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glykogenóza, typ III

  1. Record numberd006010
    Date06.06.2025
    TypeM - MESH
    Topical termglykogenóza, typ III
    Other termEnglish (Pseudonym) Cori's Disease
    English (Pseudonym) Debrancher Deficiency
    English (Pseudonym) Forbes Disease
    English (Pseudonym) Glycogen Debranching Enzyme Deficiency
    English (Pseudonym) Glycogenosis 3
    English (Pseudonym) Limit Dextrinosis
    Slovak (Pseudonym) choroba z ukladania glykogénu, typ III
    Slovak (Pseudonym) Coriho choroba
    Slovak (Pseudonym) deficit debranchera
    Slovak (Pseudonym) deficit odvetvujúceho enzýmu
    Slovak (Pseudonym) Forbesova choroba
    Slovak (Pseudonym) deficit enzýmu odvetvujúceho glykogén
    Slovak (Pseudonym) glykogenóza 3
    Slovak (Pseudonym) dextrinóza čiastočná
    See also(Later heading) systém enzýmový, rušiaci vetvenie glykogénu
    UDCC16.320.565.202.449.520C18.452.648.202.449.520
    NoteAn 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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