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choroba z deficitu karbamoylfosfát syntázy I

  1. Subject h.choroba z deficitu karbamoylfosfát syntázy I
    Subject h.Carbamoyl-Phosphate Synthase I Deficiency Disease
    Entry termsdeficit CPS 1
    choroba z nedostatku karbamylfosfátsyntetázy I
    choroba z deficitu karbamoylfosfátsyntetázy I
    deficit karbamoyl-fosfát syntetázy (CPS)
    choroba z deficitu karbamoylfosfát syntetázy I (deficit ornitín karbamoylfosfátu)
    hyperamonémia spôsobená deficitom karbamoyl-fosfát syntázy I
    hyperamoniémia spôsobená deficitom karbamoyl-fosfát syntázy I
    English X referencesCPS 1 Deficiency
    Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)
    Carbamyl-Phosphate Synthetase I Deficiency Disease
    Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
    Scope note in EnglishA urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)
    See also reference (FX) in Slovak karbamoylfosfát syntáza (amoniak)
    See also reference (FX) in English Carbamoyl-Phosphate Synthase (Ammonia)
    Links (3) - ARTICLES
    (1) - MeSH descriptor
    subject heading

    subject heading

Number of the records: 1  

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