Metabolism of cerebroside sulphate and subcellular distribution of its metabolites in cultured skin fibroblasts derived from controls, metachromatic leukodystrophy, globoid cell leukodystrophy and farber disease

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The sphingolipidoses are generally understood to be lysosomal lipid storage diseases due to genetic enzymic defects of sphingolipid metabolism. However, the molecular mechanisms that lead to the clinical and pathological manifestations rernain largely obscure. Recent morphological and biochemical studies in neuronal storage diseases (Purpura and Suzuki, 1976) and animal models of gangliosidoses (Wood et al., 1985) suggested that altered membrane structure could be one of the causes of neuronal dysfunction. To understand the mechanism causing neurological dysfunctions in sphingolipidoses, clarification of the synthesis, translocation and insertion of sphingolipids in the different subcellular components in normal and pathological states is essential. This paper reports the metabolism of cerebroside sulphate (CS) and the subcellular distribution of its metabolite in cultured skin fibroblasts from normal control, metachromatic leukodystrophy (MLD; McKusick 25010), globoid cell leukodystrophy (GLD; McKusick 24520) and Farber disease (McKusick 22800).

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