Biochemical variability of arylsulphatases‐A,‐B and‐C in cultured fibroblasts from patients with multiple sulphatase deficiency

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Abstract
Multiple sulphatase deficiency (MSD) in man is inherited as an autosomal recessive trait and associated with deficient activities of various sulphohydrolases. Cultured fibroblasts from seven different patients were assayed for arylsulphatases-A,-B and-C activities. On the basis of the results, they may be classified into three groups: I, deficient in all three arylsulphatases: II, deficient only in arylsulphatases-A and-C with half or near-normal arylsulphatase-B; electrophoretically, arylsulphatase-A activity bands are undetectable as in metachromatic leukodystrophy; III, same as in II except electrophoretically, the residual arylsulphatase-A is detectable as faint activity bands similar to those in pseudo arylsulphatase-A deficiency. In addition to the variability among different strains, within the same strain of MSD or normal cells, each enzyme activity increased several fold with increasing time in culture. These sources of biochemical variability among and within different cell strains have not been recognized before in the study of this apparently monogenic trait with multiple enzyme deficiencies. They may account for some of the discrepancies reported in the literature on arylsulphatase activities among cultured cells from different multiple sulphatase deficient patients.