A correlation of intracellular cerebroside sulfatase activity in fibroblasts with latency in metachromatic leukodystrophy

Abstract

Despite the absence of cerebroside sulfatase activity in cellfree preparations, fibroblasts in culture derived from patients with metachromatic leukodystrophy were capable of hydrolyzing exogenous cerebroside sulfate. Moreover, the degree of whole-cell sulfatase activity was directly correlated to the age of onset of clinical symptoms in the patients from whom the fibroblasts were derived. Intact fibroblasts from patients with the earliest manifesting form, late infantile metachromatic leukodystrophy, did not hydrolyze any cerebroside sulfate, while fibroblasts from patients with later manifesting forms hydrolyzed appreciable amounts of the sulfolipid.