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Galactosemia

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Galactosemia

Alternative Names: Galactose-1-phosphate uridyl transferase deficiency; Galactokinase deficiency; Galactose-6-phosphate epimerase deficiency Symptoms: Jaundice (yellowish discoloration of the skin and the whites of the eyes) Vomiting Poor feeding (baby refusing to drink milk-containing formula) Poor weight gain Lethargy Irritability Convulsions Signs and tests: Hepatomegaly (enlarged liver) Hypoglycemia (low blood sugar) Aminoaciduria (amino acids are present in the urine) Cirrhosis Ascites (fluid collects in the abdomen) Mental retardation Cataract formation Tests include: Prenatal diagnosis by direct measurement of the enzyme galactose-1-phosphate uridyl transferase. The presence of "reducing substances" in the infant's urine with normal or low blood sugar while the infant is being fed breast milk or a formula containing lactose. A simple test on the urine indicates the presence of a reducing substance, and a specific enzymatic study on the urine can prove the substance to be galactose. Presence of chemicals, called ketones, in the urine. Measurement of enzyme activity in the red blood cells. Blood culture for bacteria infection (E. coli sepsis).

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