Two new missense mutations of GAA in late onset glycogen storage disease type II.

Glycogen storage disease type II (GSD II) is an autosomal recessive disorder resulting from a deficiency of acid alpha-glucosidase (GAA, or acid maltase). In this study, we aimed to characterize phenotype and genotype in three patients with late onset GSD II in Korea. Clinically, all of our patients showed typical features of late onset GSD II with the reduced GAA enzyme activities. The respiratory difficulty preceding ambulatory failure seems to be one of the most remarkable clinical features characterizing late onset GSD II. By direct sequence analysis of PCR-amplified genomic DNA obtained from patients' skeletal muscle or peripheral leukocytes, we identified four missense mutations. Two of them (p.266Pro>Ser and p.439Met>Lys) were new missense mutations causing late onset GSD II, which had not been reported elsewhere before. One of them (p.439Met>Lys) was found in two alleles from each patient, suggesting it could be a recurrent mutation among Korean population.