A microassay for Gaucher's disease

Clin Chim Acta. 1975 May 1;60(3):391-6. doi: 10.1016/0009-8981(75)90083-2.


We report a new assay for the detection of individuals heterozygous and homozygous for Gaucher's disease which requires relatively small samples of whole blood (0.3 ml), and which determines 4-methylumbelliferyl-beta-D-glucopyranoside:beta-glucosidase activity under conditions optimal for the determination of leukocyte glucocerebroside:beta-glucocereborsidase activity. The procedure involves the preparation of a leukocyte pellet from 50 mul of whole blood by hypotonic lysis of erythrocytes, followed by assay of beta-glucosidase activity at pH 5.5 in the presence of sodium taurocholate (0.6 g/100 ml). The methods described may also prove to be useful for the diagnosis of other diseases of enzyme deficiency which use fluorogenic substrates and leukocytes as a source of enzyme, such as Fabry's disease, Tay-Sachs disease, and generalized gangliosidosis.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Diagnosis, Differential
  • Fabry Disease / diagnosis
  • Fabry Disease / enzymology
  • Gangliosides / metabolism
  • Gaucher Disease / diagnosis*
  • Gaucher Disease / enzymology
  • Glucosidases / blood*
  • Humans
  • Hymecromone
  • Leukocytes / enzymology
  • Lipid Metabolism, Inborn Errors / diagnosis
  • Lipid Metabolism, Inborn Errors / enzymology
  • Lipidoses / diagnosis
  • Lipidoses / enzymology
  • Methods
  • Microchemistry
  • Taurocholic Acid / pharmacology


  • Gangliosides
  • Hymecromone
  • Taurocholic Acid
  • Glucosidases