Multiple sulfatase deficiency (mucosulfatidosis): impaired degradation of labeled sulfated compounds in cultured skin fibroblasts in vivo.
Skin fibroblasts from a Japanese patient with multiple sulfatase deficiency (MSD) (Mucosulfatidosis) were studied with regard to metabolism of various sulfated compounds in vivo. Several sulfatase activities (arylsulfatases A, B and C, cholesterol sulfatase, heparin N-sulfatase) were deficient in skin fibroblasts grown in F-10 CO2 medium. The accumulation and degradation of 35S-sulfatide, 35S-mucopolysaccharides, 14C-cholesterol sulfate by MSD cells were also studied, comparing them to control, Hunter and metachromatic leukodystrophy cells. MSD fibroblasts accumulated and failed to degrade these compounds in vivo. Cholesterol sulfate was also incorporated into the control and pathological cells, and MSD cells were unable to hydrolyze cholesterol sulfate, though cholesterol sulfate is known to be hydrolyzed in the non-lysosomal subfraction. From these data it is clear that multiple enzyme deficiencies in MSD fibroblasts can be demonstrated in vivo.
D002478:Cells, Cultured; D005347:Fibroblasts / Q000201:enzymology / Q000378:metabolism / Q000648:ultrastructure*; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000473:pathology*; D013429:Sulfatases / Q000172:deficiency*; D013455:Sulfur / Q000378:metabolism
D013455:Sulfur; D013429:Sulfatases