MontanaAmino Acid Disorders Argininosuccinic aciduria (ASA)State preferred name:argininosuccinic acidemia Citrullinemia, type I (CIT)State preferred name:citrullinemia Citrullinemia, type II (CIT II)State preferred name:citrullinemia Classic phenylketonuria (PKU)State preferred name:phenylketonuria Homocystinuria (HCY) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)State preferred name:congenital hypothyroidismFatty Acid OxidationDisorders Carnitine uptake defect (CUD) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)State preferred name:long-chain 3-OH acyl-CoA dehydrogenase deficiency Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders S, Beta-thalassemia (Hb S/Th)State preferred name:Hb S/Beta-thalassemia S, C disease (Hb S/C)State preferred name:Hb SC disease Sickle cell anemia (Hb SS)State preferred name:Hb SS diseaseOrganic Acid Conditions 3-Hydroxy-3-methylglutaric aciduria (HMG)State preferred name:3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD)State preferred name:infant multiple carboxylase deficiency Isovaleric acidemia (IVA) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Cystic fibrosis (CF) Hearing loss (HEAR)

washingtonino AcidDisorders Argininosuccinic aciduria (ASA) Citrullinemia, type I (CIT) Classic phenylketonuria (PKU)State preferred name:phenylketonuria Homocystinuria (HCY) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders Carnitine uptake defect (CUD) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb) S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic AcidConditions 3-Hydroxy-3-methylglutaric aciduria (HMG) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD)State preferred name:multiple carboxylase deficiency Isovaleric acidemia (IVA) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT)State preferred name:galactosemia Cystic fibrosis (CF) Severe combined immunodeficiency (SCID)

IdahoAmino Acid Disorders Argininemia (ARG) Argininosuccinic aciduria (ASA) Benign hyperphenylalaninemia (H-PHE) Citrullinemia, type I (CIT) Citrullinemia, type II (CIT II) Classic phenylketonuria (PKU)State preferred name:phenylketonuria Homocystinuria (HCY) Hypermethioninemia (MET) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I) Tyrosinemia, type II (TYR II)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase I deficiency (CPT-IA) Carnitine palmitoyltransferase type II deficiency (CPT-II) Carnitine uptake defect (CUD) Glutaric acidemia, type II (GA-2) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Short-chain acyl-CoA dehydrogenase deficiency (SCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb) S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 2-Methyl-3-hydroxybutyric acidemia (2M3HBA) 2-Methylbutyrylglycinuria (2MBG) 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) 3-Methylglutaconic aciduria (3MGA) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isobutyrylglycinuria (IBG) Isovaleric acidemia (IVA) Malonic acidemia (MAL) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Methylmalonic acidemia with homocystinuria (Cbl C, D, F) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT)State preferred name:galactosemia Cystic fibrosis (CF) Hearing loss (HEAR)

OregonAmino Acid Disorders Argininemia (ARG) Argininosuccinic aciduria (ASA) Citrullinemia, type I (CIT) Citrullinemia, type II (CIT II) Classic phenylketonuria (PKU)State preferred name:phenylketonuria Homocystinuria (HCY) Hypermethioninemia (MET) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I) Tyrosinemia, type II (TYR II)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase I deficiency (CPT-IA) Carnitine palmitoyltransferase type II deficiency (CPT-II) Carnitine uptake defect (CUD) Glutaric acidemia, type II (GA-2) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Short-chain acyl-CoA dehydrogenase deficiency (SCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb) S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 2-Methyl-3-hydroxybutyric acidemia (2M3HBA) 2-Methylbutyrylglycinuria (2MBG) 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) 3-Methylglutaconic aciduria (3MGA) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isobutyrylglycinuria (IBG) Isovaleric acidemia (IVA) Malonic acidemia (MAL) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Methylmalonic acidemia with homocystinuria (Cbl C, D, F) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT)State preferred name:galactosemia Cystic fibrosis (CF) Severe combined immunodeficiency (SCID)

CaliforniaAmino Acid Disorders Argininemia (ARG) Argininosuccinic aciduria (ASA) Benign hyperphenylalaninemia (H-PHE) Biopterin defect in cofactor biosynthesis (BIOPT-BS) Biopterin defect in cofactor regeneration (BIOPT-REG) Citrullinemia, type I (CIT) Citrullinemia, type II (CIT II) Classic phenylketonuria (PKU) Homocystinuria (HCY) Hypermethioninemia (MET) Hyperornithine with gyrate deficiency (Hyper ORN) Maple syrup urine disease (MSUD) Ornithine transcarbamylase deficiency (OTC) Prolinemia (PRO) Tyrosinemia, type I (TYR I) Tyrosinemia, type II (TYR II) Tyrosinemia, type III (TYR III)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase I deficiency (CPT-IA) Carnitine palmitoyltransferase type II deficiency (CPT-II) Carnitine uptake defect (CUD) Glutaric acidemia, type II (GA-2) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Medium/short-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD) Short-chain acyl-CoA dehydrogenase deficiency (SCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb) S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 2-Methyl-3-hydroxybutyric acidemia (2M3HBA) 2-Methylbutyrylglycinuria (2MBG) 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) 3-Methylglutaconic aciduria (3MGA) Beta-ketothiolase deficiency (BKT) Ethylmalonic encephalopathy (EME) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isobutyrylglycinuria (IBG) Isovaleric acidemia (IVA) Malonic acidemia (MAL) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Methylmalonic acidemia with homocystinuria (Cbl C, D, F) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Cystic fibrosis (CF) Formiminoglutamic acidemia (FIGLU) Hearing loss (HEAR) Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH) Severe combined immunodeficiency (SCID)NevadaAmino Acid Disorders Argininemia (ARG) Argininosuccinic aciduria (ASA) Benign hyperphenylalaninemia (H-PHE) Citrullinemia, type I (CIT) Citrullinemia, type II (CIT II) Classic phenylketonuria (PKU)State preferred name:phenylketonuria Homocystinuria (HCY) Hypermethioninemia (MET) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I) Tyrosinemia, type II (TYR II)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase I deficiency (CPT-IA) Carnitine palmitoyltransferase type II deficiency (CPT-II) Carnitine uptake defect (CUD) Glutaric acidemia, type II (GA-2) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Short-chain acyl-CoA dehydrogenase deficiency (SCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb) S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 2-Methyl-3-hydroxybutyric acidemia (2M3HBA) 2-Methylbutyrylglycinuria (2MBG) 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) 3-Methylglutaconic aciduria (3MGA) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isobutyrylglycinuria (IBG) Isovaleric acidemia (IVA) Malonic acidemia (MAL) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Methylmalonic acidemia with homocystinuria (Cbl C, D, F) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT)State preferred name:galactosemia Cystic fibrosis (CF)

