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hyperargininémia

  1. Subject h.hyperargininémia
    Subject h.Hyperargininemia
    Entry termsdeficit ARG1
    deficit arginázy
    argininémia
    choroba z deficitu arginázy
    English X referencesARG1 Deficiency
    Arginase Deficiency
    Arginase Deficiency Disease
    Argininemia
    Scope note in EnglishA rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme ARGINASE. Arginine is elevated in the blood and cerebrospinal fluid, and periodic HYPERAMMONEMIA may occur. Disease onset is usually in infancy or early childhood. Clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis. (From Hum Genet 1993 Mar;91(1):1-5; Menkes, Textbook of Child Neurology, 5th ed, p51)
    See also reference (FX) in Slovak argináza
    See also reference (FX) in English Arginase
    Links (3) - ARTICLES
    (1) - MeSH descriptor
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Number of the records: 1  

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