Diagnosis of Gaucher's Disease and Niemann-Pick Disease with Small Samples of Venous Blood

See allHide authors and affiliations

Science  06 Jan 1967:
Vol. 155, Issue 3758, pp. 86-88
DOI: 10.1126/science.155.3758.86


Enzymes which catalyze the hydrolysis of glucocerebroside and sphingomyelin have been demonstrated in preparations of washed human white blood cells. The level of activity of these respective enzymes is markedly decreased in leukocyte preparations obtained from patients with Gaucher's and Niemann-Pick diseases. Assay of these enzymes may be useful in the differential diagnosis of the sphingolipidoses.