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Pyruvate Dehydrogenase Complex Deficiency Disease MeSH Descriptor Data 2022


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
Pyruvate Dehydrogenase Complex Deficiency Disease Preferred
Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal Narrower
Ataxia with Lactic Acidosis, Type I Narrower
Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease Narrower
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