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 (PRIMARY OVARIAN INSUFFICIENCY); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3)
Year introduced: 2000(1966)
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Tree 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
MeSH Unique ID: D005693
Entry Terms:
- Galactosemia
- Galactokinase Deficiency Disease
- Galactokinase Deficiency Diseases
- Deficiency Disease, Galactokinase
- Galactokinase Deficiency
- Deficiencies, Galactokinase
- Deficiency, Galactokinase
- Galactokinase Deficiencies
- Galactosemia 2
- Galactosemia 2s
- GALK Deficiency
- Deficiencies, GALK
- Deficiency, GALK
- GALK Deficiencies
- Hereditary Galactokinase Deficiency
- Deficiencies, Hereditary Galactokinase
- Deficiency, Hereditary Galactokinase
- Galactokinase Deficiencies, Hereditary
- Galactokinase Deficiency, Hereditary
- Hereditary Galactokinase Deficiencies
- Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease
- Galactose 1 Phosphate Uridyl Transferase Deficiency Disease
- Classic Galactosemia
- Classic Galactosemias
- Galactosemias, Classic
- 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 Deficiencies
- Galactose 1 Phosphate Uridyltransferase Deficiency
- Uridyltransferase Deficiencies, Galactose-1-Phosphate
- Uridyltransferase Deficiency, Galactose-1-Phosphate
- Galactose-1-Phosphate Uridylyltransferase Deficiency
- Deficiencies, Galactose-1-Phosphate Uridylyltransferase
- Deficiency, Galactose-1-Phosphate Uridylyltransferase
- Galactose-1-Phosphate Uridylyltransferase Deficiencies
- Galactose 1 Phosphate Uridylyltransferase Deficiency
- Uridylyltransferase Deficiencies, Galactose-1-Phosphate
- Uridylyltransferase Deficiency, Galactose-1-Phosphate
- 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
- UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency Disease
- UTP Hexose 1 Phosphate Uridylyltransferase Deficiency Disease
- UDPglucose 4-Epimerase Deficiency Disease
- UDPglucose 4 Epimerase Deficiency Disease
- Deficiency Disease, UDP-Galactose-4-Epimerase
- Deficiency Diseases, UDP-Galactose-4-Epimerase
- Deficiency Disease, UDP Galactose 4 Epimerase
- UDP-Galactose-4-Epimerase Deficiency Diseases
- Deficiency Disease, UDPglucose 4-Epimerase
- Deficiency Disease, UDPglucose 4 Epimerase
- Galactose Epimerase Deficiency
- Deficiencies, Galactose Epimerase
- Deficiency, Galactose Epimerase
- Galactose Epimerase Deficiencies
- Galactosemia 3
- Galactosemia 3s
- 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 Deficiencies
- UDP Galactose 4 Epimerase Deficiency
- UDP-Galactose-4-Epimerase Deficiency Disease
- UDP Galactose 4 Epimerase Deficiency Disease
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