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choroba z deficitu pyruvátkarboxylázy

  1. Subject h.choroba z deficitu pyruvátkarboxylázy
    Subject h.Pyruvate Carboxylase Deficiency Disease
    Entry termsdeficit pyruvátkarboxylázy
    ataxia s laktátovou acidózou, typ II
    acidóza laktátová s ataxiou, typ II
    English X referencesAtaxia with Lactic Acidosis, Type II
    Lactic Acidosis with Ataxia, Type II
    Scope note in EnglishAn autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)
    See also reference (FX) in Slovak pyruvátkarboxyláza
    See also reference (FX) in English Pyruvate Carboxylase
    Links (1) - MeSH descriptor
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