5C51.40
category
Galactose-1-phosphate uridyltransferase deficiency
Definition
Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.
Also indexed as
Classical galactosaemiaGALPUT deficiency - [Galactose-4-phosphate uridyltransferase] deficiencyGalactose-1-phosphate uridyltransferase deficiencyclassic galactosaemiadeficiency of galactose-1-phosphate uridylyltransferasedeficiency of hexose-1-phosphate uridylyltransferasedeficiency of udpglucose-hexose-1-phosphate uridylyltransferasedeficiency of uridyl transferasedeficiency of utp-hexose-1-phosphate uridylyltransferasegalactose-1-phosphate uridyl transferase deficiencytransferase deficiency galactosemiautp-hexose-1-phosphate uridyltransferase deficiency