Catalog
Galactose-1-phosphate uridyltransferase deficiency
Link to WHO Definition
Galactose-1-phosphate uridyltransferase deficiency – http://id.who.int/icd/entity/2011000259
Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.