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Pyruvate Dehydrogenase Complex Deficiency Disease

"Pyruvate Dehydrogenase Complex Deficiency Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

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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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This graph shows the total number of publications written about "Pyruvate Dehydrogenase Complex Deficiency Disease" by people in this website by year, and whether "Pyruvate Dehydrogenase Complex Deficiency Disease" was a major or minor topic of these publications.
Bar chart showing 2 publications over 2 distinct years, with a maximum of 1 publications in 2003 and 2011
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