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citrulinémia

  1. Subject h.citrulinémia
    Subject h.Citrullinemia
    Entry termschoroba z deficitu arginínsukcinátsyntázy
    choroba z deficitu arginínsukcinátsyntetázy
    deficit ASS
    citrulinémia 1
    citrulinémia, typ 1
    citrulinémia klasická
    English X referencesASS Deficiency
    Argininosuccinate Synthase Deficiency Disease
    Argininosuccinate Synthetase Deficiency
    Argininosuccinic Acid Synthetase Deficiency
    Citrullinemia 1
    Citrullinemia Type 1
    Citrullinemia, Classic
    Deficiency Disease, Argininosuccinate Synthase
    Deficiency Disease, Argininosuccinic Acid Synthase
    Scope note in EnglishA group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)
    See also reference (FX) in Slovak arginínsukcinátsyntáza
    See also reference (FX) in English Argininosuccinate Synthase
    Links (3) - ARTICLES
    (1) - MeSH descriptor
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Number of the records: 1  

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