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  • Title: [Clinical, biochemical, morphological and electrophysiological studies of glycogenosis Type II in childhood with double deficiency of enzymes (author's transl)].
    Author: Lück R, Platt D, Lange RH, Kunze K.
    Journal: Z Kinderheilkd; 1975 Jul 01; 120(1):19-28. PubMed ID: 125955.
    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.
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