AlaskaAmino Acid Disorders Argininemia (ARG) Argininosuccinic aciduria (ASA) Benign hyperphenylalaninemia (H-PHE) Citrullinemia, type I (CIT) Citrullinemia, type II (CIT II) Classic phenylketonuria (PKU)State preferred name:phenylketonuria Homocystinuria (HCY) Hypermethioninemia (MET) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I) Tyrosinemia, type II (TYR II)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase I deficiency (CPT-IA)State preferred name:Arctic Variant CPT-1A Carnitine palmitoyltransferase type II deficiency (CPT-II) Carnitine uptake defect (CUD) Glutaric acidemia, type II (GA-2) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Short-chain acyl-CoA dehydrogenase deficiency (SCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb) S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 2-Methyl-3-hydroxybutyric acidemia (2M3HBA) 2-Methylbutyrylglycinuria (2MBG) 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) 3-Methylglutaconic aciduria (3MGA) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isobutyrylglycinuria (IBG) Isovaleric acidemia (IVA) Malonic acidemia (MAL) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Methylmalonic acidemia with homocystinuria (Cbl C, D, F) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT)State preferred name:galactosemia Cystic fibrosis (CF) Hearing loss (HEAR)

UtahAmino Acid Disorders Argininemia (ARG) Argininosuccinic aciduria (ASA)State preferred name:argininosuccinic acidemia Benign hyperphenylalaninemia (H-PHE) Citrullinemia, type I (CIT) Citrullinemia, type II (CIT II) Classic phenylketonuria (PKU) Homocystinuria (HCY) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I) Tyrosinemia, type II (TYR II) Tyrosinemia, type III (TYR III)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase I deficiency (CPT-IA) Carnitine palmitoyltransferase type II deficiency (CPT-II) Carnitine uptake defect (CUD) Glutaric acidemia, type II (GA-2) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)State preferred name:long chain hydroxy acyl-CoA dehydrogenase deficiency Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Short-chain acyl-CoA dehydrogenase deficiency (SCAD) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb) S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 2-Methyl-3-hydroxybutyric acidemia (2M3HBA) 2-Methylbutyrylglycinuria (2MBG) 3-Hydroxy-3-methylglutaric aciduria (HMG)State preferred name:hydroxymethylglutaric aciduria Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isobutyrylglycinuria (IBG) Isovaleric acidemia (IVA) Malonic acidemia (MAL) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Methylmalonic acidemia with homocystinuria (Cbl C, D, F) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Cystic fibrosis (CF) Hearing loss (HEAR) Severe combined immunodeficiency (SCID)

Arizona Amino Acid Disorders Argininosuccinic aciduria (ASA) Benign hyperphenylalaninemia (H-PHE) Citrullinemia, type I (CIT)State preferred name:citrullinemia Classic phenylketonuria (PKU)State preferred name:phenylketonuria Homocystinuria (HCY) Hypermethioninemia (MET) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)State preferred name:congenital hypothyroidismFatty Acid OxidationDisorders Carnitine palmitoyltransferase type II deficiency (CPT-II) Carnitine uptake defect (CUD) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb) S, Beta-thalassemia (Hb S/Th)State preferred name:sickle beta thalassemia S, C disease (Hb S/C)State preferred name:sickle cell hemoglobin C disease Sickle cell anemia (Hb SS)Organic Acid Conditions 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isovaleric acidemia (IVA) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT)State preferred name:galactosemia Cystic fibrosis (CF) Hearing loss (HEAR)

HawaiiAmino Acid Disorders Argininemia (ARG) Argininosuccinic aciduria (ASA) Benign hyperphenylalaninemia (H-PHE) Citrullinemia, type I (CIT) Citrullinemia, type II (CIT II) Classic phenylketonuria (PKU)State preferred name:phenylketonuria Homocystinuria (HCY) Hypermethioninemia (MET) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I) Tyrosinemia, type II (TYR II)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase I deficiency (CPT-IA) Carnitine palmitoyltransferase type II deficiency (CPT-II) Carnitine uptake defect (CUD) Glutaric acidemia, type II (GA-2) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Short-chain acyl-CoA dehydrogenase deficiency (SCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb) S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 2-Methyl-3-hydroxybutyric acidemia (2M3HBA) 2-Methylbutyrylglycinuria (2MBG) 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) 3-Methylglutaconic aciduria (3MGA) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isobutyrylglycinuria (IBG) Isovaleric acidemia (IVA) Malonic acidemia (MAL) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Methylmalonic acidemia with homocystinuria (Cbl C, D, F) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT)State preferred name:galactosemia Cystic fibrosis (CF) Hearing loss (HEAR) T-cell related lymphocyte deficiencies

WyomingAmino Acid Disorders Argininosuccinic aciduria (ASA)State preferred name:argininosuccinic acidemia Citrullinemia, type I (CIT)State preferred name:citrullinemia Citrullinemia, type II (CIT II) Classic phenylketonuria (PKU)State preferred name:phenylketonuria Homocystinuria (HCY) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)State preferred name:congenital hypothyroidismFatty Acid OxidationDisorders Carnitine uptake defect (CUD) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders S, Beta-thalassemia (Hb S/Th)State preferred name:Beta-thalassemia S, C disease (Hb S/C)State preferred name:hemoglobin S/C disease Sickle cell anemia (Hb SS)Organic Acid Conditions 3-Hydroxy-3-methylglutaric aciduria (HMG)State preferred name:3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD)State preferred name:infant multiple carboxylase deficiency Isovaleric acidemia (IVA) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B)State preferred name:methylmalonic acidemia Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT)State preferred name:galactosemia Cystic fibrosis (CF) Hearing loss (HEAR) Severe combined immunodeficiency (SCID)

ColoradoAmino Acid Disorders Argininemia (ARG)State preferred name:arginase deficiency Argininosuccinic aciduria (ASA)State preferred name:argininosuccinic acidemia Citrullinemia, type I (CIT)State preferred name:citrullinemia Classic phenylketonuria (PKU)State preferred name:phenylketonuria Homocystinuria (HCY) Hypermethioninemia (MET) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I) Tyrosinemia, type II (TYR II) Tyrosinemia, type III (TYR III)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)State preferred name:congenital hypothyroidismFatty Acid OxidationDisorders Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase I deficiency (CPT-IA)State preferred name:carnitine palmitoyltransferase deficiency- type IA Carnitine palmitoyltransferase type II deficiency (CPT-II)State preferred name:carnitine palmyitoyl transferase II deficiency Carnitine uptake defect (CUD) Glutaric acidemia, type II (GA-2) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Short-chain acyl-CoA dehydrogenase deficiency (SCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders S, Beta-thalassemia (Hb S/Th)State preferred name:Beta-thalassemia S, C disease (Hb S/C)State preferred name:hemoglobin S/C disease Sickle cell anemia (Hb SS)Organic Acid Conditions 3-Hydroxy-3-methylglutaric aciduria (HMG)State preferred name:3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) 3-Methylglutaconic aciduria (3MGA) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD)State preferred name:infant multiple carboxylase deficiency Isovaleric acidemia (IVA) Malonic acidemia (MAL) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B)State preferred name:methylmalonic acidemia Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT)State preferred name:galactosemia Cystic fibrosis (CF) Hearing loss (HEAR) Severe combined immunodeficiency (SCID)

