Sulfatases are found in lower and higher organisms. In higher organisms they are found in intracellular and extracellular spaces. Steroid sulfatase is distributed in a wide range of tissues throughout the body, enabling sulfated steroids synthesized in the adrenals and gonads to be desulfated following distribution through the circulation system. A large number of sulfatases are localized in the lysosome , an acidic digestive organelle found within the cell. Lysosomal sulfatases cleave a range of sulfated carbohydrates including sulfated glycosaminoglycans and glycolipids . Genetic defects in sulfatase activity can arise through mutations in individual sulfatases and result in certain lysosomal storage disorders with a spectrum of phenotypes ranging from defects in physical and intellectual development.
Some patients initially suspected of having Hunter syndrome may have multiple sulfatase deficiency in which deficiency of iduronate sulfatase dominates. Burk et al. (1981, 1984) reported 2 cases that had been mistakenly diagnosed as Hunter syndrome. In both, developmental delay dated from birth. Increased urinary mucopolysaccharides had a pattern different from that in mucopolysaccharidosis (heparan sulfate 39%, dermatan sulfate 21%, chondroitin sulfate C 40%). Abnormally broad great toes were found in both, and ichthyosis developed at an early age. Limitation in extension at the elbows and radiologic changes of dysostosis multiplex were suggestive of a mucopolysaccharidosis. The defect in this disorder may be similar to that in combined beta-galactosidase/neuraminidase deficiency; the defect may reside in a molecule necessary to protect the multiple sulfatases against excessive intralysosomal degradation and to assure their full hydrolytic capacity. If this is the explanation, then the activity of the molecule must not be limited to the intralysosomal site: 6 of the enzymes are lysosomal, whereas steroid sulfatase is microsomal.