Various sulfatase activities in leukocytes and cultured skin fibroblasts from heterozygotes for the multiple sulfatase deficiency (mukosulfatidosis).
In heterozygotes for multiple sulfatase deficiency (MSD), several sulfatase activities including arylsulfatases A, B1, B2, and C, and cholesterol sulfatase were 40-50% of normals in cultured skin fibroblasts and 70-80% of normals in leukocytes. In MSD patients, these enzyme activities were deficient or reduced. DEAE-Sepharose column chromatographic patterns of 4-methylumbelliferyl sulfatases A, B1, and B2 in leukocytes and cultured skin fibroblasts from MSD patients and heterozygotes were also consistent with the above data. These data indicate that several sulfatase activities in heterozygotes of MSD exhibited intermediate activities as observed in the heterozygote state of other autosomal recessive inherited diseases.
D001192:Arylsulfatases / Q000378:metabolism; D002478:Cells, Cultured; D005347:Fibroblasts; D006579:Heterozygote; D006801:Humans; D006867:Hydrolases / Q000378:metabolism; D007962:Leukocytes / Q000201:enzymology*; D008661:Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics; D012867:Skin; D043266:Steryl-Sulfatase; D013429:Sulfatases / Q000172:deficiency* / Q000378:metabolism
D006867:Hydrolases; D013429:Sulfatases; D001192:Arylsulfatases; D043266:Steryl-Sulfatase; C022708:N-sulfoglucosamine sulfohydrolase