Definitions for pyruvate dehydrogenase complex deficiency disease

This page provides all possible meanings and translations of the word pyruvate dehydrogenase complex deficiency disease

U.S. National Library of Medicine

  1. 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.

Translation

Find a translation for the pyruvate dehydrogenase complex deficiency disease definition in other languages:

Select another language:

Discuss these pyruvate dehydrogenase complex deficiency disease definitions with the community:


Citation

Use the citation below to add this definition to your bibliography:

Style:MLAChicagoAPA

"pyruvate dehydrogenase complex deficiency disease." Definitions.net. STANDS4 LLC, 2014. Web. 21 Oct. 2014. <http://www.definitions.net/definition/pyruvate dehydrogenase complex deficiency disease>.

Are we missing a good definition for pyruvate dehydrogenase complex deficiency disease?


The Web's Largest Resource for

Definitions & Translations


A Member Of The STANDS4 Network


Nearby & related entries:

Alternative searches for pyruvate dehydrogenase complex deficiency disease: