Glycogen storage disease. Studies related to the mechanism of glycogenosome formation.
Glycogen storage diseases of type I, II, III, IV, V and the other muscle types, were examined electron microscopically, biochemically and physicochemically. Glycogenosomes (glycogen containing vacuoles) were found in the affected tissues of type II, type III variant of muscle glycogen storage disease, type IV and muscle type phosphorylase b kinase deficiency (disorder of the phosphorylase b kinase activation mechanism). The acid alpha-glucosidase activity was decreased only in the case of type II glycogen storage disease (Pompe's disease). The other types of glycogen storage disease showed no decrease in acid alpha-glucosidase activity. Moreover, one patient with type II disease also revealed a decrease in neutral alpha-glucosidase activity. In all cases where glycogenosomes were found, the extracted glycogen macromolecules showed some molecular abnormality or deviation when compared with normal native glycogen macromolecules.
D015061:1,4-alpha-Glucan Branching Enzyme / Q000378:metabolism; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005952:Glucose-6-Phosphatase / Q000378:metabolism; D006003:Glycogen / Q000378:metabolism; D006004:Glycogen Debranching Enzyme System / Q000378:metabolism; D006008:Glycogen Storage Disease / Q000145:classification / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D007223:Infant; D008099:Liver / Q000648:ultrastructure; D008112:Liver Glycogen / Q000378:metabolism; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009132:Muscles / Q000648:ultrastructure; D006005:Phosphorylases / Q000378:metabolism; D000520:alpha-Glucosidases / Q000378:metabolism
D006004:Glycogen Debranching Enzyme System; D008112:Liver Glycogen; D006003:Glycogen; D006005:Phosphorylases; D015061:1,4-alpha-Glucan Branching Enzyme; D005952:Glucose-6-Phosphatase; D000520:alpha-Glucosidases