Počet záznamov: 1

choroba z deficitu pyruvátdehydrogenázového komplexu

Heslo	choroba z deficitu pyruvátdehydrogenázového komplexu
Heslo anglicky	Pyruvate Dehydrogenase Complex Deficiency Disease
Odkazy	deficit pyruvátdehydrogenázového komplexu ataxia s laktátovou acidózou, typ I acidóza laktátová s ataxiou, typ I
Angl. X odkazy	Ataxia with Lactic Acidosis, Type I Lactic Acidosis with Ataxia, Type I
Vysvetľujúca pozn. v angl.	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.
Pozri aj (FX) v slov.	Leighov syndróm komplex pyruvátdehydrogenázy
Pozri aj (FX) v angl.	Leigh Disease Pyruvate Dehydrogenase Complex
Odkazy	(2) - ČLÁNKY
	(2) - heslo MeSH

predmetové heslo

Počet záznamov: 1