Acid Maltase Deficiency
Research from M.E. Mccready and co-researchers in the area of acid maltase deficiency described
Published in Genetics and Environmental Law Weekly, April 5th, 2008
According to a study from Ottawa, Canada, "Glycogen storage disease, type II (GSDII; Pompe disease; acid maltase deficiency) is an autosomal recessive disease caused by mutations of the GAA gene that lead to deficient acid a-glucosidase enzyme activity and accumulation of lysosomal glycogen. Although measurement of acid alpha-glucosidase enzyme activity in fibroblasts remains the gold standard for the diagnosis of GSDII, analysis of the GAA gene allows confirmation of clinical or biochemical diagnoses and permits predictive and prenatal testing of individuals at risk of developing GSDII."
"We have developed a clinical molecular test for the detection of GAA mutations...
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