GLYCOGENOSIS TYPE-II (ACID MALTASE DEFICIENCY)

Glycogen storage disease type II (GSD II/glycogenosis type II/Pompe's disease/acid maltase deficiency) is caused by the deficiency of lysoso mal alpha-glucosidase resulting in lysosomal accumulation of glycogen. The disease is inherited as an autosomal recessive trait and is clini cally heterogeneous. Early and late onset phenotypes are distinguished . Insight in the molecular nature of the lysosomal alpha-glucosidase d eficiency and the underlying genetic defect has increased significantl y during the past decade. This minireview on GSD II was written at the occasion of The International Symposium on Glycolytic and Mitochondri al 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 alp ha-glucosidase gene and on prenatal diagnosis by chorionic villus samp ling. The genotype-phenotype correlation and the prospects for therapy are addressed. (C) 1995 John Wiley and Sons, Inc.