Pompe's disease in Chinese and prenatal diagnosis by determination of α‐glucosidase activity

Abstract

We measured the activities of two major forms of α-glucosidase in lymphocytes and cultured fibroblasts from normal healthy controls and patients with Pompe's disease by using 4-methylumbelliferyl-α-d-glucoside as substrate. We found (1) enzyme activity of the pH4 and pH6 forms varied with age, and (2) patients with Pompe's disease showed very low activity of the pH4 form and a low ratio of pH4 to pH6 forms. We established a reference range and were also able to diagnose prenatally the homozygote and heterozygote forms of Pompe's disease which occurred in families of southern Chinese and aborigines in Taiwan. This enzyme biochemical study may be useful in anthropology.