5C51.40
Galactose-1-phosphate uridyltransferase deficiency
Deficiência de galactose-1 fosfato uridiltransferase
CategoryDefinition
Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.
Index Terms
Galactose-1-phosphate uridyltransferase deficiencyClassical galactosaemiaGALPUT deficiency - [Galactose-4-phosphate uridyltransferase] deficiencyclassic galactosaemiadeficiency of hexose-1-phosphate uridylyltransferasedeficiency of udpglucose-hexose-1-phosphate uridylyltransferasedeficiency of galactose-1-phosphate uridylyltransferasegalactose-1-phosphate uridyl transferase deficiencytransferase deficiency galactosemiadeficiency of uridyl transferasedeficiency of utp-hexose-1-phosphate uridylyltransferaseutp-hexose-1-phosphate uridyltransferase deficiency