Study of alpha-D-glucosidase activity in patients with Pompe's disease
Lin, C.Y.; Hwang, B.; Hsiao, K.J.; Jin, Y.R.
Journal of the Formosan Medical Association 85(8): 766-770
1986
ISSN/ISBN: 0371-7682 PMID: 3540186 Document Number: 285222
Activities of 2 major forms of .alpha.-glucosidase in muscle cells, lymphocytes and cultured fibroblasts of patients with Pompe's disease and normal healthy controls were measured by using 4-methylumbelliferyl-.alpha.-D-glucoside as the substrate. The lowest enzyme activity was in muscle cells and the highest in cultured fibroblast. However, even in the muscle cells, there was no overlap between patients with Pompe's disease and the controls. These results indicate that enzyme determination from patient's muscle cells, lymphocytes, cultured fibroblasts is effective in the diagnosis and genetic counselling for Pompe's disease.