title: [Clinical, biochemical, morphological and electrophysiological studies of glycogenosis Type II in childhood with double deficiency of enzymes (author's transl)].
abstract: The clinical, biochemical, morphological and electrophysiological findings in a 13-month-old child, who died of glycogenosis type II, is presented. In addition to the deficiency of alpha-1,4-glucosidase, which is typical for the disease, a deficiency in hyaluronidase could be detected for the first time in the skeletal and heart muscles and in the liver. On the other hand, the beta-glucoronidase and beta-acetylglucosaminidase activity was highly increased. Deposits of a substance, most probably an acid mucopolysaccharide, which could be differentiated from glycogen by chromography and electronmicroscopy, could be detected in the muscle. A pathogenetical connection with the hyaluronidase defect is imminent.
mesh_terms: D005959:Glucosidases / Q000172:deficiency* / Q000378:metabolism; D005966:Glucuronidase / Q000378:metabolism; D006003:Glycogen / Q000032:analysis; D006008:Glycogen Storage Disease / Q000175:diagnosis*; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000201:enzymology / Q000473:pathology; D006025:Glycosaminoglycans / Q000378:metabolism; D006596:Hexosaminidases / Q000378:metabolism; D006801:Humans; D006821:Hyaluronoglucosaminidase / Q000172:deficiency* / Q000378:metabolism; D007223:Infant; D007668:Kidney / Q000201:enzymology; D008099:Liver / Q000201:enzymology; D009132:Muscles / Q000201:enzymology; D009210:Myofibrils / Q000648:ultrastructure; D013154:Spleen / Q000201:enzymology; D014617:Vacuoles / Q000032:analysis
chemical_list: D006025:Glycosaminoglycans; D006003:Glycogen; D005959:Glucosidases; D006596:Hexosaminidases; D005966:Glucuronidase; D006821:Hyaluronoglucosaminidase
vernacular_title: Klinische, biochemische, morphologische und elektrophysiologische Untersuchungen bei einer kindlichen Glykogenese Typ II mit zweifachem Enzymmangel