N-Acetylglucosamine 6-Sulfate Sulfatase Deficiency: A New Mucopolysaccharidosis

Publisher Summary Propositus is affected by a mucopolysaccharidos different from those already known and possibly caused by the deficiency of an enzyme normally participating in the degradation of keratan and heparan sulfate. In fact, the clinical and radiological features of the propositus represent an association of findings typical of diseases in which heparan sulfate or keratan sulfate accumulate. As acetylglucosamine 6-sulfate is the only functional group common to the repeating units of heparan and keratan sulfate, possibility that the enzyme in the prospositus could be a sulfatase specific for 6-sulfated substrates having the D-glucose configuration has been considered. This hypothesis requires the assumption that at least another sulfatase must exist, specific for 6-sulfated substrates having the D-galactose configuration, whose deificiency might be responsible for the accumulation of keratan sulfate and chondroitin 6-sulfate in Morquio disease. This chapter describes a study to verify these hypotheses in which N-acetyl-glucosamine 6-sulfate, N- acetylgalactosamine 6-sulfate, and galactose 6-sulfate using chlorosulfonic acid, according to the method of Suzuki and Strominger, were synthesized.