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A sensitive semi-automated kinetic assay of α-D-glucosidase for the prenatal diagnosis of type 2 glycogenosis (Pompe's disease)

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Journal of Inherited Metabolic Disease

Abstract

Prenatal diagnosis of type 2 glycogenosis (Pompe's disease) has been done on cultured amniotic fluid cells, using a semi-automated fluorimetric kinetic assay for α-D-glucosidase with 4-methylumbelliferyl-α-D-glucoside as substrate. The activity of the enzyme was related to that ofβ-D-galactosidase, and found to be absent in cells from an affected fetus. The diagnosis was confirmed in fetal liver, where the same assay was used to show absence ofα-D-glucosidase activity with normalβ-D-galactosidase activity, and where increased glycogen deposition was demonstrated histologically. This type of assay is generally applicable to lysosomal enzymes, and to other fluorigenic enzyme reactions.

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References

  • Butterworth, J., Sutherland, G. R., Broadhead, D. M. and Bain, A. D. (1973). Lysosomal enzymes of cultured amniotic fluid cells.Clin. Chim. Acta,44, 295

    PubMed  Google Scholar 

  • Edwards, D. J. and Blau, K. (1971). A semi-automated kinetic assay of phenylalanine 4-hydroxylase.Biochem. Med.,5, 457

    Google Scholar 

  • Fensom, A. H., Benson, P. F., Blunt, S., Brown, S. P. and Coltart, T. M. (1976). Amniotic cell 4-methylumbelliferyl-α-glucosidase activity for prenatal diagnosis of Pompe's disese.J. Med. Genet.,13, 148

    PubMed  Google Scholar 

  • Fujimoto, A., Fluharty, A. L., Stevens, R. L., Kihara, H. and Wilson, M. G. (1976). Two alpha-glucosidases in cultured amniotic fluid cells and their differentiation in the prenatal diagnosis of Pompe's disease.Clin. Chim. Acta,68, 177

    PubMed  Google Scholar 

  • Galjaard, H., Mekes, M., Josselin de Jongh, J. E. and Niermeijer, M. F. (1973). A method for rapid prenatal diagnosis of glycogenosis II (Pompe's disease).Clin. Chim. Acta,49, 361

    PubMed  Google Scholar 

  • Nadler, H. L. and Messina, A. M. (1969). In-utero detection of type II glycogenosis (Pompe's disease).Lancet,ii, 1277

    Google Scholar 

  • Nadler, H. L., Bigley, R. H. and Hug, G. (1970). Prenatal detection of Pompe's disease.Lancet,ii, 369

    Google Scholar 

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

    PubMed  Google Scholar 

  • Schaub, J., Osang, M., von Bassewitz, D. B., Grote, W., Terinde, R., Lombeck, I. and Bremer, H. J. (1974). Pränatale Diagnose einer Glykogenose Typ II (Pompe) mit nachfolgender Interruptio.Dtsch. Med. Wochenschr.,99, 2219

    PubMed  Google Scholar 

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Authors and Affiliations

  1. Prenatal Biochemistry Unit, Department of Chemical Pathology, Bernhard Baron Memorial Research Laboratories, Queen Charlotte's Maternity Hospital, W6 0XG, London, UK

    K. Blau

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  1. K. Blau
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Blau, K. A sensitive semi-automated kinetic assay of α-D-glucosidase for the prenatal diagnosis of type 2 glycogenosis (Pompe's disease). J Inherit Metab Dis 1, 85–88 (1978). https://doi.org/10.1007/BF01805678

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  • DOI: https://doi.org/10.1007/BF01805678

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