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)

Synonyms: UDPglucose 4-Epimerase Deficiency Disease UDPglucose 4 Epimerase Deficiency Disease Deficiencies, Galactose-1-Phosphate Uridylyltransferase Uridyltransferase Deficiency, Galactose-1-Phosphate Galactose-1-Phosphate Uridyltransferase Deficiency Epimerase Deficiency Galactosemia UDP Galactose 4 Epimerase Deficiency Deficiency Galactosemias, Epimerase GALT Deficiencies Galactosemia 2 Hereditary Galactokinase Deficiencies Galactosemia 2s Galactosemia 3 UTP Hexose 1 Phosphate Uridylyltransferase Deficiency Disease Galactokinase Deficiencies, Hereditary UDPGlucose Hexose-1-Phosphate Uridylyltransferase Deficiency UTP Hexose 1 Phosphate Uridylyltransferase Deficiency Deficiency Disease, UDP-Galactose-4-Epimerase Classic Galactosemia Deficiencies, Galactose Epimerase Deficiency Disease, UDP Galactose 4 Epimerase UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency Disease Deficiencies, GALK Galactokinase Deficiencies Galactose Epimerase Deficiencies Deficiencies, GALT Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase UDP-Galactose-4-Epimerase Deficiencies Galactose-1-Phosphate Uridyltransferase Deficiencies Uridylyltransferase Deficiency, Galactose-1-Phosphate Deficiency Disease, UDPglucose 4 Epimerase Deficiency, Hereditary Galactokinase Galactosemia 3s Hereditary Galactokinase Deficiency Deficiencies, Galactokinase Galactose-1-Phosphate Uridylyltransferase Deficiency Deficiency Galactosemia, Epimerase Deficiency, Galactose Epimerase Galactose Epimerase Deficiency Deficiency, UDP-Galactose-4-Epimerase Galactosemia, Epimerase Deficiency Deficiencies, GALE GALE Deficiencies Galactosemia IIIs GALE Deficiency Galactose-1-Phosphate Uridylyltransferase Deficiencies Deficiencies, UDP-Galactose-4-Epimerase Uridylyltransferase Deficiencies, Galactose-1-Phosphate Galactosemias, Classic UDP-Galactose-4-Epimerase Deficiency Diseases Deficiencies, Hereditary Galactokinase UDP Galactose 4 Epimerase Deficiency Disease GALK Deficiency GALK Deficiencies Deficiency, GALT Galactose 1 Phosphate Uridyl Transferase Deficiency Disease Galactose 1 Phosphate Uridylyltransferase Deficiency Galactose 1 Phosphate Uridyltransferase Deficiency Galactosemia, Classic UDP-Galactose-4-Epimerase Deficiency Deficiency, GALK Deficiency, GALE Galactokinase Deficiency Diseases Deficiency, Galactokinase Deficiency Diseases, UDP-Galactose-4-Epimerase Galactosemia III Deficiency, Galactose-1-Phosphate Uridylyltransferase Classic Galactosemias Deficiency Disease, Galactokinase UDPGlucose Hexose 1 Phosphate Uridylyltransferase Deficiency Galactosemias Deficiency Disease, Galactose 1 Phosphate Uridyl Transferase GALT Deficiency Uridyltransferase Deficiencies, Galactose-1-Phosphate Galactokinase Deficiency, Hereditary Galactosemia UTP Hexose-1-Phosphate Uridylyltransferase Deficiency UDP-Galactose-4-Epimerase Deficiency Disease Galactokinase Deficiency Galactosemias, Epimerase Deficiency Epimerase Deficiency Galactosemias Galactokinase Deficiency Disease Deficiency Disease, UDPglucose 4-Epimerase Deficiency, Galactose-1-Phosphate Uridyltransferase Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease Deficiencies, Galactose-1-Phosphate Uridyltransferase