| Descriptor English: | Galactosemias | ||||||
| Descriptor Spanish: |
Galactosemias
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| Descriptor Portuguese: | Galactosemias | ||||||
| Descriptor French: | Galactosémies | ||||||
| Entry term(s): |
Classic Galactosemia 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, Galactokinase Deficiency Disease, Galactose 1 Phosphate Uridyl Transferase Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease, UDP Galactose 4 Epimerase Deficiency Disease, UDP-Galactose-4-Epimerase Deficiency Disease, UDPglucose 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 Galactosemia Epimerase Deficiency Galactosemias GALE Deficiencies GALE Deficiency GALK Deficiencies GALK Deficiency GALT Deficiencies GALT Deficiency Galactokinase Deficiencies Galactokinase Deficiencies, Hereditary Galactokinase Deficiency Galactokinase Deficiency Disease 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 Epimerase Deficiency Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease Galactose-1-Phosphate Uridyltransferase Deficiencies Galactose-1-Phosphate Uridyltransferase Deficiency Galactose-1-Phosphate Uridylyltransferase Deficiencies Galactose-1-Phosphate Uridylyltransferase Deficiency Galactosemia Galactosemia 2 Galactosemia 2s Galactosemia 3 Galactosemia 3s Galactosemia III Galactosemia IIIs Galactosemia, Classic Galactosemia, Epimerase Deficiency Galactosemias, Classic Galactosemias, Epimerase Deficiency Hereditary Galactokinase Deficiencies Hereditary Galactokinase Deficiency UDP Galactose 4 Epimerase Deficiency UDP Galactose 4 Epimerase Deficiency Disease UDP-Galactose-4-Epimerase Deficiencies UDP-Galactose-4-Epimerase Deficiency UDP-Galactose-4-Epimerase Deficiency Disease UDP-Galactose-4-Epimerase Deficiency Diseases UDPGlucose Hexose 1 Phosphate Uridylyltransferase Deficiency UDPGlucose Hexose-1-Phosphate Uridylyltransferase Deficiency UDPglucose 4 Epimerase Deficiency Disease UDPglucose 4-Epimerase Deficiency Disease UTP Hexose 1 Phosphate Uridylyltransferase Deficiency UTP Hexose 1 Phosphate Uridylyltransferase 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 |
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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 |
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| RDF Unique Identifier: | https://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) |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Public MeSH Note: | 2000; see GALACTOSEMIA 1966-1999 |
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| History Note: | 2000(1966) |
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| Related: |
Galactokinase
MeSH Galactose MeSH UDPglucose 4-Epimerase MeSH UDPglucose-Hexose-1-Phosphate Uridylyltransferase MeSH UTP-Hexose-1-Phosphate Uridylyltransferase MeSH | ||||||
| DeCS ID: | 5832 | ||||||
| Unique ID: | D005693 | ||||||
| NLM Classification: | WD 205.5.C2 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2000/01/01 | ||||||
| Date of Entry: | 1999/01/01 | ||||||
| Revision Date: | 2013/07/08 |
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Galactosemias
- Preferred
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease
- Narrower
UDPglucose 4-Epimerase Deficiency Disease
- Narrower
Galactokinase Deficiency Disease
- Narrower
| Concept UI |
M0008941 |
| 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) |
| Preferred term | Galactosemias |
| Entry term(s) |
Galactosemia |
| Concept UI |
M0335205 |
| Preferred term | Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease |
| Entry term(s) |
Classic Galactosemia Classic Galactosemias Deficiencies, GALT Deficiencies, Galactose-1-Phosphate Uridyltransferase Deficiencies, Galactose-1-Phosphate Uridylyltransferase Deficiency Disease, Galactose 1 Phosphate Uridyl Transferase Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase Deficiency Galactosemia, Epimerase Deficiency Galactosemias, Epimerase Deficiency, GALT Deficiency, Galactose-1-Phosphate Uridyltransferase Deficiency, Galactose-1-Phosphate Uridylyltransferase Epimerase Deficiency Galactosemia Epimerase Deficiency Galactosemias GALT Deficiencies GALT Deficiency Galactose 1 Phosphate Uridyl Transferase Deficiency Disease Galactose 1 Phosphate Uridyltransferase Deficiency Galactose 1 Phosphate Uridylyltransferase Deficiency Galactose-1-Phosphate Uridyltransferase Deficiencies Galactose-1-Phosphate Uridyltransferase Deficiency Galactose-1-Phosphate Uridylyltransferase Deficiencies Galactose-1-Phosphate Uridylyltransferase Deficiency Galactosemia, Classic Galactosemia, Epimerase Deficiency Galactosemias, Classic Galactosemias, Epimerase Deficiency UDPGlucose Hexose 1 Phosphate Uridylyltransferase Deficiency UDPGlucose Hexose-1-Phosphate Uridylyltransferase Deficiency UTP Hexose 1 Phosphate Uridylyltransferase Deficiency UTP Hexose 1 Phosphate Uridylyltransferase 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 |
| Concept UI |
M0335206 |
| Preferred term | UDPglucose 4-Epimerase Deficiency Disease |
| Entry term(s) |
Deficiencies, GALE Deficiencies, Galactose Epimerase Deficiencies, UDP-Galactose-4-Epimerase Deficiency Disease, UDP Galactose 4 Epimerase Deficiency Disease, UDP-Galactose-4-Epimerase Deficiency Disease, UDPglucose 4 Epimerase Deficiency Disease, UDPglucose 4-Epimerase Deficiency Diseases, UDP-Galactose-4-Epimerase Deficiency, GALE Deficiency, Galactose Epimerase Deficiency, UDP-Galactose-4-Epimerase GALE Deficiencies GALE Deficiency Galactose Epimerase Deficiencies Galactose Epimerase Deficiency Galactosemia 3 Galactosemia 3s Galactosemia III Galactosemia IIIs UDP Galactose 4 Epimerase Deficiency UDP Galactose 4 Epimerase Deficiency Disease UDP-Galactose-4-Epimerase Deficiencies UDP-Galactose-4-Epimerase Deficiency UDP-Galactose-4-Epimerase Deficiency Disease UDP-Galactose-4-Epimerase Deficiency Diseases UDPglucose 4 Epimerase Deficiency Disease |
| Concept UI |
M0335204 |
| Preferred term | Galactokinase Deficiency Disease |
| Entry term(s) |
Deficiencies, GALK Deficiencies, Galactokinase Deficiencies, Hereditary Galactokinase Deficiency Disease, Galactokinase Deficiency, GALK Deficiency, Galactokinase Deficiency, Hereditary Galactokinase GALK Deficiencies GALK Deficiency Galactokinase Deficiencies Galactokinase Deficiencies, Hereditary Galactokinase Deficiency Galactokinase Deficiency Diseases Galactokinase Deficiency, Hereditary Galactosemia 2 Galactosemia 2s Hereditary Galactokinase Deficiencies Hereditary Galactokinase Deficiency |
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