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)

Descriptor ID	D005693
MeSH Number(s)	C10.228.140.163.100.320 C16.320.565.189.320 C16.320.565.202.355 C18.452.132.100.320 C18.452.648.189.320 C18.452.648.202.355
Concept/Terms	Galactosemias Galactosemias Galactosemia Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease Galactose 1 Phosphate Uridyl Transferase Deficiency Disease Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease, Galactose 1 Phosphate Uridyl Transferase Epimerase Deficiency Galactosemia Deficiency Galactosemia, Epimerase Deficiency Galactosemias, Epimerase Epimerase Deficiency Galactosemias Galactosemia, Epimerase Deficiency Galactosemias, Epimerase Deficiency 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 Galactosemia, Classic GALT Deficiency Deficiencies, GALT Deficiency, GALT GALT Deficiencies UDPGlucose Hexose-1-Phosphate Uridylyltransferase Deficiency UDPGlucose Hexose 1 Phosphate Uridylyltransferase Deficiency UTP Hexose-1-Phosphate Uridylyltransferase Deficiency UTP Hexose 1 Phosphate Uridylyltransferase Deficiency Classic Galactosemia Classic Galactosemias Galactosemias, Classic Galactose-1-Phosphate Uridylyltransferase Deficiency Deficiencies, Galactose-1-Phosphate Uridylyltransferase Deficiency, Galactose-1-Phosphate Uridylyltransferase Galactose 1 Phosphate Uridylyltransferase Deficiency Galactose-1-Phosphate Uridylyltransferase Deficiencies Uridylyltransferase Deficiencies, Galactose-1-Phosphate Uridylyltransferase Deficiency, Galactose-1-Phosphate UDPglucose 4-Epimerase Deficiency Disease UDPglucose 4-Epimerase Deficiency Disease UDPglucose 4 Epimerase Deficiency Disease Deficiency Disease, UDPglucose 4-Epimerase Deficiency Disease, UDPglucose 4 Epimerase Galactose Epimerase Deficiency Deficiencies, Galactose Epimerase Deficiency, Galactose Epimerase Galactose Epimerase Deficiencies UDP-Galactose-4-Epimerase Deficiency Disease UDP Galactose 4 Epimerase Deficiency Disease Galactosemia III Galactosemia IIIs GALE Deficiency Deficiencies, GALE Deficiency, GALE GALE Deficiencies UDP-Galactose-4-Epimerase Deficiency Deficiencies, UDP-Galactose-4-Epimerase Deficiency, UDP-Galactose-4-Epimerase UDP Galactose 4 Epimerase Deficiency UDP-Galactose-4-Epimerase Deficiencies Deficiency Disease, UDP-Galactose-4-Epimerase Deficiency Disease, UDP Galactose 4 Epimerase Deficiency Diseases, UDP-Galactose-4-Epimerase UDP-Galactose-4-Epimerase Deficiency Diseases Galactosemia 3 Galactosemia 3s Galactokinase Deficiency Disease Galactokinase Deficiency Disease Galactokinase Deficiency Diseases Hereditary Galactokinase Deficiency Deficiencies, Hereditary Galactokinase Deficiency, Hereditary Galactokinase Galactokinase Deficiencies, Hereditary Galactokinase Deficiency, Hereditary Hereditary Galactokinase Deficiencies Galactosemia 2 Galactosemia 2s GALK Deficiency Deficiencies, GALK Deficiency, GALK GALK Deficiencies Deficiency Disease, Galactokinase Galactokinase Deficiency Deficiencies, Galactokinase Deficiency, Galactokinase Galactokinase Deficiencies

Below are MeSH descriptors whose meaning is more general than "Galactosemias".

Below are MeSH descriptors whose meaning is related to "Galactosemias".

Below are MeSH descriptors whose meaning is more specific than "Galactosemias".