Disease relevance of Nag-6-S

• Mucopolysaccharidosis type IVA (MPS IVA) results from a genetic deficiency of N-acetylgalactosamine-6-sulfate (Gal-NAc6S) sulfatase [1].
• A sample from a patient with Morquio's disease showed a much higher ratio of the 6-sulfate to 4-sulfate than in other diseases, and N-acetylgalactosamine-6-sulfate was detected [2].

High impact information on Nag-6-S

• Further, we demonstrated that CSB is a hybrid consisting of approximately 40% CSA and 60% CSB and that CSC appears to be a polymer consisting essentially of glucuronic acid and N-acetylgalactosamine-6-sulfate [3].
• Mucopolysaccharidosis IVA (MPS IVA; OMIM#253000), a lysosomal storage disorder caused by a deficiency of N -acetylgalactosamine-6-sulfate sulfatase (GALNS), has variable clinical phenotypes [4].
• N-Acetylgalactosamine-6-sulfate (GalNAc-6-S) sulfatase activity was reduced to less than 1% of normal with a pH-optimum of 3.0 as expected for the severe form of Morquio disease [5].
• Increased levels of chondroitin sulfate N-acetylgalactosamine-6-sulfate sulfatase and sulfamidase and decreased enzymic levels of arylsulfatase A and B (EC 3.1.6.1) were found in leucocytes of DMC patients [6].

Anatomical context of Nag-6-S

• N-Acetylgalactosamine-6-sulfate (GalNAc-6-S) sulfatase (E.C. 3.1.6.-) was markedly reduced in his fibroblasts [7].
• Multiple assays of N-acetylgalactosamine-6-sulfate (GalNAc-6-SO4) sulfatase in leukocytes and cultured skin fibroblasts showed deficiency of this enzyme in the range found in the classical form of Morquio (Morquio A) syndrome [8].

Analytical, diagnostic and therapeutic context of Nag-6-S

• In contrast, after treatment with chondroitin B-lyase, no positive staining was observed with antibodies 3B3 and 1B5 which react to the unsaturated uronic acid coupled to N-acetylgalactosamine 6-sulfate and unsaturated uronic acid coupled to N-acetylgalactosamine, respectively [9].

References