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Galactosemia - Symptom

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:

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)
  • Reviewed last on: 4/2/2007
  • Reviewed By: A.D.A.M. Editorial Team: Greg Juhn, M.T.P.W., David R. Eltz, Kelli A. Stacy. Previously reviewed by Lamya Alarif, Ph.D., H.C.L.D., Immunology and Genetics Associates, McLean, VA. Review provided by VeriMed Healthcare Network (3/13/2006).