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 (PRIMARY OVARIAN INSUFFICIENCY); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3)
Also Known As:
Galactosemia; Classic Galactosemia; UTP Hexose-1-Phosphate Uridylyltransferase Deficiency; Galactose 1 Phosphate Uridyl Transferase Deficiency Disease; UDP Galactose 4 Epimerase Deficiency Disease; Galactokinase Deficiency Disease; Deficiency Disease, Galactokinase; Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase; Deficiency Disease, UDP-Galactose-4-Epimerase; Deficiency Disease, UDPglucose 4-Epimerase; Epimerase Deficiency Galactosemia; GALE Deficiency; GALK Deficiency; GALT Deficiency; Galactokinase Deficiency; Galactose Epimerase Deficiency; Galactose-1-Phosphate Uridyltransferase Deficiency; Galactose-1-Phosphate Uridylyltransferase Deficiency; Galactosemia 2; Galactosemia 3; Galactosemia III; Galactosemia, Classic; Hereditary Galactokinase Deficiency; UDP-Galactose-4-Epimerase Deficiency; UDP-Galactose-4-Epimerase Deficiency Disease; UDPGlucose Hexose-1-Phosphate Uridylyltransferase Deficiency; UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency Disease; Classic Galactosemias; Deficiencies, GALE; Deficiencies, GALK; Deficiencies, GALT; Deficiencies, Galactokinase; Deficiencies, Galactose Epimerase; Deficiencies, Galactose-1-Phosphate Uridyltransferase; Deficiencies, Galactose-1-Phosphate Uridylyltransferase; Deficiencies, Hereditary Galactokinase; Deficiencies, UDP-Galactose-4-Epimerase; Deficiency Disease, Galactose 1 Phosphate Uridyl Transferase; Deficiency Disease, UDP Galactose 4 Epimerase; Deficiency Disease, UDPglucose 4 Epimerase; Deficiency Diseases, UDP-Galactose-4-Epimerase; Deficiency Galactosemia, Epimerase; Deficiency Galactosemias, Epimerase; Deficiency, GALE; Deficiency, GALK; Deficiency, GALT; Deficiency, Galactokinase; Deficiency, Galactose Epimerase; Deficiency, Galactose-1-Phosphate Uridyltransferase; Deficiency, Galactose-1-Phosphate Uridylyltransferase; Deficiency, Hereditary Galactokinase; Deficiency, UDP-Galactose-4-Epimerase; Epimerase Deficiency Galactosemias; GALE Deficiencies; GALK Deficiencies; GALT Deficiencies; Galactokinase Deficiencies; Galactokinase Deficiencies, Hereditary; Galactokinase Deficiency Diseases; Galactokinase Deficiency, Hereditary; Galactose 1 Phosphate Uridyltransferase Deficiency; Galactose 1 Phosphate Uridylyltransferase Deficiency; Galactose Epimerase Deficiencies; Galactose-1-Phosphate Uridyltransferase Deficiencies; Galactose-1-Phosphate Uridylyltransferase Deficiencies; Galactosemia 2s; Galactosemia 3s; Galactosemia IIIs; Galactosemia, Epimerase Deficiency; Galactosemias, Classic; Galactosemias, Epimerase Deficiency; Hereditary Galactokinase Deficiencies; UDP Galactose 4 Epimerase Deficiency; UDP-Galactose-4-Epimerase Deficiencies; UDP-Galactose-4-Epimerase Deficiency Diseases; UDPGlucose Hexose 1 Phosphate Uridylyltransferase Deficiency; UDPglucose 4 Epimerase Deficiency Disease; UTP Hexose 1 Phosphate Uridylyltransferase Deficiency; UTP Hexose 1 Phosphate Uridylyltransferase Deficiency Disease; Uridyltransferase Deficiencies, Galactose-1-Phosphate; Uridyltransferase Deficiency, Galactose-1-Phosphate; Uridylyltransferase Deficiencies, Galactose-1-Phosphate; Uridylyltransferase Deficiency, Galactose-1-Phosphate; Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease; UDPglucose 4-Epimerase Deficiency Disease