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choroba z deficitu pyruvátdehydrogenázového komplexu

  1. Subject h.choroba z deficitu pyruvátdehydrogenázového komplexu
    Subject h.Pyruvate Dehydrogenase Complex Deficiency Disease
    Entry termsdeficit pyruvátdehydrogenázového komplexu
    ataxia s laktátovou acidózou, typ I
    acidóza laktátová s ataxiou, typ I
    English X referencesAtaxia with Lactic Acidosis, Type I
    Lactic Acidosis with Ataxia, Type I
    Scope note in EnglishAn 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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    (2) - MeSH descriptor
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