Diseases

Pyruvate Dehydrogenase Complex Deficiency Disease

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

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MeSH Record

Synonyms

22 entry terms
  • Ataxia, Intermittent, with Abnormal Pyruvate Metabolism
  • Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency
  • Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency
  • PDH Deficiency
  • PDHC Deficiency
  • PDHC Deficiency Disease
  • Pyruvate Decarboxylase Deficiency
  • Pyruvate Dehydrogenase Complex Deficiency
  • Pyruvate Dehydrogenase Deficiency
  • Deficiency, PDH
  • Deficiency, PDHC
  • Deficiency, Pyruvate Decarboxylase
  • Deficiency, Pyruvate Dehydrogenase
  • Ataxia with Lactic Acidosis
  • Ataxia with Lactic Acidosis I
  • Ataxia with Lactic Acidosis, Type I
  • Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease
  • Lactic Acidosis with Ataxia, Type I
  • Neonatal Pyruvate Dehydrogenase Complex Deficiency Disease
  • Pyruvate Dehydrogenase Complex Deficiency Disease, Juvenile
  • Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal
  • Type I Ataxia with Lactic Acidosis

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2000(1989); use PYRUVATE METABOLISM, INBORN ERRORS 1989-1990

MeSH Record

Previous Indexing

  • Pyruvate Dehydrogenase Complex/deficiency (1974-1988)

MeSH Hierarchy

Tree Numbers

  1. C10w.228w.140w.163.100.750w
  2. C10w.597.606.360w.455w.875w
  3. C16w.320w.322.500w.875w
  4. C16w.320w.400.525w.875w
  5. C16w.320w.565w.189.750w
  6. C16w.320w.565w.202w.810.766w
  7. C18.452w.132.100.750w
  8. C18.452w.648w.189.750w
  9. C18.452w.648w.202w.810.766w
  10. C18.452w.660w.710w

AMA Style

References

  1. National Library of Medicine. Pyruvate Dehydrogenase Complex Deficiency Disease. Medical Subject Headings (MeSH). 2026. Unique ID D015325. http://id.nlm.nih.gov/mesh/2026/D015325
  2. Pyruvate Dehydrogenase Complex Deficiency Disease. In: Wikipedia. https://en.wikipedia.org/wiki/Pyruvate_dehydrogenase_deficiency
  3. Pyruvate Dehydrogenase Complex Deficiency Disease. In: Wikidata. https://www.wikidata.org/wiki/Q7263801