Lactosylceramidase assays for diagnosis of globoid cell leukodystrophy and GM1-gangliosidosis.

Abstract

An assay procedure was developed for accurate estimation of lactosylceramidase II in the presence of relatively high activity of lactosylceramidase I. The procedure involves determination of lactosylceramide-cleaving activities under two different assay conditions, and lactosylceramidase II activity is calculated by the difference. Applicability of the procedure was evaluated with separated soluble fractions of the two beta-galactosidases from normal human brains, and with whole homogenates of gray and white matter, liver and cultured fibroblasts from control individuals and from patients with globoid cell leukodystrophy or GM1-gangliosidosis. The use of the lactosylceramidase I assay procedure developed by Wenger, D.A., Sattler, M., Clark, C. and McKelvey, H. ((1974) Clin. Chim. Acta 56, 199-206) and of the present procedure permits accurate diagnosis of both globoid cell leukodystrophy and GM1-gangliosidosis with one natural substrate, lactosylceramide, irrespective of the relative proportion of the two beta-galactosidases in the tissue.

• Authors: H Tanaka, K Suzuki
• Journal: Clinica chimica acta; international journal of clinical chemistry (Clin Chim Acta) Vol. 75 Issue 2 Pg. 267-74 (Mar 01 1977) ISSN: 0009-8981 [Print] Netherlands
• PMID: 403037 (Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Ceramides
• Isoenzymes
• G(M1) Ganglioside
• Galactosidases
• acid beta-galactosidase
• beta-Galactosidase
• Galactosylceramidase
• Lactose

Topics

• Brain (enzymology)
• Ceramides
• Clinical Enzyme Tests
• Fibroblasts (enzymology)
• G(M1) Ganglioside
• Galactosidases (metabolism)
• Galactosylceramidase (metabolism)
• Gangliosidoses (diagnosis)
• Humans
• Isoenzymes (metabolism)
• Kinetics
• Lactose
• Leukodystrophy, Globoid Cell (diagnosis)
• Liver (enzymology)
• beta-Galactosidase