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Galactosemias MeSH Descriptor Data 2022


MeSH Heading
Galactosemias
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
Unique ID
D005693
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D005693
Scope Note
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)
Entry Term(s)
Classic Galactosemia
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
Galactokinase Deficiency Disease
Galactose Epimerase Deficiency
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease
Galactose-1-Phosphate Uridyltransferase Deficiency
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactosemia
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
UDPglucose 4-Epimerase Deficiency Disease
UTP Hexose-1-Phosphate Uridylyltransferase Deficiency
UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency Disease
NLM Classification #
QU 265.5.C3
See Also
Galactokinase
Galactose
UDPglucose 4-Epimerase
UDPglucose-Hexose-1-Phosphate Uridylyltransferase
UTP-Hexose-1-Phosphate Uridylyltransferase
Public MeSH Note
2000; see GALACTOSEMIA 1966-1999
History Note
2000(1966)
Date Established
2000/01/01
Date of Entry
1999/01/01
Revision Date
2013/07/08
Galactosemias Preferred
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease Narrower
UDPglucose 4-Epimerase Deficiency Disease Narrower
Galactokinase Deficiency Disease Narrower
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