Glykogenóza s defektem amylo-1,6-glukosidázy (debranching enzyme); hlavním projevem je hepatomegalie v důsledku akumulace glykogenu. Generalizovaná forma se projeví též postižením svalů a myokardu (v různém stupni), u některých dětí se rozvíjí svalová dystrofie. Častý je sklon k pneumoniím. Prognóza bývá dobrá. (cit. Velký lékařský slovník online, 2017 http://lekarske.slovniky.cz/)

An 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.

Anotace

do not use /congen & do not coord with INFANT, NEWBORN, DISEASES

DUI

D006010 MeSH Prohlížeč

CUI

M0009471

Předchozí užití

Glucosidases/metabolism (1966-1974); Glycogenosis (1966-1974); Liver Diseases (1966-1974)

Historická pozn.

1991(1989); use GLYCOGEN STORAGE DISEASE 1989-1990; for GLYCOGENOSIS 3 use GLYCOGENOSIS 1975-1988

Veřejná pozn.

1991; see GLYCOGEN STORAGE DISEASE 1989-1990; for GLYCOGENOSIS 3 see GLYCOGENOSIS 1975-1988