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choroba z deficitu pyruvátdehydrogenázového komplexu

Subject h.	choroba z deficitu pyruvátdehydrogenázového komplexu
Subject h.	Pyruvate Dehydrogenase Complex Deficiency Disease
Entry terms	deficit pyruvátdehydrogenázového komplexu ataxia s laktátovou acidózou, typ I acidóza laktátová s ataxiou, typ I
English X references	Ataxia with Lactic Acidosis, Type I Lactic Acidosis with Ataxia, Type I
Scope note in English	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.
See also reference (FX) in Slovak	Leighov syndróm komplex pyruvátdehydrogenázy
See also reference (FX) in English	Leigh Disease Pyruvate Dehydrogenase Complex
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