New mexicoAmino Acid Disorders Argininemia (ARG) Argininosuccinic aciduria (ASA) Benign hyperphenylalaninemia (H-PHE) Citrullinemia, type I (CIT) Citrullinemia, type II (CIT II) Classic phenylketonuria (PKU)State preferred name:phenylketonuria Homocystinuria (HCY) Hypermethioninemia (MET) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I) Tyrosinemia, type II (TYR II)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase I deficiency (CPT-IA)State preferred name:carnitine palmitoyltransferase deficiency- type IA Carnitine palmitoyltransferase type II deficiency (CPT-II) Carnitine uptake defect (CUD) Glutaric acidemia, type II (GA-2) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Short-chain acyl-CoA dehydrogenase deficiency (SCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb) S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 2-Methyl-3-hydroxybutyric acidemia (2M3HBA) 2-Methylbutyrylglycinuria (2MBG) 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) 3-Methylglutaconic aciduria (3MGA) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isobutyrylglycinuria (IBG) Isovaleric acidemia (IVA) Malonic acidemia (MAL) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Methylmalonic acidemia with homocystinuria (Cbl C, D, F) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT)State preferred name:galactosemia Cystic fibrosis (CF) Hearing loss (HEAR)

North DakotaAmino Acid Disorders Argininemia (ARG) Argininosuccinic aciduria (ASA) Benign hyperphenylalaninemia (H-PHE) Biopterin defect in cofactor biosynthesis (BIOPT-BS) Biopterin defect in cofactor regeneration (BIOPT-REG) Citrullinemia, type I (CIT) Citrullinemia, type II (CIT II) Classic phenylketonuria (PKU) Homocystinuria (HCY) Hypermethioninemia (MET) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I) Tyrosinemia, type II (TYR II) Tyrosinemia, type III (TYR III)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase I deficiency (CPT-IA) Carnitine palmitoyltransferase type II deficiency (CPT-II) Carnitine uptake defect (CUD) Glutaric acidemia, type II (GA-2) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Medium-chain ketoacyl-CoA thiolase deficiency (MCAT) Medium/short-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb) S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 2-Methyl-3-hydroxybutyric acidemia (2M3HBA) 2-Methylbutyrylglycinuria (2MBG) 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isovaleric acidemia (IVA) Malonic acidemia (MAL) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Methylmalonic acidemia with homocystinuria (Cbl C, D, F) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Cystic fibrosis (CF) Galactoepimerase deficiency (GALE) Hearing loss (HEAR)

South DakotaAmino Acid Disorders Argininemia (ARG) Argininosuccinic aciduria (ASA) Benign hyperphenylalaninemia (H-PHE) Biopterin defect in cofactor biosynthesis (BIOPT-BS) Biopterin defect in cofactor regeneration (BIOPT-REG) Citrullinemia, type I (CIT) Citrullinemia, type II (CIT II) Classic phenylketonuria (PKU)State preferred name:phenylketonuria Homocystinuria (HCY) Hypermethioninemia (MET) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I) Tyrosinemia, type II (TYR II) Tyrosinemia, type III (TYR III)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase I deficiency (CPT-IA) Carnitine palmitoyltransferase type II deficiency (CPT-II) Carnitine uptake defect (CUD) Glutaric acidemia, type II (GA-2) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Medium-chain ketoacyl-CoA thiolase deficiency (MCAT) Medium/short-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb) S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 2-Methyl-3-hydroxybutyric acidemia (2M3HBA) 2-Methylbutyrylglycinuria (2MBG)State preferred name:2-methylbutyryl-CoA dehydrogenase deficiency 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) 3-Methylglutaconic aciduria (3MGA) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD)State preferred name:holocarboxylase deficiency Isovaleric acidemia (IVA) Malonic acidemia (MAL) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Methylmalonic acidemia with homocystinuria (Cbl C, D, F) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Cystic fibrosis (CF) Galactoepimerase deficiency (GALE)

NebraskaAmino Acid Disorders Argininosuccinic aciduria (ASA) Citrullinemia, type I (CIT) Classic phenylketonuria (PKU) Homocystinuria (HCY) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders Carnitine uptake defect (CUD) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb) S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isovaleric acidemia (IVA) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Cystic fibrosis (CF) Hearing loss (HEAR)

KansasAmino Acid Disorders Argininosuccinic aciduria (ASA) Citrullinemia, type I (CIT)State preferred name:citrullinemia Classic phenylketonuria (PKU)State preferred name:phenylketonuria Homocystinuria (HCY) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)State preferred name:congenital hypothyroidismFatty Acid OxidationDisorders Carnitine uptake defect (CUD) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)State preferred name:long chain hydroxy acyl-CoA dehydrogenase deficiency Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders S, Beta-thalassemia (Hb S/Th)State preferred name:Hb S/Beta-thalassemia S, C disease (Hb S/C)State preferred name:hemoglobin S/C disease Sickle cell anemia (Hb SS)Organic Acid Conditions 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD)State preferred name:infant multiple carboxylase deficiency Isovaleric acidemia (IVA) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Cystic fibrosis (CF) Hearing loss (HEAR)

OklahomaAmino AcidDisorders Argininemia (ARG) Argininosuccinic aciduria (ASA) Benign hyperphenylalaninemia (H-PHE) Biopterin defect in cofactor biosynthesis (BIOPT-BS) Biopterin defect in cofactor regeneration (BIOPT-REG) Citrullinemia, type I (CIT) Citrullinemia, type II (CIT II) Classic phenylketonuria (PKU) Homocystinuria (HCY) Hypermethioninemia (MET) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I) Tyrosinemia, type II (TYR II) Tyrosinemia, type III (TYR III)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase I deficiency (CPT-IA) Carnitine palmitoyltransferase type II deficiency (CPT-II) Carnitine uptake defect (CUD) Glutaric acidemia, type II (GA-2) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Medium-chain ketoacyl-CoA thiolase deficiency (MCAT)State preferred name:MCKAT Short-chain acyl-CoA dehydrogenase deficiency (SCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C)State preferred name:Hb SC disease Sickle cell anemia (Hb SS)Organic AcidConditions 2-Methyl-3-hydroxybutyric acidemia (2M3HBA) 2-Methylbutyrylglycinuria (2MBG) 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) 3-Methylglutaconic aciduria (3MGA) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isobutyrylglycinuria (IBG) Isovaleric acidemia (IVA) Malonic acidemia (MAL) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Methylmalonic acidemia with homocystinuria (Cbl C, D, F) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Cystic fibrosis (CF) Galactoepimerase deficiency (GALE)State preferred name:GALE deficiency Galactokinase deficiency (GALK)State preferred name:GALK deficiency Hearing loss (HEAR)

TexasAmino Acid Disorders Argininosuccinic aciduria (ASA)State preferred name:argininosuccinic acidemia Citrullinemia, type I (CIT) Classic phenylketonuria (PKU)State preferred name:phenylketonuria Homocystinuria (HCY) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)State preferred name:congenital hypothyroidismFatty Acid OxidationDisorders Carnitine palmitoyltransferase I deficiency (CPT-IA) Carnitine uptake defect (CUD) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)State preferred name:long chain hydroxy acyl-CoA dehydrogenase deficiency Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb)State preferred name:Various other hemoglobinopathies S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C)State preferred name:sickle cell hemoglobin C disease Sickle cell anemia (Hb SS)Organic Acid Conditions 3-Hydroxy-3-methylglutaric aciduria (HMG)State preferred name:hydroxymethylglutaric aciduria 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD)State preferred name:multiple carboxylase deficiency Isovaleric acidemia (IVA) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT)State preferred name:MMA Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT)State preferred name:galactosemia Cystic fibrosis (CF) Severe combined immunodeficiency (SCID)

