Skip to main content
SpringerLink
Log in

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

  • Published:
Journal of Inherited Metabolic Disease

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Angelini, C. and Engel, A. G. Comparative study of acid maltase deficiency.Arch Neurol. (Chicago) 26 (1972) 344–349

    Google Scholar 

  • Fujimoto, A. and Fluharty, A. L. The change in the pH4 and pH6 forms of α-glucosidase in cultured amniotic fluid cells and its implication in prenatal diagnosis of Pompe's disease.Clin. Chim. Acta 90 (1978) 157–161

    Google Scholar 

  • Howell, R. R. and Williams, J. C. The glycogen storage diseases. In Stanbury, J. B., Wyngaarden, J. B., Frederickson, D. S., Goldstein, J. L. and Brown, M. S. (eds.)The Metabolic Basis of Inherited Disease (5th edn.), McGraw-Hill, New York, 1983, pp. 152–155

    Google Scholar 

  • Koster, J. F., Slee, R. G. and Hülsmann, W. C. The use of leukocytes as an aid in the diagnosis of a variant of glycogen storage disease type II (Pompe's disease).Clin. Chim. Acta 51 (1974) 319–325

    Google Scholar 

  • Ku, E. T. Glycogen storage disease type II. The 92nd Scientific Meeting of the Pediatric Association of the Republic of China (1983)

  • Lin, C. Y. Prenatal diagnosis of glycogen storage disease type II. The 100th Scientific Meeting of the Pediatric Association of the Republic of China (1984)

  • Lin, C. Y. A study of saturated very long chain fatty acid in skin fibroblast and plasma of adrenoleukodystrophy patients.Acta Paediatr. Sinica 26 (1985) 405–410

    Google Scholar 

  • Loonen, M. C. B.The Variability of Pompe's Disease (1st edn.), Grafische Verzorging, Davids Decor Alblasserdam, 1979, pp. 98

  • Loonen, M. C. B., Schran, A. W., Niermeijer, M. F., Korter, J. F., Busch, H. F. M., Martin, J. J., Brouwer-Kelder, B., Mekes, W., Slee, R. G. and Tager, J. M. Identification of heterozygotes for glycogenosis 2 (acid maltase deficiency).Clin. Genet. 19 (1981) 55–63

    Google Scholar 

  • Lowry, O. H., Rosebrough, N. J., Farr, A. L. and Randall, R. J. Protein measurement with the Folin phenol reagent.J. Biol. Chem. 193 (1951) 265–270

    Google Scholar 

  • Mehler, M. and DiMauro, S. Late-onset acid maltase deficiency.Arch. Neurol. (Chicago). 33 (1976) 692–695

    Google Scholar 

  • Nakamura, L. Glycogenoses.Jpn. J. Ped. (suppl.) 15 (1983) 764–767

    Google Scholar 

  • Niermeijer, M. F., Koster, J. R., Jahodova, M., Fernandes, J., Heukels-Dully, M. J. and Galjaard, H. Prenatal diagnosis of type II glycogenosis (Pompe's disease) using microchemical analysis.Pediatr. Res. 9 (1975) 498–503

    Google Scholar 

  • Nitowasky, H. M. and Grunfeld, A. Lysosomal α-glucosidase in type II glycogenosis: activity in leukocytes and cell cultures in relation to genotype.J. Lap. Clin. Med. 69 (1967) 472–484

    Google Scholar 

  • Pompe, J. C. Over idiopatische hypertrophie van het hart.Ned. T. Geneesk. 76 (1982) 304–311

    Google Scholar 

  • Reuser, A. J. J., Koster, J. F., Hoogeveen, A. and Galjaard, H. Biochemical, immunological, and cell genetic studies in glycogenosis type II.Am. J. Hum. Genet. 30 (1978) 132–143

    Google Scholar 

  • Rosner, B. Two-samplet-test for independent samples with unequal variance. InFundamentals of Biostatistics, Duxbury Press, Boston, Massachusetts, 1982, pp. 246–250

    Google Scholar 

  • Salafsky, I. S. and Nadler, H. L. Alpha-1,4 glucosidase activity in Pompe's disease.J. Pediatr. 79 (1971) 794–798

    Google Scholar 

  • Wang, T. R. Glycogen storage disease (Type I) — diagnosed with liver enzyme quantitation. The 90th Scientific Meeting of the Pediatric Association of the Republic of China (1982)

  • Wu, C. R. Diagnosis of Pompe's disease. The 13th Scientific Meeting of the China Medical Association (1985)

Download references

Author information

Authors and Affiliations

  1. Departments of Medical Research and Pediatrics, Veterans General Hospital, Shih-Pai, Taipei, Taiwan

    C. -Y. Lin, B. Hwang, K. -J. Hsiao & Y. -R. Jin

Authors
  1. C. -Y. Lin
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. B. Hwang
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. K. -J. Hsiao
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Y. -R. Jin
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Lin, C.Y., Hwang, B., Hsiao, K.J. et al. Pompe's disease in Chinese and prenatal diagnosis by determination of α-glucosidase activity. J Inherit Metab Dis 10, 11–17 (1987). https://doi.org/10.1007/BF01799482

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF01799482

Keywords

Search

Navigation