Hypothermic reaction after infection in an infant with pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase complex (PDC) deficiency is a rare genetic mitochondrial disorder that impairs the activity of PDC, the rate-limiting enzyme in aerobic glucose oxidation, thereby being integral to cellular energetics.1 Defects in PCD activity may also decrease the availability of acetyl-CoA for the tricarboxylic acid cycle, resulting in lactic acidosis and cellular energy failure, which is indicated by progressive neurological and neuromuscular deterioration.2 Reviews of molecular genetics reported that most patients with PDC deficiency lack the PDC-E1 alpha component, encoded by the PDHA1 gene located on the Xp22.1 –22.2 chromosome.
Source: Pediatrics and Neonatology - Category: Perinatology & Neonatology Authors: Hideaki Yagasaki, Tetsuo Ohyama, Hiromune Narusawa, Takaya Nakane Tags: Letter to the Editor Source Type: research