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Acronyms that contain the term pyruvate dehydrogenase complex deficiency disease
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What does pyruvate dehydrogenase complex deficiency disease mean?
- 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.
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"pyruvate dehydrogenase complex deficiency disease." Abbreviations.com. STANDS4 LLC, 2024. Web. 29 Mar. 2024. <https://www.abbreviations.com/pyruvate%20dehydrogenase%20complex%20deficiency%20disease>.
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