Journal of Inherited Metabolic Disease

, Volume 1, Issue 3, pp 115–118 | Cite as

The use of natural and artificial substrates in the prenatal diagnosis of Krabbe's disease

  • G. T. N. Besley
Article

Abstract

Krabbe's disease was diagnosed prenatally using cultured amniotic fluid cells and the diagnosis confirmed using fetal brain, liver and cultured fetal skin fibroblasts. The enzyme defect was demonstrated by assay of galactocerebrosidase and lactocerebrosidase I, and by hydrolysis of the chromogenic analogue, 2-hexadecanoylamino-4-nitrophenyl-β-D-galactopyranoside. The relative merits of the three diagnostic methods are discussed.

Keywords

Public Health Internal Medicine Metabolic Disease Diagnostic Method Amniotic Fluid 

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References

  1. Besley, G. T. N. and Bain, A. D. (1976). Krabbe's globoid cell leucodystrophy. Studies on galactosylceramideβ-galactosidase and non-specificβ-galactosidase of leucocytes, cultured skin fibroblasts and amniotic fluid cells.J. Med. Genet.,13, 195PubMedGoogle Scholar
  2. Besley, G. T. N. and Broadhead, D. M. (1976). Studies on humanN-acetyl-β-D-hexosaminidase C separated from neonatal brain.Biochem. J.,155, 205PubMedGoogle Scholar
  3. Gal, A. E., Brady, R. O., Hibbert, S. R. and Pentchev, P. G. (1975). A practical chromogenic procedure for the detection of homozygotes and heterozygous carriers in Niemann-Pick disease.N. Engl. J. Med.,293, 632PubMedGoogle Scholar
  4. Gal, A. E., Brady, R. O., Pentchev, P. G., Furbish, F. S., Suzuki, K., Tanaka, H. and Schneider, E. L. (1977). A practical chromogenic procedure for the diagnosis of Krabbe's disease.Clin. Chim. Acta,77, 53PubMedGoogle Scholar
  5. Harzer, K., Benz, H. U., Knörr-Gärtner, H., Jonathan, W. D. and Knörr, K. (1976). Pränatale diagnose der globoidzell-leukodystrophie (Morbus Krabbe).Dtsch. Med. Wochenschr.,101, 821PubMedGoogle Scholar
  6. Harzer, K. (1977). Prenatal diagnosis of globoid cell leukodystrophy (Krabbe's disease).Hum. Genet.,35, 193PubMedGoogle Scholar
  7. Lowry, O. H., Rosebrough, N. J., Farr, A. L. and Randall, R. J. (1951). Protein measurement with the Folin phenol reagent.J. Biol. Chem.,193, 265PubMedGoogle Scholar
  8. Radin, N. S., Hof, L., Bradley, R. M. and Brady, R. O. (1969). Lactosylceramide galactosidase: comparison with other sphingolipid hydrolases in developing rat brain.Brain Res.,14, 497PubMedGoogle Scholar
  9. Suzuki, Y. and Suzuki, K. (1971). Krabbe's globoid cell leucodystrophy. Deficiency of galactocerebrosidase in serum, leucocytes and fibroblasts.Science,171, 73PubMedGoogle Scholar
  10. Suzuki, K., Schneider, E. L. and Epstein, C. J. (1971).In utero diagnosis of globoid cell leucodystrophy (Krabbe's disease).Biochem. Biophys. Res. Commun.,45, 1363PubMedGoogle Scholar
  11. Tanaka, H. and Suzuki, K. (1975). Lactosylceramideβ-galactosidase in human sphingolipidoses.J. Biol. Chem.,250, 2324PubMedGoogle Scholar
  12. Wenger, D. A., Sattler, M., Clark, C. and McKelvey, H. (1974). An improved method for the identification of patients and carriers of Krabbe's disease.Clin. Chim. Acta,56, 199PubMedGoogle Scholar
  13. Young, E., Wilcox, P., Whitfield, A. E. and Patrick, A. D. (1975). Variability of acid hydrolase activities in cultured skin fibroblasts and amniotic fluid cells.J. Med. Genet.,12, 224PubMedGoogle Scholar

Copyright information

© MTP Press Limited 1978

Authors and Affiliations

  • G. T. N. Besley
    • 1
  1. 1.Department of PathologyRoyal Hospital for Sick ChildrenEdinburghScotland

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