MinnesotaAmino Acid Disorders Argininemia (ARG) Argininosuccinic aciduria (ASA) Benign hyperphenylalaninemia (H-PHE) Biopterin defect in cofactor biosynthesis (BIOPT-BS) Biopterin defect in cofactor regeneration (BIOPT-REG) Citrullinemia, type I (CIT) Citrullinemia, type II (CIT II) Classic phenylketonuria (PKU) Homocystinuria (HCY) Hypermethioninemia (MET) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I) Tyrosinemia, type II (TYR II) Tyrosinemia, type III (TYR III)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders 2,4 Dienoyl-CoA reductase deficiency (DE RED) Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase I deficiency (CPT-IA) Carnitine palmitoyltransferase type II deficiency (CPT-II) Carnitine uptake defect (CUD) Glutaric acidemia, type II (GA-2) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Medium-chain ketoacyl-CoA thiolase deficiency (MCAT) Medium/short-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD) Short-chain acyl-CoA dehydrogenase deficiency (SCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb) S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 2-Methyl-3-hydroxybutyric acidemia (2M3HBA) 2-Methylbutyrylglycinuria (2MBG) 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) 3-Methylglutaconic aciduria (3MGA) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isobutyrylglycinuria (IBG) Isovaleric acidemia (IVA) Malonic acidemia (MAL) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Methylmalonic acidemia with homocystinuria (Cbl C, D, F) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Critical congenital heart disease (CCHD)State preferred name:Critical congenital heart defect Cystic fibrosis (CF) Galactoepimerase deficiency (GALE) Galactokinase deficiency (GALK) Hearing loss (HEAR) Severe combined immunodeficiency (SCID)

IowaAmino Acid Disorders Argininemia (ARG) Argininosuccinic aciduria (ASA) Citrullinemia, type I (CIT) Citrullinemia, type II (CIT II) Classic phenylketonuria (PKU) Homocystinuria (HCY) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I) Tyrosinemia, type II (TYR II) Tyrosinemia, type III (TYR III)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase I deficiency (CPT-IA) Carnitine palmitoyltransferase type II deficiency (CPT-II) Carnitine uptake defect (CUD) Glutaric acidemia, type II (GA-2) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Short-chain acyl-CoA dehydrogenase deficiency (SCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb) S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 2-Methyl-3-hydroxybutyric acidemia (2M3HBA) 2-Methylbutyrylglycinuria (2MBG) 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) 3-Methylglutaconic aciduria (3MGA) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isobutyrylglycinuria (IBG) Isovaleric acidemia (IVA) Malonic acidemia (MAL) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Methylmalonic acidemia with homocystinuria (Cbl C, D, F) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Cystic fibrosis (CF) Hearing loss (HEAR)

MissouriAmino Acid Disorders Argininemia (ARG) Argininosuccinic aciduria (ASA) Benign hyperphenylalaninemia (H-PHE)State preferred name:hyperphenylalaninemia Biopterin defect in cofactor biosynthesis (BIOPT-BS) Biopterin defect in cofactor regeneration (BIOPT-REG) Citrullinemia, type I (CIT) Citrullinemia, type II (CIT II) Classic phenylketonuria (PKU)State preferred name:phenylketonuria Homocystinuria (HCY)State preferred name:cystathionine beta-synthase deficiency Hypermethioninemia (MET) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I) Tyrosinemia, type II (TYR II) Tyrosinemia, type III (TYR III)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders 2,4 Dienoyl-CoA reductase deficiency (DE RED) Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase I deficiency (CPT-IA) Carnitine palmitoyltransferase type II deficiency (CPT-II) Carnitine uptake defect (CUD) Glutaric acidemia, type II (GA-2) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Medium-chain ketoacyl-CoA thiolase deficiency (MCAT)State preferred name:MCKAT Medium/short-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD) Short-chain acyl-CoA dehydrogenase deficiency (SCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb)State preferred name:Various other hemoglobinopathies S, Beta-thalassemia (Hb S/Th)State preferred name:sickle beta thalassemia S, C disease (Hb S/C)State preferred name:sickle cell hemoglobin C disease Sickle cell anemia (Hb SS)State preferred name:sickle cell diseaseLysosomal Storage Disorders Fabry disease (FABRY) Gaucher disease (GBA) Krabbe disease Mucopolysaccharidosis Type I (MPS I)State preferred name:Hurler syndrome Pompe disease (POMPE)Organic Acid Conditions 2-Methyl-3-hydroxybutyric acidemia (2M3HBA) 2-Methylbutyrylglycinuria (2MBG) 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) 3-Methylglutaconic aciduria (3MGA) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isobutyrylglycinuria (IBG) Isovaleric acidemia (IVA) Malonic acidemia (MAL) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Methylmalonic acidemia with homocystinuria (Cbl C, D, F) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Critical congenital heart disease (CCHD) Cystic fibrosis (CF) Hearing loss (HEAR)Amino Acid Disorders Argininemia (ARG) Argininosuccinic aciduria (ASA) Benign hyperphenylalaninemia (H-PHE)State preferred name:hyperphenylalaninemia Biopterin defect in cofactor biosynthesis (BIOPT-BS) Biopterin defect in cofactor regeneration (BIOPT-REG) Citrullinemia, type I (CIT) Citrullinemia, type II (CIT II) Classic phenylketonuria (PKU)State preferred name:phenylketonuria Homocystinuria (HCY)State preferred name:cystathionine beta-synthase deficiency Hypermethioninemia (MET) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I) Tyrosinemia, type II (TYR II) Tyrosinemia, type III (TYR III)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders 2,4 Dienoyl-CoA reductase deficiency (DE RED) Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase I deficiency (CPT-IA) Carnitine palmitoyltransferase type II deficiency (CPT-II) Carnitine uptake defect (CUD) Glutaric acidemia, type II (GA-2) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Medium-chain ketoacyl-CoA thiolase deficiency (MCAT)State preferred name:MCKAT Medium/short-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD) Short-chain acyl-CoA dehydrogenase deficiency (SCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb)State preferred name:Various other hemoglobinopathies S, Beta-thalassemia (Hb S/Th)State preferred name:sickle beta thalassemia S, C disease (Hb S/C)State preferred name:sickle cell hemoglobin C disease Sickle cell anemia (Hb SS)State preferred name:sickle cell diseaseLysosomal Storage Disorders Fabry disease (FABRY) Gaucher disease (GBA) Krabbe disease Mucopolysaccharidosis Type I (MPS I)State preferred name:Hurler syndrome Pompe disease (POMPE)Organic Acid Conditions 2-Methyl-3-hydroxybutyric acidemia (2M3HBA) 2-Methylbutyrylglycinuria (2MBG) 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) 3-Methylglutaconic aciduria (3MGA) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isobutyrylglycinuria (IBG) Isovaleric acidemia (IVA) Malonic acidemia (MAL) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Methylmalonic acidemia with homocystinuria (Cbl C, D, F) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Critical congenital heart disease (CCHD) Cystic fibrosis (CF) Hearing loss (HEAR)

ArkansasAmino AcidDisorders Argininosuccinic aciduria (ASA) Citrullinemia, type I (CIT) Classic phenylketonuria (PKU) Homocystinuria (HCY) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders Carnitine uptake defect (CUD) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb)State preferred name:Various other hemoglobinopathies S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic AcidConditions 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD)State preferred name:multiple carboxylase deficiency Isovaleric acidemia (IVA) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Critical congenital heart disease (CCHD)State preferred name:Critical congenital heart defect Cystic fibrosis (CF) Hearing loss (HEAR)

LouisianaAmino Acid Disorders Argininosuccinic aciduria (ASA) Citrullinemia, type I (CIT) Citrullinemia, type II (CIT II) Classic phenylketonuria (PKU) Homocystinuria (HCY) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase I deficiency (CPT-IA) Carnitine palmitoyltransferase type II deficiency (CPT-II) Carnitine uptake defect (CUD) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isovaleric acidemia (IVA) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Cystic fibrosis (CF) Hearing loss (HEAR)

WisconsinAmino Acid Disorders Argininosuccinic aciduria (ASA)State preferred name:argininosuccinic acidemia Benign hyperphenylalaninemia (H-PHE) Biopterin defect in cofactor biosynthesis (BIOPT-BS) Biopterin defect in cofactor regeneration (BIOPT-REG) Citrullinemia, type I (CIT) Citrullinemia, type II (CIT II) Classic phenylketonuria (PKU) Homocystinuria (HCY) Hypermethioninemia (MET) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I) Tyrosinemia, type II (TYR II) Tyrosinemia, type III (TYR III)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders 2,4 Dienoyl-CoA reductase deficiency (DE RED) Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase type II deficiency (CPT-II) Carnitine uptake defect (CUD) Glutaric acidemia, type II (GA-2) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Medium-chain ketoacyl-CoA thiolase deficiency (MCAT) Medium/short-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb) S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 2-Methyl-3-hydroxybutyric acidemia (2M3HBA) 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) 3-Methylglutaconic aciduria (3MGA) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isovaleric acidemia (IVA) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Methylmalonic acidemia with homocystinuria (Cbl C, D, F) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Cystic fibrosis (CF) Hearing loss (HEAR) Severe combined immunodeficiency (SCID)Illinois Argininemia (ARG) Argininosuccinic aciduria (ASA) Benign hyperphenylalaninemia (H-PHE) Biopterin defect in cofactor biosynthesis (BIOPT-BS) Biopterin defect in cofactor regeneration (BIOPT-REG) Carbamoyl phosphate synthetase I deficiency (CPS) Citrullinemia, type I (CIT) Citrullinemia, type II (CIT II) Classic phenylketonuria (PKU) Homocystinuria (HCY) Hypermethioninemia (MET) Maple syrup urine disease (MSUD) Nonketotic hyperglycinemia (NKH) Tyrosinemia, type I (TYR I) Tyrosinemia, type II (TYR II) Tyrosinemia, type III (TYR III)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders 2,4 Dienoyl-CoA reductase deficiency (DE RED) Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase I deficiency (CPT-IA) Carnitine palmitoyltransferase type II deficiency (CPT-II) Carnitine uptake defect (CUD) Glutaric acidemia, type II (GA-2) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Medium-chain ketoacyl-CoA thiolase deficiency (MCAT) Medium/short-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD) Short-chain acyl-CoA dehydrogenase deficiency (SCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb) S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 2-Methyl-3-hydroxybutyric acidemia (2M3HBA) 2-Methylbutyrylglycinuria (2MBG) 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) 3-Methylglutaconic aciduria (3MGA) Beta-ketothiolase deficiency (BKT) Ethylmalonic encephalopathy (EME) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isobutyrylglycinuria (IBG) Isovaleric acidemia (IVA) Malonic acidemia (MAL) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Methylmalonic acidemia with homocystinuria (Cbl C, D, F) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Cystic fibrosis (CF) Hearing loss (HEAR) Pyroglutamic acidemia (5-OXO)

MississippiAmino Acid Disorders Argininemia (ARG) Argininosuccinic aciduria (ASA) Benign hyperphenylalaninemia (H-PHE) Biopterin defect in cofactor biosynthesis (BIOPT-BS) Biopterin defect in cofactor regeneration (BIOPT-REG) Carbamoyl phosphate synthetase I deficiency (CPS) Citrullinemia, type I (CIT) Citrullinemia, type II (CIT II) Classic phenylketonuria (PKU) Homocystinuria (HCY) Hypermethioninemia (MET) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I) Tyrosinemia, type II (TYR II) Tyrosinemia, type III (TYR III)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders 2,4 Dienoyl-CoA reductase deficiency (DE RED) Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase I deficiency (CPT-IA) Carnitine palmitoyltransferase type II deficiency (CPT-II) Carnitine uptake defect (CUD) Glutaric acidemia, type II (GA-2) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Medium-chain ketoacyl-CoA thiolase deficiency (MCAT) Medium/short-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD) Short-chain acyl-CoA dehydrogenase deficiency (SCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb) S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 2-Methyl-3-hydroxybutyric acidemia (2M3HBA) 2-Methylbutyrylglycinuria (2MBG) 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) 3-Methylglutaconic aciduria (3MGA) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isobutyrylglycinuria (IBG) Isovaleric acidemia (IVA) Malonic acidemia (MAL) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Methylmalonic acidemia with homocystinuria (Cbl C, D, F) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Cystic fibrosis (CF) Galactoepimerase deficiency (GALE) Galactokinase deficiency (GALK) Hearing loss (HEAR) Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH) Pyroglutamic acidemia (5-OXO) Severe combined immunodeficiency (SCID) T-cell related lymphocyte deficiencies

MichiganAmino Acid Disorders Argininemia (ARG) Argininosuccinic aciduria (ASA) Benign hyperphenylalaninemia (H-PHE) Biopterin defect in cofactor biosynthesis (BIOPT-BS) Biopterin defect in cofactor regeneration (BIOPT-REG) Citrullinemia, type I (CIT) Citrullinemia, type II (CIT II) Classic phenylketonuria (PKU) Homocystinuria (HCY) Hypermethioninemia (MET) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I) Tyrosinemia, type II (TYR II) Tyrosinemia, type III (TYR III)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders 2,4 Dienoyl-CoA reductase deficiency (DE RED) Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase I deficiency (CPT-IA) Carnitine palmitoyltransferase type II deficiency (CPT-II) Carnitine uptake defect (CUD) Glutaric acidemia, type II (GA-2) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Medium-chain ketoacyl-CoA thiolase deficiency (MCAT) Medium/short-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD) Short-chain acyl-CoA dehydrogenase deficiency (SCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb) S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 2-Methyl-3-hydroxybutyric acidemia (2M3HBA) 2-Methylbutyrylglycinuria (2MBG) 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) 3-Methylglutaconic aciduria (3MGA) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isobutyrylglycinuria (IBG) Isovaleric acidemia (IVA) Malonic acidemia (MAL) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Methylmalonic acidemia with homocystinuria (Cbl C, D, F) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Critical congenital heart disease (CCHD) Cystic fibrosis (CF) Hearing loss (HEAR) Severe combined immunodeficiency (SCID) T-cell related lymphocyte deficiencies

IndianaAmino Acid Disorders Argininemia (ARG)State preferred name:arginase deficiency Argininosuccinic aciduria (ASA) Benign hyperphenylalaninemia (H-PHE)State preferred name:hyperphenylalaninemia Biopterin defect in cofactor biosynthesis (BIOPT-BS)State preferred name:biopterin cofactor defects Biopterin defect in cofactor regeneration (BIOPT-REG)State preferred name:biopterin cofactor defects Citrullinemia, type I (CIT) Citrullinemia, type II (CIT II)State preferred name:citrin deficiency Classic phenylketonuria (PKU)State preferred name:phenylketonuria Homocystinuria (HCY) Hypermethioninemia (MET) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I) Tyrosinemia, type II (TYR II) Tyrosinemia, type III (TYR III)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders 2,4 Dienoyl-CoA reductase deficiency (DE RED) Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase I deficiency (CPT-IA) Carnitine palmitoyltransferase type II deficiency (CPT-II) Carnitine uptake defect (CUD) Glutaric acidemia, type II (GA-2) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Medium/short-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD) Short-chain acyl-CoA dehydrogenase deficiency (SCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 2-Methylbutyrylglycinuria (2MBG) 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) 3-Methylglutaconic aciduria (3MGA) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD)State preferred name:multiple co-A carboxylase deficiency Isobutyrylglycinuria (IBG) Isovaleric acidemia (IVA) Malonic acidemia (MAL) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Methylmalonic acidemia with homocystinuria (Cbl C, D, F) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT)State preferred name:galactosemia Critical congenital heart disease (CCHD) Cystic fibrosis (CF) Hearing loss (HEAR)

KentuckyAmino Acid Disorders Argininemia (ARG) Argininosuccinic aciduria (ASA) Benign hyperphenylalaninemia (H-PHE) Biopterin defect in cofactor biosynthesis (BIOPT-BS) Biopterin defect in cofactor regeneration (BIOPT-REG) Citrullinemia, type I (CIT) Citrullinemia, type II (CIT II) Classic phenylketonuria (PKU)State preferred name:phenylketonuria Homocystinuria (HCY) Hypermethioninemia (MET) Maple syrup urine disease (MSUD) Nonketotic hyperglycinemia (NKH) Tyrosinemia, type I (TYR I) Tyrosinemia, type II (TYR II) Tyrosinemia, type III (TYR III)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase I deficiency (CPT-IA) Carnitine palmitoyltransferase type II deficiency (CPT-II) Carnitine uptake defect (CUD) Glutaric acidemia, type II (GA-2) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)State preferred name:long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Short-chain acyl-CoA dehydrogenase deficiency (SCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb)State preferred name:Various other hemoglobinopathies S, Beta-thalassemia (Hb S/Th)State preferred name:sickle cell-beta thalassemia S, C disease (Hb S/C)State preferred name:sickle cell hemoglobin C disease Sickle cell anemia (Hb SS)State preferred name:sickle cell diseaseOrganic Acid Conditions 2-Methyl-3-hydroxybutyric acidemia (2M3HBA) 2-Methylbutyrylglycinuria (2MBG) 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) 3-Methylglutaconic aciduria (3MGA) Beta-ketothiolase deficiency (BKT) Ethylmalonic encephalopathy (EME) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD)State preferred name:multiple carboxylase deficiency Isobutyrylglycinuria (IBG) Isovaleric acidemia (IVA) Malonic acidemia (MAL) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B)State preferred name:Cobalamin A,B Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT)State preferred name:methylmalonic acidemia (mutase deficiency) Methylmalonic acidemia with homocystinuria (Cbl C, D, F) Propionic acidemia (PROP)State preferred name:PAOther Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Critical congenital heart disease (CCHD) Cystic fibrosis (CF) Hearing loss (HEAR)

TennesseeAmino Acid Disorders Argininemia (ARG) Argininosuccinic aciduria (ASA) Benign hyperphenylalaninemia (H-PHE) Biopterin defect in cofactor biosynthesis (BIOPT-BS) Biopterin defect in cofactor regeneration (BIOPT-REG) Carbamoyl phosphate synthetase I deficiency (CPS) Citrullinemia, type I (CIT) Citrullinemia, type II (CIT II) Classic phenylketonuria (PKU) Homocystinuria (HCY) Hypermethioninemia (MET) Hyperornithine with gyrate deficiency (Hyper ORN) Maple syrup urine disease (MSUD) Nonketotic hyperglycinemia (NKH) Tyrosinemia, type I (TYR I) Tyrosinemia, type II (TYR II) Tyrosinemia, type III (TYR III)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid Oxidation Disorders 2,4 Dienoyl-CoA reductase deficiency (DE RED) Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase I deficiency (CPT-IA) Carnitine palmitoyltransferase type II deficiency (CPT-II) Carnitine uptake defect (CUD) Glutaric acidemia, type II (GA-2) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Short-chain acyl-CoA dehydrogenase deficiency (SCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb) S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 2-Methyl-3-hydroxybutyric acidemia (2M3HBA) 2-Methylbutyrylglycinuria (2MBG) 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) 3-Methylglutaconic aciduria (3MGA) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isobutyrylglycinuria (IBG) Isovaleric acidemia (IVA) Malonic acidemia (MAL) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Methylmalonic acidemia with homocystinuria (Cbl C, D, F) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Critical congenital heart disease (CCHD) Cystic fibrosis (CF) Galactoepimerase deficiency (GALE) Galactokinase deficiency (GALK) Hearing loss (HEAR) Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH)

AlbamaAmino Acid Disorders Argininosuccinic aciduria (ASA) Citrullinemia, type I (CIT) Classic phenylketonuria (PKU) Homocystinuria (HCY) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders Carnitine uptake defect (CUD) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isovaleric acidemia (IVA) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Cystic fibrosis (CF) Hearing loss (HEAR)

OhioAmino Acid Disorders Argininemia (ARG) Argininosuccinic aciduria (ASA) Benign hyperphenylalaninemia (H-PHE)State preferred name:PKU variant Citrullinemia, type I (CIT) Citrullinemia, type II (CIT II) Classic phenylketonuria (PKU) Homocystinuria (HCY) Hypermethioninemia (MET) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I) Tyrosinemia, type II (TYR II) Tyrosinemia, type III (TYR III)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase type II deficiency (CPT-II) Carnitine uptake defect (CUD) Glutaric acidemia, type II (GA-2)State preferred name:multiple acyl-CoA dehydrogenase deficiency Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)State preferred name:long-chain 3-OH acyl-CoA dehydrogenase deficiency Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Short-chain acyl-CoA dehydrogenase deficiency (SCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb) S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 2-Methylbutyrylglycinuria (2MBG)State preferred name:2-methylbutyryl-CoA dehydrogenase deficiency 3-Hydroxy-3-methylglutaric aciduria (HMG)State preferred name:3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1)State preferred name:glutaric aciduria type I Holocarboxylase synthetase deficiency (MCD)State preferred name:multiple carboxylase deficiency Isobutyrylglycinuria (IBG)State preferred name:isobutyryl-CoA dehydrogenase deficiency Isovaleric acidemia (IVA) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia with homocystinuria (Cbl C, D, F) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Cystic fibrosis (CF) Hearing loss (HEAR)

West Virginia Amino Acid Disorders Argininosuccinic aciduria (ASA) Citrullinemia, type I (CIT) Classic phenylketonuria (PKU) Homocystinuria (HCY) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid Oxidation Disorders Carnitine uptake defect (CUD) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb) S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isovaleric acidemia (IVA) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Cystic fibrosis (CF) Hearing loss (HEAR) Severe combined immunodeficiency (SCID)

VirginiaAmino Acid Disorders Argininosuccinic aciduria (ASA) Citrullinemia, type I (CIT) Classic phenylketonuria (PKU) Homocystinuria (HCY) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders Carnitine uptake defect (CUD) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isovaleric acidemia (IVA) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Cystic fibrosis (CF) Hearing loss (HEAR)

North CarolinaAmino Acid Disorders Argininosuccinic aciduria (ASA) Benign hyperphenylalaninemia (H-PHE) Citrullinemia, type I (CIT) Classic phenylketonuria (PKU) Homocystinuria (HCY) Maple syrup urine disease (MSUD) Tyrosinemia, type II (TYR II) Tyrosinemia, type III (TYR III)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase type II deficiency (CPT-II) Glutaric acidemia, type II (GA-2) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Short-chain acyl-CoA dehydrogenase deficiency (SCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb) S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 2-Methylbutyrylglycinuria (2MBG) 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isobutyrylglycinuria (IBG) Isovaleric acidemia (IVA) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Cystic fibrosis (CF) Hearing loss (HEAR)

South CarolinaAmino Acid Disorders Argininosuccinic aciduria (ASA) Benign hyperphenylalaninemia (H-PHE) Biopterin defect in cofactor biosynthesis (BIOPT-BS) Biopterin defect in cofactor regeneration (BIOPT-REG) Citrullinemia, type I (CIT) Citrullinemia, type II (CIT II) Classic phenylketonuria (PKU) Homocystinuria (HCY) Hypermethioninemia (MET) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I) Tyrosinemia, type II (TYR II) Tyrosinemia, type III (TYR III)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid Oxidation Disorders 2,4 Dienoyl-CoA reductase deficiency (DE RED) Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase I deficiency (CPT-IA) Carnitine palmitoyltransferase type II deficiency (CPT-II) Carnitine uptake defect (CUD) Glutaric acidemia, type II (GA-2) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Medium-chain ketoacyl-CoA thiolase deficiency (MCAT) Medium/short-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD) Short-chain acyl-CoA dehydrogenase deficiency (SCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb) S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 2-Methyl-3-hydroxybutyric acidemia (2M3HBA) 2-Methylbutyrylglycinuria (2MBG) 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) 3-Methylglutaconic aciduria (3MGA) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Isobutyrylglycinuria (IBG) Isovaleric acidemia (IVA) Malonic acidemia (MAL) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Methylmalonic acidemia with homocystinuria (Cbl C, D, F) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Cystic fibrosis (CF) Galactoepimerase deficiency (GALE) Galactokinase deficiency (GALK) Hearing loss (HEAR)

GeorgiaAmino Acid Disorders Argininosuccinic aciduria (ASA) Citrullinemia, type I (CIT) Classic phenylketonuria (PKU) Homocystinuria (HCY) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders Carnitine uptake defect (CUD) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isovaleric acidemia (IVA) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Cystic fibrosis (CF) Hearing loss (HEAR)

FloridaAmino Acid Disorders Argininosuccinic aciduria (ASA) Citrullinemia, type I (CIT) Classic phenylketonuria (PKU) Homocystinuria (HCY) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I) Tyrosinemia, type II (TYR II)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase I deficiency (CPT-IA) Carnitine palmitoyltransferase type II deficiency (CPT-II) Carnitine uptake defect (CUD) Glutaric acidemia, type II (GA-2) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Short-chain acyl-CoA dehydrogenase deficiency (SCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isovaleric acidemia (IVA) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Cystic fibrosis (CF) Hearing loss (HEAR) Severe combined immunodeficiency (SCID)

New YorkAmino Acid Disorders Argininemia (ARG) Argininosuccinic aciduria (ASA)State preferred name:argininosuccinic acidemia Benign hyperphenylalaninemia (H-PHE)State preferred name:Hyper-PHE Citrullinemia, type I (CIT)State preferred name:citrullinemia Citrullinemia, type II (CIT II) Classic phenylketonuria (PKU)State preferred name:phenylketonuria Homocystinuria (HCY) Hypermethioninemia (MET) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I) Tyrosinemia, type II (TYR II) Tyrosinemia, type III (TYR III)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)State preferred name:congenital hypothyroidismFatty Acid OxidationDisorders 2,4 Dienoyl-CoA reductase deficiency (DE RED) Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase I deficiency (CPT-IA) Carnitine palmitoyltransferase type II deficiency (CPT-II) Carnitine uptake defect (CUD) Glutaric acidemia, type II (GA-2)State preferred name:multiple acyl-CoA dehydrogenase deficiency Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)State preferred name:long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Medium-chain ketoacyl-CoA thiolase deficiency (MCAT) Medium/short-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD)State preferred name:Medium/short-chain hydroxyacyl-CoA dehydrogenase deficiency Short-chain acyl-CoA dehydrogenase deficiency (SCAD) Trifunctional protein deficiency (TFP)State preferred name:mitochondrial trifunctional protein deficiency Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb)State preferred name:Various other hemoglobinopathies S, Beta-thalassemia (Hb S/Th)State preferred name:Hb S/Beta-thalassemia S, C disease (Hb S/C)State preferred name:Hb SC disease Sickle cell anemia (Hb SS)State preferred name:Hb SS diseaseLysosomal Storage Disorders Krabbe diseaseOrganic Acid Conditions 2-Methyl-3-hydroxybutyric acidemia (2M3HBA)State preferred name:2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency 2-Methylbutyrylglycinuria (2MBG)State preferred name:2-methylbutyryl-CoA dehydrogenase deficiency 3-Hydroxy-3-methylglutaric aciduria (HMG)State preferred name:3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) 3-Methylglutaconic aciduria (3MGA) Beta-ketothiolase deficiency (BKT)State preferred name:mitochondrial acetoacetyl-CoA thiolase deficiency Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD)State preferred name:multiple carboxylase deficiency Isobutyrylglycinuria (IBG)State preferred name:isobutyryl-CoA dehydrogenase deficiency Isovaleric acidemia (IVA) Malonic acidemia (MAL) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Methylmalonic acidemia with homocystinuria (Cbl C, D, F) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT)State preferred name:galactosemia Critical congenital heart disease (CCHD) Cystic fibrosis (CF) Hearing loss (HEAR) Human immunodeficiency virus (HIV) Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH)State preferred name:Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome Severe combined immunodeficiency (SCID)

