Type IV glycogenosis - a study of two cases.
Liver biopsy materials of two siblings with type IV glycogenosis were studied by light and electron microscopy. Biochemical analysis was added using autopsy material in one of the two cases. Two kinds of polysaccharides were noted not only in the cardiac muscle, skeletal muscles, smooth muscles and reticuloendothelial cells, but also in the neutrophils and platelets. One was glycogen and the other was similar to amylopectin. Ultrastructurally, a large amount of fibrils, 60 A in width, glycogen rosettes and glycogen granules were detected in those cells. Branching glycosyltransferase deficiency was biochemically confirmed in one case examined.
D000687:Amylopectin / Q000378:metabolism; D003594:Cytoplasmic Granules / Q000648:ultrastructure; D005260:Female; D006003:Glycogen / Q000378:metabolism; D006008:Glycogen Storage Disease / Q000473:pathology*; D006011:Glycogen Storage Disease Type IV / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007223:Infant; D008099:Liver / Q000378:metabolism / Q000473:pathology; D008198:Lymph Nodes / Q000473:pathology; D008297:Male; D009206:Myocardium / Q000473:pathology; D010375:Pedigree; D013154:Spleen / Q000473:pathology
D006003:Glycogen; D000687:Amylopectin