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Metabolism of Phenyl alanine & Tyrosine• phenyl alanine -essential
• Tyrosine- non essential
• Phenyl alanine & Tyrosine- Glucogenic & Ketogenic
Causes OF Phenylalanine1.Genetic Mutation of Phenylalanine 2. Genetic Mutation of Dihydropterin Reductase
Phenylketonuria & Central Nervous system
• Autosomal recessive gene
Effects on central nervous system
1. Mental retardation
2. Failure to walk or talk
3. Failure of growth
4. Seizure
5. Tremers
6. Low IQ
Phenylketonuria & Serotonin
• Accumulation of Phenylalanine in brain impairs transport & metabolism of tryptophan& Tyrosine
• Synthesis of Serotonin decreased defective synthesis of myelin sheath
• Tryptophan
↓
Serotonin ( an excitatory neurotransmitter from Tryptophan)
Hypopigmentation -Lack of pigmentation in skin ,eyes , hairDecrease melanin synthesis from Tyrosine ( phenylalanine is substrate for synthesis )
Elevated levels of Phenylalanine Phenyl lactate MOUSY ODOR OF URINEPhenyl acetate Phenyl glutamine
Phenylketonuria- Urinary excretion of metabolites
Diagnosis of Phenylketonuria• Increased serum levels of Phenylalanine
• Guthrie test (BIOASSAY -USING BACILLUS SUBTILIS )
• URINE + FeCl3 GREEN COLOR
Treatment of Phenylketonuria - (Dietary )
1. Low protein diet
2. Low Phe contents for 5 yrs
3. 5- hydroxy TRP/DOPA supplementation synthesis of Dopa /serotinine /catecholamines
4. Supplementation of Tyrosine
Treatment of Phenylketonuria –(Genetic)
Treatment of Phenylketonuria-awaited for clinical trials
• Gene Therapy
• Stem cell therapy
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