Metachromatic leukodystrophy caused by a partial cerebroside sulfatase defect

Publisher Website
Google Scholar
Abstract
A patient with neuropathy and myopathy since infancy but whose neuropathy was stable for a number of years showed a profound deficiency of arylsulfatase A in leukocytes and urine. Urine contained material that stained metachromatically and cochromatographed with cerebroside sulfate. Cultured fibroblasts contained about 10-20% of normal arylsulfatase A with properties identical to properties of normal fibroblast enzyme, except that it showed no cerebroside sulfatase activity. Growing fibroblasts in the cerebroside sulfate loading test had an attenuated rate of sulfatide hydrolysis. A reexamination of the cerebroside sulfatase reaction revealed that only limited hydrolysis occurred with low concentrations of taurodeoxycholate or cholate (type I activation), significant hydrolysis of the natural substrate did take place with high concentrations of cholate (type II activation). There may be a partial cerebroside sulfatase defect in this atypical form of metachromatic leukodystrophy.

This publication has 31 references indexed in Scilit: