MeSH Browser

MeSH Heading: Pyruvate Dehydrogenase Complex Deficiency Disease
Tree Number(s): C10.228.140.163.100.750; C10.597.606.360.455.875; C16.320.322.500.875; C16.320.400.525.875; C16.320.565.189.750; C16.320.565.202.810.766; C18.452.132.100.750; C18.452.648.189.750; C18.452.648.202.810.766; C18.452.660.710
Unique ID: D015325
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D015325
Scope Note: An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE.
Entry Version: PYRUVATE DEHYDROGENASE COMPLEX DEFIC DIS
Entry Term(s): Ataxia with Lactic Acidosis; Ataxia with Lactic Acidosis I; Ataxia with Lactic Acidosis, Type I; Ataxia, Intermittent, with Abnormal Pyruvate Metabolism; Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency; Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency; Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease; Lactic Acidosis with Ataxia, Type I; Neonatal Pyruvate Dehydrogenase Complex Deficiency Disease; PDH Deficiency; PDHC Deficiency; PDHC Deficiency Disease; Pyruvate Decarboxylase Deficiency; Pyruvate Dehydrogenase Complex Deficiency; Pyruvate Dehydrogenase Complex Deficiency Disease, Juvenile; Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal; Pyruvate Dehydrogenase Deficiency; Type I Ataxia with Lactic Acidosis
Previous Indexing: Pyruvate Dehydrogenase Complex/deficiency (1974-1988)
See Also: Leigh Disease; Pyruvate Dehydrogenase Complex
Public MeSH Note: 2000; see PYRUVATE DEHYDROGENASE COMPLEX 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: 2018/07/01

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]

Nervous System Diseases [C10]
- Neurologic Manifestations [C10.597]
  - Neurobehavioral Manifestations [C10.597.606]
    - Intellectual Disability [C10.597.606.360]
      - X-Linked Intellectual Disability [C10.597.606.360.455]
        
        Adrenoleukodystrophy [C10.597.606.360.455.124]
        
        Coffin-Lowry Syndrome [C10.597.606.360.455.249]
        
        Fragile X Syndrome [C10.597.606.360.455.500]
        
        Glycogen Storage Disease Type IIb [C10.597.606.360.455.562]
        
        Lesch-Nyhan Syndrome [C10.597.606.360.455.625]
        
        Menkes Kinky Hair Syndrome [C10.597.606.360.455.687]
        
        Mucopolysaccharidosis II [C10.597.606.360.455.750]
        
        Pyruvate Dehydrogenase Complex Deficiency Disease [C10.597.606.360.455.875]
        
        Rett Syndrome [C10.597.606.360.455.937]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Genetic Diseases, X-Linked [C16.320.322]
    - X-Linked Intellectual Disability [C16.320.322.500]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Heredodegenerative Disorders, Nervous System [C16.320.400]
    - X-Linked Intellectual Disability [C16.320.400.525]

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 Dehydrogenase Complex Deficiency Disease Preferred

Concept UI: M0023594
Scope Note: An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE.
Terms: Pyruvate Dehydrogenase Complex Deficiency Disease Preferred Term
Term UI T364789
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); PDH Deficiency
Term UI T823109
Date06/07/2012
LexicalTag ABX
ThesaurusID; Ataxia, Intermittent, with Abnormal Pyruvate Metabolism
Term UI T823111
Date06/07/2012
LexicalTag NON
ThesaurusID OMIM (2013); Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency
Term UI T823112
Date06/07/2012
LexicalTag NON
ThesaurusID; Pyruvate Dehydrogenase Complex Deficiency
Term UI T823113
Date06/07/2012
LexicalTag NON
ThesaurusID; Pyruvate Dehydrogenase Deficiency
Term UI T823114
Date06/07/2012
LexicalTag NON
ThesaurusID; Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency
Term UI T842369
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); PDHC Deficiency
Term UI T843940
Date05/10/2013
LexicalTag ABX
ThesaurusID GHR (2014); Pyruvate Decarboxylase Deficiency
Term UI T811858
Date11/15/2011
LexicalTag NON
ThesaurusID; PDHC Deficiency Disease
Term UI T370070
Date11/03/1999
LexicalTag ABX
ThesaurusID NLM (2000)

Ataxia with Lactic Acidosis, Type I Narrower

Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease Narrower

Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal Narrower

Pyruvate Dehydrogenase Complex Deficiency Disease MeSH Descriptor Data 2025