Clinical Chemistry, Vol 13, 565-577, Copyright © 1967 by the American Association for Clinical Chemistry

Enzymatic Abnormalities in Diseases of Sphingolipid Metabolism

¹ Laboratory of Neurochemistry, National Institute of Neurological Diseases and Blindness, National Institutes of Health, U. S. Public health Service, Bethesda, Md. 20014.

Biochemical investigation employing labeled sphingolipids has become a useful technic for determining the metabolic lesions in the sphingolipidoses. With these procedures, specific enzymatic defects have been demonstrated in Gaucher's disease, Niemann-Pick disease, Fabry's disease, and in metachromatic leukodystrophy. As suitable substrates become available, this method will be useful for elucidating the nature of the lesions in Tay-Sachs disease and generalized gangliosidosis.

Enzymatic assays with labeled compounds performed on biopsy specimens from various tissues and white blood cell preparations have been helpful in establishing the diagnosis of the sphingolipidoses. Tissue cultures obtained from patients with Niemann-Pick disease show diminished sphingomyelin-cleaving enzyme as compared with control enzyme levels. Tests such as these should be of considerable diagnostic and prognostic usefulness, as well as being helpful adjuncts for the selection of proper therapeutic measures.