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Glycogenosis type II (acid maltase deficiency)
Author(s) -
Reuser A. J. J.,
Kroos M. A.,
Hermans M. M. P.,
Bijvoet A. G. A.,
Verbeet M. P.,
Van Diggelen O. P.,
Kleijer W. J.,
Van Der Ploeg A. T.
Publication year - 1995
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880181414
Subject(s) - glycogen storage disease type ii , glycogen storage disease , lysosomal storage disease , phenotype , chorionic villus sampling , autosomal recessive trait , biology , glucosidases , genotype , endocrinology , maltase , genetics , medicine , gene , disease , glycogen , prenatal diagnosis , enzyme replacement therapy , biochemistry , enzyme , pregnancy , fetus
Glycogen storage disease type II (GSD II/glycogenosis type II/Pompe's disease/acid maltase deficiency) is caused by the deficiency of lysosomal α‐glucosidase resulting in lysosomal accumulation of glycogen. The disease is inherited as an autosomal recessive trait and is clinically heterogeneous. Early and late onset phenotypes are distinguished. Insight in the molecular nature of the lysosomal α‐glucosidase deficiency and the underlying genetic defect has increased significantly during the past decade. This minireview on GSD II was written at the occasion of The International Symposium on Glycolytic and Mitochondrial Defects in Muscle and Nerve, held in Osaka, Japan, July 1994. It is an update of current literature, but also includes original data from the collaborating authors on mutations occurring in the lysosomal α‐glucosidase gene and on prenatal diagnosis by chorionic villus sampling. The genotype–phenotype correlation and the prospects for therapy are addressed. © 1995 John Wiley & Sons, Inc.