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hyperlyzinémie

  1. Subject h.hyperlyzinémie
    Subject h.Hyperlysinemias
    Entry termschoroba z deficitu semialdehydu kyseliny alfa-aminoadipovej
    choroba z deficitu lyzín-alfa-ketoglutarátreduktázy
    choroba z deficitu sacharopíndehydrogenázy
    English X referencesAlpha-Aminoadipic Semialdehyde Deficiency Disease
    Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
    Saccharopine Dehydrogenase Deficiency Disease
    Scope note in EnglishA group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the SACCHAROPINE DEHYDROGENASES have been associated with hyperlysinemia. Clinical manifestations include mental retardation, recurrent emesis, hypotonia, lethargy, diarrhea, and developmental delay. (From Menkes, Textbook of Child Neurology, 5th ed, p56)
    See also reference (FX) in Slovak sacharopíndehydrogenázy
    See also reference (FX) in English Saccharopine Dehydrogenases
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Number of the records: 1  

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