Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy

R. L. Stevens, A. L. Fluharty, H. Kihara, M. M. Kaback, L. J. Shapiro, B. Marsh, K. Sandhoff, G. Fischer

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    117 Scopus citations


    Two siblings of consanguineous parents had presented with a variety of findings indicative of juvenile metachromatic leukodystrophy (MLD). However, instead of the expected profound deficiency of arylsulfatase A (ARS A), their enzyme levels were about half-normal, and enzyme from fibroblasts had properties identical with the properties of enzyme from normal fibroblasts. Nevertheless, the hydrolysis of cerebroside sulfate by growing fibroblasts was markedly attenuated. Supplementation of the fibroblasts with cerebroside sulfatase activator normalized the response in the loading test. These results imply that the fibroblasts, and by extension the patients, are deficient in activator. Although the defective catabolism of cerebroside sulfate and the clinical manifestations in those patients mimic MLD, the molecular basis is distinct from the classical forms of the disorder.

    Original languageEnglish
    Pages (from-to)900-906
    Number of pages7
    JournalAmerican journal of human genetics
    Issue number6
    StatePublished - 1981


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