MeSH Browser

MeSH Heading: Pyruvate Carboxylase Deficiency Disease
Tree Number(s): C10.228.140.163.100.725; C16.320.565.189.725; C16.320.565.202.810.666; C18.452.132.100.725; C18.452.648.189.725; C18.452.648.202.810.666; C18.452.660.705
Unique ID: D015324
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D015324
Scope Note: An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)
Entry Version: PYRUVATE CARBOXYLASE DEFIC DIS
Entry Term(s): Ataxia with Lactic Acidosis 2; Ataxia with Lactic Acidosis II; Ataxia with Lactic Acidosis, Type II; Deficiency Disease, Pyruvate Carboxylase; Lactic Acidosis with Ataxia, Type II; Pyruvate Carboxylase Deficiency; Type II Ataxia with Lactic Acidosis
Previous Indexing: Pyruvate Carboxylase/deficiency (1974-1988)
See Also: Pyruvate Carboxylase
Public MeSH Note: 2000; see PYRUVATE CARBOXYLASE DEFICIENCY 1991-1999; see PYRUVATE METABOLISM, INBORN ERRORS 1989-1990
History Note: 2000(1989); use PYRUVATE METABOLISM, INBORN ERRORS 1989-1990
Date Established: 1991/01/01
Date of Entry: 1988/06/01
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]
      - Pyruvate Metabolism, Inborn Errors [C16.320.565.202.810]
        
        Leigh Disease [C16.320.565.202.810.444]
        
        Pyruvate Carboxylase Deficiency Disease [C16.320.565.202.810.666]
        
        Pyruvate Dehydrogenase Complex Deficiency Disease [C16.320.565.202.810.766]

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]
      - Pyruvate Metabolism, Inborn Errors [C18.452.648.202.810]
        
        Leigh Disease [C18.452.648.202.810.444]
        
        Pyruvate Carboxylase Deficiency Disease [C18.452.648.202.810.666]
        
        Pyruvate Dehydrogenase Complex Deficiency Disease [C18.452.648.202.810.766]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Mitochondrial Diseases [C18.452.660]

Pyruvate Carboxylase Deficiency Disease Preferred

Concept UI: M0023593
Scope Note: An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)
Terms: Pyruvate Carboxylase Deficiency Disease Preferred Term
Term UI T364780
Date11/03/1999
LexicalTag NON
ThesaurusID; Ataxia with Lactic Acidosis II
Term UI T823044
Date06/06/2012
LexicalTag NON
ThesaurusID OMIM (2013); Ataxia with Lactic Acidosis, Type II
Term UI T370042
Date11/03/1999
LexicalTag NON
ThesaurusID; Deficiency Disease, Pyruvate Carboxylase
Term UI T370044
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Ataxia with Lactic Acidosis 2
Term UI T750723
Date05/07/2009
LexicalTag NON
ThesaurusID; Pyruvate Carboxylase Deficiency
Term UI T751433
Date05/18/2009
LexicalTag NON
ThesaurusID; Type II Ataxia with Lactic Acidosis
Term UI T370045
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Lactic Acidosis with Ataxia, Type II
Term UI T370043
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000)

Pyruvate Carboxylase Deficiency Disease MeSH Descriptor Data 2025