Abstract
In two cases of metchromatic leucodystrophy associated with mucopolysaccharidos is the biochemical defect has been investigated.
In the organs there was an accumulation of sulfatid, mucopolysaccharide (MPS) and cholesterolsulfate. This accumulation of different sulfate containing compounds was correlated with a deficiency of the activity, of several sulfatases: arylsulfatase A, B, C, cholesterolsulfate and dehydroepiandrosterone sulfatase. Mixing experiment did not show an inhibitory effect of the affected tissues. Isoelectric focusing column electrophoresis showed an abnormal isoelectric point of the arylsulfatase B. Both fibroblast lines demonstrated faulty degradation of 35SO4-MPS. Mixing experiments between the patients fibroblasts and cells from different types of MPS-oses successfully corrected the faulty 35SO4-MPS metabolism except for Hunter and Sanfilippo A4 fibroblasts, both disorders are suspected to be due to a single MPS-sulfatase deficiency. This suggests that MPS-sulfatases are deficient in mucosulfatidosis patients also. Possible explanations of these multiple enzyme deficiencies will be discussed.
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Wiesmann, U., Eto, Y., Carson, J. et al. MUCOSULFATIDOSIS: MULTIPLE SULFATASE DEFICIENCY. Pediatr Res 8, 134 (1974). https://doi.org/10.1203/00006450-197402000-00050
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DOI: https://doi.org/10.1203/00006450-197402000-00050