GalactosemiaReported by:

Crest Anthony BrteañaBSED 3C

West Visayas State University

 a disorder that affects how the body processes a simple sugar called galactose.

Galactose◦  It is primarily part of a larger sugar called

lactose, which is found in all dairy products and many baby formulas.

Galactosemia

Galactosemia type I Most commona and most severe

Galactosemia type II (also called galactokinase deficiency)

Galactosemia type III galactose epimerase deficiency

Types of Galactosemia

Classic galactosemia occurs in 1 in 30,000 to 60,000 newborns.

Galactosemia type II and type III are less common;

type II probably affects fewer than 1 in 100,000 newborns and

type III appears to be very rare.

How common is Galactosemia ?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.

The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

How people inherit Galactosemia?

Infants with galactosemia can develop symptoms in the first few days of life if they eat formula or breast milk that contains lactose.

The symptoms may be due to a serious blood infection with the bacteria E. coli.

Symptoms

Convulsions Irritability Lethargy Poor feeding (baby refuses to eat formula

containing milk) Poor weight gain Yellow skin and whites of the eyes

(jaundice) Vomiting

Amino acids in the urine and/or blood plasma (aminoaciduria)

Enlarged liver (hepatomegaly) Fluid in the abdomen (ascites) Low blood sugar (hypoglycemia)

Signs

People with this condition must avoid all milk, milk-containing products (including dry milk), and other foods that contain galactose for life. It is essential to read product labels and be an informed consumer.

treatment

Infants can be fed with:

Soy formula Meat-based formula or Nutramigen (a 

protein hydrolysate formula) Another lactose-free formula Calcium supplements are recommended

Galactosemia II is caused by changes in both copies of the gene that codes for an enzyme called galactokinase (GALK).

The frequency of occurrence of galactosemia II is about one in 100,000–155,000 births.

Galactosemia II

Galactosemia II is less harmful than galactosemia I.

Babies born with galactosemia II will develop cataracts at an early age unless they are given a galactose-free diet.

They do not generally suffer from liver damage or neurologic disturbances.

Galactosemia III is caused by changes in the gene that codes for an enzyme called uridyl diphosphogalactose-4-epimerase (GALE). This form of galactosemia is very rare.

Galactosemia III