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glykogenóza, typ III

  1. Subject h.glykogenóza, typ III
    Subject h.Glycogen Storage Disease Type III
    Entry termschoroba z ukladania glykogénu, typ III
    Coriho choroba
    deficit debranchera
    deficit odvetvujúceho enzýmu
    Forbesova choroba
    deficit enzýmu odvetvujúceho glykogén
    glykogenóza 3
    dextrinóza čiastočná
    English X referencesCori's Disease
    Debrancher Deficiency
    Forbes Disease
    Glycogen Debranching Enzyme Deficiency
    Glycogenosis 3
    Limit Dextrinosis
    Scope note in EnglishAn autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent.
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