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 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 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 Deficiency Disease, Galactokinase Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease 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

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".