Galactosemias

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Other terms
Galactosemia,Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease,Galactose 1 Phosphate Uridyl Transferase Deficiency Disease,Galactose-1-Phosphate Uridyltransferase Deficiency,Deficiencies, Galactose-1-Phosphate Uridyltransferase,Deficiency, Galactose-1-Phosphate Uridyltransferase,Galactose 1 Phosphate Uridyltransferase Deficiency,Galactose-1-Phosphate Uridyltransferase Deficiencies,Uridyltransferase Deficiencies, Galactose-1-Phosphate,Uridyltransferase Deficiency, Galactose-1-Phosphate,UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency Disease,UTP Hexose 1 Phosphate Uridylyltransferase Deficiency Disease,UDPglucose-Hexose-1-Phosphate Uridylyltransferase Deficiency,Deficiencies, UDPglucose-Hexose-1-Phosphate Uridylyltransferase,Deficiency, UDPglucose-Hexose-1-Phosphate Uridylyltransferase,UDPglucose Hexose 1 Phosphate Uridylyltransferase Deficiency,UDPglucose-Hexose-1-Phosphate Uridylyltransferase Deficiencies,Uridylyltransferase Deficiencies, UDPglucose-Hexose-1-Phosphate,Uridylyltransferase Deficiency, UDPglucose-Hexose-1-Phosphate,UTP Hexose-1-Phosphate Uridylyltransferase Deficiency,UTP Hexose 1 Phosphate Uridylyltransferase Deficiency,Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase,Deficiency Disease, Galactose 1 Phosphate Uridyl Transferase,Galactosemia, Classic,Classic Galactosemia,Classic Galactosemias,Galactosemias, Classic,UDPglucose 4-Epimerase Deficiency Disease,UDPglucose 4 Epimerase Deficiency Disease,Deficiency Disease, UDP-Galactose-4-Epimerase,Deficiency Disease, UDP Galactose 4 Epimerase,Deficiency Diseases, UDP-Galactose-4-Epimerase,UDP-Galactose-4-Epimerase Deficiency Diseases,Deficiency Disease, UDPglucose 4-Epimerase,Deficiency Disease, UDPglucose 4 Epimerase,UDP-Galactose-4-Epimerase Deficiency Disease,UDP Galactose 4 Epimerase Deficiency Disease,Galactokinase Deficiency Disease,Galactokinase Deficiency Diseases,Deficiency Disease, Galactokinase

Description
Galactosemias: A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (OVARIAN FAILURE, PREMATURE); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3)



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