Metachromatic Form of Diffuse Cerebral Sclerosis

Abstract

A STATISTICALLY significant decrease in sulfatase activity has been noted in autopsy tissues from four patients with metachromatic leukodystrophy (MLD) (sulfatide lipidosis).^1,19 Arylsulfatase activity was low both in histochemical tests^2,14 and in quantitative colorimetric analyses of brain, liver, and kidney. It would seem reasonable to relate a sulfatase deficiency in some way to the excess of cerebroside sulfates (sulfatides) found in the central nervous system and kidney in MLD.⁵ Enzyme studies on dead patients are limited by several important qualifications. These restrict the conclusions which can legitimately be drawn from postmortem studies alone even when the analyses are well controlled. Hence, the present study was designed to test a critical question—is sulfatase activity low in living MLD patients who are still in earlier stages of their disorder? Urines were selected for assay because sulfatase activity which is produced in the kidney normally enters the urine in detectable