
doi: 10.1007/bf00287632
pmid: 6144627
Several cases of metachromatic leukodystrophy (MLD) have been described with normal or near normal activities of arylsulfatase A (cerebroside sulfatase). However, the ability of intact cultured fibroblasts to hydrolyze cerebroside sulfate was impaired. Since the impairment was corrected by cerebroside sulfatase activator, a deficiency of activator was implied. In the absence of direct demonstration of deficiency, other types of evidence were needed to support the premise that the genetic defect was not associated with the arylsulfatase A locus as in classical MLD. Therefore, somatic cell hybrids of activator deficiency and MLD fibroblasts were analyzed. Complementation was indicated by enhanced hydrolysis of cerebroside sulfate, supporting the view that cerebroside sulfatase activator deficiency and MLD are nonallelic.
Enzyme Activation, Genetic Complementation Test, Humans, Leukodystrophy, Metachromatic, Fibroblasts, Hybrid Cells, Sulfatases, Cerebroside-Sulfatase
Enzyme Activation, Genetic Complementation Test, Humans, Leukodystrophy, Metachromatic, Fibroblasts, Hybrid Cells, Sulfatases, Cerebroside-Sulfatase
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