MeSH Browser

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

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
  - Brain Diseases [C10.228.140]
    - Brain Diseases, Metabolic [C10.228.140.163]
      - Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
        
        Adrenoleukodystrophy [C10.228.140.163.100.084]
        
        Cerebral Amyloid Angiopathy, Familial [C10.228.140.163.100.168]
        
        Galactosemias [C10.228.140.163.100.320]
        
        Hartnup Disease [C10.228.140.163.100.355]
        
        Hepatolenticular Degeneration [C10.228.140.163.100.360]
        
        Hereditary Central Nervous System Demyelinating Diseases [C10.228.140.163.100.362]
        
        Homocystinuria [C10.228.140.163.100.365]
        
        Hyperglycinemia, Nonketotic [C10.228.140.163.100.375]
        
        Hyperlysinemias [C10.228.140.163.100.380]
        
        Leigh Disease [C10.228.140.163.100.412]
        
        Lesch-Nyhan Syndrome [C10.228.140.163.100.425]
        
        Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
        
        Maple Syrup Urine Disease [C10.228.140.163.100.520]
        
        MELAS Syndrome [C10.228.140.163.100.535]
        
        Menkes Kinky Hair Syndrome [C10.228.140.163.100.540]
        
        MERRF Syndrome [C10.228.140.163.100.545]
        
        Mevalonate Kinase Deficiency [C10.228.140.163.100.593]
        
        Oculocerebrorenal Syndrome [C10.228.140.163.100.640]
        
        Phenylketonurias [C10.228.140.163.100.687]
        
        Pyruvate Carboxylase Deficiency Disease [C10.228.140.163.100.725]
        
        Pyruvate Dehydrogenase Complex Deficiency Disease [C10.228.140.163.100.750]
        
        Refsum Disease [C10.228.140.163.100.813]
        
        Refsum Disease, Infantile [C10.228.140.163.100.844]
        
        Tyrosinemias [C10.228.140.163.100.875]
        
        Urea Cycle Disorders, Inborn [C10.228.140.163.100.937]
        
        Zellweger Syndrome [C10.228.140.163.100.968]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Brain Diseases, Metabolic, Inborn [C16.320.565.189]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Carbohydrate Metabolism, Inborn Errors [C16.320.565.202]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Brain Diseases, Metabolic [C18.452.132]
    - Brain Diseases, Metabolic, Inborn [C18.452.132.100]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Brain Diseases, Metabolic, Inborn [C18.452.648.189]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Carbohydrate Metabolism, Inborn Errors [C18.452.648.202]

Galactosemias Preferred

Galactokinase Deficiency Disease Narrower

Concept UI: M0335204
Terms: Galactokinase Deficiency Disease Preferred Term
Term UI T368272
Date11/08/1999
LexicalTag NON
ThesaurusID; Deficiency Disease, Galactokinase
Term UI T368276
Date11/08/1999
LexicalTag NON
ThesaurusID NLM (2000); Galactokinase Deficiency
Term UI T817363
Date02/06/2012
LexicalTag NON
ThesaurusID ORD (2010); Galactosemia 2
Term UI T737923
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); GALK Deficiency
Term UI T817364
Date02/06/2012
LexicalTag ABX
ThesaurusID ORD (2010); Hereditary Galactokinase Deficiency
Term UI T817365
Date02/06/2012
LexicalTag NON
ThesaurusID ORD (2010)

Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease Narrower

UDPglucose 4-Epimerase Deficiency Disease Narrower

Galactosemias MeSH Descriptor Data 2024