Structured Summary
Abstract
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)
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MeSH Record
Synonyms
85 entry terms
- Galactosemia
- 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 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
- Classic Galactosemias
- Deficiencies, GALE
- Deficiencies, GALK
- Deficiencies, GALT
- Deficiencies, Galactokinase
- Deficiencies, Galactose Epimerase
- Deficiencies, Galactose-1-Phosphate Uridyltransferase
- Deficiencies, Galactose-1-Phosphate Uridylyltransferase
- Deficiencies, Hereditary Galactokinase
- Deficiencies, UDP-Galactose-4-Epimerase
- Deficiency Disease, Galactose 1 Phosphate Uridyl Transferase
- Deficiency Disease, UDP Galactose 4 Epimerase
- Deficiency Disease, UDPglucose 4 Epimerase
- Deficiency Diseases, UDP-Galactose-4-Epimerase
- Deficiency Galactosemia, Epimerase
- Deficiency Galactosemias, Epimerase
- Deficiency, GALE
- Deficiency, GALK
- Deficiency, GALT
- Deficiency, Galactokinase
- Deficiency, Galactose Epimerase
- Deficiency, Galactose-1-Phosphate Uridyltransferase
- Deficiency, Galactose-1-Phosphate Uridylyltransferase
- Deficiency, Hereditary Galactokinase
- Deficiency, UDP-Galactose-4-Epimerase
- Epimerase Deficiency Galactosemias
- GALE Deficiencies
- GALK Deficiencies
- GALT Deficiencies
- Galactokinase Deficiencies
- Galactokinase Deficiencies, Hereditary
- Galactokinase Deficiency Diseases
- Galactokinase Deficiency, Hereditary
- Galactose 1 Phosphate Uridyl Transferase Deficiency Disease
- Galactose 1 Phosphate Uridyltransferase Deficiency
- Galactose 1 Phosphate Uridylyltransferase Deficiency
- Galactose Epimerase Deficiencies
- Galactose-1-Phosphate Uridyltransferase Deficiencies
- Galactose-1-Phosphate Uridylyltransferase Deficiencies
- Galactosemia 2s
- Galactosemia 3s
- Galactosemia IIIs
- Galactosemia, Epimerase Deficiency
- Galactosemias, Classic
- Galactosemias, Epimerase Deficiency
- Hereditary Galactokinase Deficiencies
- UDP Galactose 4 Epimerase Deficiency
- UDP Galactose 4 Epimerase Deficiency Disease
- UDP-Galactose-4-Epimerase Deficiencies
- UDP-Galactose-4-Epimerase Deficiency Diseases
- UDPGlucose Hexose 1 Phosphate Uridylyltransferase Deficiency
- UDPglucose 4 Epimerase Deficiency Disease
- UTP Hexose 1 Phosphate Uridylyltransferase Deficiency
- UTP Hexose 1 Phosphate Uridylyltransferase Deficiency Disease
- Uridyltransferase Deficiencies, Galactose-1-Phosphate
- Uridyltransferase Deficiency, Galactose-1-Phosphate
- Uridylyltransferase Deficiencies, Galactose-1-Phosphate
- Uridylyltransferase Deficiency, Galactose-1-Phosphate
MeSH Record
Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
MeSH Record
History Note
2000(1966)
MeSH Hierarchy
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MeSH Record
NLM Classification
QU 265.5.C3
AMA Style
References
- National Library of Medicine. Galactosemias. Medical Subject Headings (MeSH). 2026. Unique ID D005693. http://id.nlm.nih.gov/mesh/2026/D005693
- Galactosemias. In: Wikipedia. https://en.wikipedia.org/wiki/Galactosemia
- Galactosemias. In: Wikidata. https://www.wikidata.org/wiki/Q774483