Pyruvate Dehydrogenase Complex Deficiency Disease (also known as PDH Deficiency, Deficiency, PDH): 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: n

NIH MeSH · D015325Diseases

Pyruvate Dehydrogenase Complex Deficiency Disease

Also known asPDH Deficiency · Deficiency, PDH · Ataxia, Intermittent, with Abnormal Pyruvate Metabolism · Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency · Pyruvate Dehydrogenase Complex Deficiency · Pyruvate Dehydrogenase Deficiency · Deficiency, Pyruvate Dehydrogenase · Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency · PDHC Deficiency · Deficiency, PDHC · Pyruvate Decarboxylase Deficiency · Deficiency, Pyruvate Decarboxylase

Definition

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.

MeSH classification

  • 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

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Common questions about Pyruvate Dehydrogenase Complex Deficiency Disease

What does Pyruvate Dehydrogenase Complex Deficiency Disease mean in medicine?
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. This definition is taken from the National Library of Medicine's MeSH (Medical Subject Headings) 2026 release, which is the standard vocabulary used to index PubMed and most medical literature.
Is Pyruvate Dehydrogenase Complex Deficiency Disease known by any other names?
Yes. Pyruvate Dehydrogenase Complex Deficiency Disease is also referred to as PDH Deficiency, Deficiency, PDH, Ataxia, Intermittent, with Abnormal Pyruvate Metabolism, Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency in different clinical, research and patient-facing contexts. The MeSH descriptor groups all of these synonyms under a single canonical concept so research and records stay consistent.
Where does Pyruvate Dehydrogenase Complex Deficiency Disease sit in the medical classification?
Pyruvate Dehydrogenase Complex Deficiency Disease falls under the broader medical category "Diseases" in the MeSH hierarchy (tree numbers: C10.228.140.163.100.750, C10.597.606.360.455.875, C16.320.322.500.875). Browsing the related concepts on this page takes you to neighbouring topics in the same branch of medicine.
Where can I get a plain-language explanation of Pyruvate Dehydrogenase Complex Deficiency Disease?
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Source: NIH MeSH 2026 (D015325) — National Library of Medicine, public domain. View official MeSH record ↗