PennsylvaniaAmino Acid Disorders Argininosuccinic aciduria (ASA) Citrullinemia, type I (CIT) Classic phenylketonuria (PKU) Homocystinuria (HCY) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders Carnitine uptake defect (CUD) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Glucose-6-phosphate dehydrogenase deficiency (G6PD) Hemoglobinopathies (Var Hb) S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isovaleric acidemia (IVA) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Critical congenital heart disease (CCHD) Cystic fibrosis (CF) Hearing loss (HEAR) Severe combined immunodeficiency (SCID)

VermontAmino Acid Disorders Argininosuccinic aciduria (ASA) Citrullinemia, type I (CIT) Citrullinemia, type II (CIT II) Classic phenylketonuria (PKU) Homocystinuria (HCY) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid Oxidation Disorders Carnitine uptake defect (CUD) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isovaleric acidemia (IVA) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Cystic fibrosis (CF) Hearing loss (HEAR)

New HampshireAmino Acid Disorders Argininemia (ARG) Argininosuccinic aciduria (ASA) Citrullinemia, type I (CIT) Classic phenylketonuria (PKU) Homocystinuria (HCY) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders Carnitine palmitoyltransferase type II deficiency (CPT-II) Carnitine uptake defect (CUD) Glutaric acidemia, type II (GA-2)State preferred name:multiple acyl-CoA dehydrogenase deficiency Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) Beta-ketothiolase deficiency (BKT)State preferred name:mitochondrial acetoacetyl-CoA thiolase deficiency Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD)State preferred name:infant multiple carboxylase deficiency Isovaleric acidemia (IVA) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B)State preferred name:Cobalamin A,B Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Congenital Toxoplasmosis (TOXO) Critical congenital heart disease (CCHD) Cystic fibrosis (CF) Hearing loss (HEAR) Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH)

MaineAmino Acid Disorders Argininemia (ARG) Argininosuccinic aciduria (ASA) Citrullinemia, type I (CIT) Classic phenylketonuria (PKU)State preferred name:phenylketonuria Homocystinuria (HCY) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I) Tyrosinemia, type II (TYR II)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)State preferred name:congenital hypothyroidismFatty Acid OxidationDisorders Carnitine palmitoyltransferase type II deficiency (CPT-II) Carnitine uptake defect (CUD) Glutaric acidemia, type II (GA-2) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Short-chain acyl-CoA dehydrogenase deficiency (SCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb) S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isovaleric acidemia (IVA) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Methylmalonic acidemia with homocystinuria (Cbl C, D, F) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT)State preferred name:galactosemia Cystic fibrosis (CF) Hearing loss (HEAR) Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH)

MassachusettsAmino Acid Disorders Argininemia (ARG) Argininosuccinic aciduria (ASA) Benign hyperphenylalaninemia (H-PHE) Biopterin defect in cofactor biosynthesis (BIOPT-BS) Biopterin defect in cofactor regeneration (BIOPT-REG) Carbamoyl phosphate synthetase I deficiency (CPS) Citrullinemia, type I (CIT) Citrullinemia, type II (CIT II) Classic phenylketonuria (PKU) Homocystinuria (HCY) Hypermethioninemia (MET) Maple syrup urine disease (MSUD) Ornithine transcarbamylase deficiency (OTC) Tyrosinemia, type I (TYR I) Tyrosinemia, type II (TYR II) Tyrosinemia, type III (TYR III)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders Carnitine palmitoyltransferase I deficiency (CPT-IA) Carnitine uptake defect (CUD) Glutaric acidemia, type II (GA-2) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Medium-chain ketoacyl-CoA thiolase deficiency (MCAT) Short-chain acyl-CoA dehydrogenase deficiency (SCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb) S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 2-Methyl-3-hydroxybutyric acidemia (2M3HBA) 2-Methylbutyrylglycinuria (2MBG) 3-Hydroxy-3-methylglutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) 3-Methylglutaconic aciduria (3MGA) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD) Isobutyrylglycinuria (IBG) Isovaleric acidemia (IVA) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B) Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT) Methylmalonic acidemia with homocystinuria (Cbl C, D, F) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Congenital Toxoplasmosis (TOXO) Cystic fibrosis (CF) Galactoepimerase deficiency (GALE) Galactokinase deficiency (GALK) Hearing loss (HEAR) Severe combined immunodeficiency (SCID)

Rhode IslandAmino Acid Disorders Argininosuccinic aciduria (ASA) Citrullinemia, type I (CIT) Classic phenylketonuria (PKU) Homocystinuria (HCY) Maple syrup urine disease (MSUD) Tyrosinemia, type I (TYR I)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders Carnitine uptake defect (CUD) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders S, Beta-thalassemia (Hb S/Th) S, C disease (Hb S/C) Sickle cell anemia (Hb SS)Organic Acid Conditions 3-Hydroxy-3-methylglutaric aciduria (HMG)State preferred name:HMG-CoA lysase deficiency 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC) Beta-ketothiolase deficiency (BKT) Glutaric acidemia type I (GA1) Holocarboxylase synthetase deficiency (MCD)State preferred name:multiple carboxylase deficiency Isovaleric acidemia (IVA) Methylmalonic acidemia (cobalamin disorders) (Cbl A,B)State preferred name:CblA or cblB type Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT)State preferred name:methylmalonic acidemia (mutase deficiency) Propionic acidemia (PROP)Other Disorders Biotinidase deficiency (BIOT) Classic galactosemia (GALT) Cystic fibrosis (CF) Hearing loss (HEAR)

ConnecticutAmino Acid Disorders Argininemia (ARG)State preferred name:arginase deficiency Argininosuccinic aciduria (ASA)State preferred name:argininosuccinate lyase deficiency Citrullinemia, type I (CIT)State preferred name:citrullinemia Classic phenylketonuria (PKU)State preferred name:hyperphenylalaninemia classic type Homocystinuria (HCY) Hypermethioninemia (MET) Maple syrup urine disease (MSUD) Nonketotic hyperglycinemia (NKH) Ornithine transcarbamylase deficiency (OTC) Tyrosinemia, type I (TYR I)Endocrine Disorders Congenital adrenal hyperplasia (CAH) Primary congenital hypothyroidism (CH)Fatty Acid OxidationDisorders 2,4 Dienoyl-CoA reductase deficiency (DE RED) Carnitine acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase I deficiency (CPT-IA)State preferred name:carnitine palmitoyltransferase deficiency- type IA Carnitine palmitoyltransferase type II deficiency (CPT-II) Carnitine uptake defect (CUD) Glutaric acidemia, type II (GA-2) Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Short-chain acyl-CoA dehydrogenase deficiency (SCAD) Trifunctional protein deficiency (TFP) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Hemoglobin Disorders Hemoglobinopathies (Var Hb) S, Beta-thalassemia (Hb S/Th) S, C