Glycogenosis Type II - Infantile Form (Morbus Pompe) in the Czech and Slovak Population


Authors: S. Šťastná 1;  Peškovák., EllederM. 1 1;  Poupětováh. 1;  A. Hlavatá 2;  N. Mišovicová 3
Authors‘ workplace: Ústav dědičných metabolických poruch VFN a 1. LF UK, Praha1 přednosta prof. MUDr. M. Elleder, DrSc. II. detská klinika DFNsP, Bratislava2 přednosta prof. MUDr. L. Kovács, DrSc. Oddelenie klinickej genetiky, Martin 3
Published in: Čes-slov Pediat 2003; (7): 436-440.
Category:

Overview

Glycogenosis type II (morbus Pompe, glycogen storage disease type II, GSD II) is a generalized glycogenosiswith lysosomal storage of glycogen, caused by deficiency of acidic -1,4-glucosidase. There are two basic phenotypes.The predominating clinical sign in the classical infantile form is a hypertrophic cardiomyopathy, whereassubjects with classical juvenile and adult form suffer from myopathy. The prognosis is unfavourable. The patientsdie of cardiopulmonary failure, children with the infantile form usually during the first year of life, patients withthe juvenile and adult form mostly in the 2nd to 4th decade. The activity of muscular enzymes in serum is elevatedand there is demonstrable intralysosomal storage of glycogen in tissues. The heredity is of autosomal recessive typewith the incidence 1:40,000 to 1:100,000; the gene for the disease (GAA gene) is localized on chromosome 17q23.In the years 1973 - 2002 the authors diagnosed GSD II in 14 patients belonging to 11 families, six of them until1993 on the basis of histochemical and electron microscopic examination of tissues. The other 8 patients werediagnosed since 1994, four of them by detecting the deficiency of acidic -1,4-glucosidase in leukocytes and threein cultivated fibroblasts, two patients were diagnosed by histochemical and electron microscopic examination. In11 cases a classical infantile Pompe’s disease was established, the juvenile form occurred in three patients. Thecontribution is devoted to patients with classical infantile Pompe’s disease. Three female patients with the juvenileGSD II coming from two families are presently examined in detail. In the families of some patients with GSD II,molecular-genetic studies of the gene for GSD II (the GAA gene) are presently under way, the results being subjectto another publication.

Key words:
glycogenosis type II, infantile form (morbus Pompe) in the Czech and Slovak population

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Neonatology Paediatrics General practitioner for children and adolescents
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