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Galactosemia
Galactosemia


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 and/or blood plasma)
  • 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)



Review Date: 3/13/2006
Reviewed By: Lamya Alarif, Ph.D., H.C.L.D., Immunology and Genetics Associates, McLean, VA. Review provided by VeriMed Healthcare Network.

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