Pompe's disease in Chinese and prenatal diagnosis by determination of alpha-glucosidase activity

J Inherit Metab Dis. 1987;10(1):11-7. doi: 10.1007/BF01799482.


We measured the activities of two major forms of alpha-glucosidase in lymphocytes and cultured fibroblasts from normal healthy controls and patients with Pompe's disease by using 4-methylumbelliferyl-alpha-D-glucoside as substrate. We found (1) enzyme activity of the pH 4 and pH 6 forms varied with age, and (2) patients with Pompe's disease showed very low activity of the pH 4 form and a low ratio of pH 4 to pH 6 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age Factors
  • Asians
  • Female
  • Fibroblasts / enzymology
  • Glycogen Storage Disease / enzymology*
  • Glycogen Storage Disease Type II / diagnosis
  • Glycogen Storage Disease Type II / enzymology*
  • Humans
  • Hydrogen-Ion Concentration
  • Infant
  • Lymphocytes / enzymology
  • Male
  • Pregnancy
  • Prenatal Diagnosis*
  • Taiwan
  • alpha-Glucosidases / analysis*


  • alpha-Glucosidases