American Journal of Clinical Nutrition, Vol 9, 103-111, Copyright © 1961 by The American Society for Clinical Nutrition, Inc.

Studies on Enzyme Alterations in the Infantile Sphingolipidoses

Correlation with Pathologic Changes

¹ From the Isaac Albert Research Institute, Jewish Chronic Disease Hospital and the Departments of Pathology, State University of New York, Downstate Medical Center, Brooklyn, New York, and the Albert Einstein College of Medicine, Bronx, New York

It is presumed that genetically determined enzymatic defects form the basis of all the infantile sphingolipidoses. In infantile amaurotic family idiocy the precise confinement of the storage process to one type of cell and the observation that greater acceleration of the dystrophic process occurs in nerve cells of phylogenetically recent development further indicates that the enzymatic abnormality in this disturbance is unitary. The demonstration of several enzymatic variations in serum, cerebrospinal fluid and tissues does not justify the designation of any one of these biochemical abnormalities as the basic anomaly of this disorder. Each of these enzymatic abnormalities can be considered reflections of nonspecific neurocytolysis, secondary muscle atrophy or massive reactive gliosis.

The sustained increase of cerebrospinal fluid aldolase, phosphohexose isomerase and glutamic oxaloacetic-transaminase are, in our experience, unique to infantile amaurotic family idiocy and Niemann-Pick disease. The sphingolipidoses are the only neurologic diseases of infancy characterized by progressive, rapid and irreversible implication of all nerve cells. Infantile amaurotic family iodocy can be distinguished from Niemann-Pick disease by the differential elevation of the dehydrogenating enzymes in the former. When the rate of neurocytolysis is even more indolent, as in juvenile amaurotic idiocy, no enzymatic elevations can be demonstrated.