Pyruvate dehydrogenase complex deficiency disease (PDCDD) : Colligative - Practical Wisdom in Anesthesia, Surgery, and Medicine.

0

1

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.
www.nlm.nih.gov/cgi/mesh/...

Improve to correct grammar or spelling, but do not significantly alter the substance of the original author's text.

Cancel

Endorsed by , more...

Private

only

delete

own this

Sep 06, 2012