Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, McKusick #253200) is a lysosomal storage disorder that is caused by a deficiency in the lysosomal exohydrolase N-acetylgalactosamine-4-sulphatase (4-sulphatase, EC 3.1.6.1). We report a patient with no obvious clinical signs of MPS VI that has 5% of normal 4-sulphatase catalytic capacity. This patient represents an index case for t...

In continued efforts to develop enzymatic assays for lysosomal storage diseases appropriate for newborn screening laboratories we have synthesized novel and specific enzyme substrates for Maroteaux-Lamy (MPS VI) and Morquio A (MPS IVA) diseases. The sulfated monosaccharide derivatives were found to be converted to product by the respective enzyme in blood from healthy patients but not by blood ...

Acromesomelic dwarfism is a skeletal dysplasia characterized by disproportionate short stature with predominant involvement of the forearms and hands. Maroteaux et al.{l) first described this form of dwarfism. Over 36 cases have been described till date(2), Of them 3 families consisting of two siblings with definite diagnosis of acromesomelic dwarfism are described(3). Here, we report an Indian...

Mucopolysaccharidosis type VI or Maroteaux-Lamy syndrome is an autosomal recessive lysosomal storage disorder caused by deficiency of arylsulfatase B (ARS-B) enzyme activity. It results in mild to severe multi-organ system failure from accumulation of undigested glycosaminoglycans (GAGs); dermatan sulfate and chondroitin-4-sulfate. We have developed a single-step enzyme assay using a fluorescen...

The kinetic parameters (Km and V) of human arylsulphatase B (4-sulpho-N-acetylgalactosamine sulphatase) activity in cultured skin fibroblasts were determined with a variety of substrates matching structural aspects of the physiological substrates in vivo chondroitin 4-sulphate and dermatan sulphate. More structurally complex substrates, in which several aspects of the aglycone structure of the ...

Correspondence should be addressed to: 15 Dr. S.Q. June Liu 16 Department of Cell Biology and Anatomy 17 Louisiana State University Health Sciences Center 18 New Orleans, LA 70112 19 E-mail: [email protected] 20 21 Phone #: (504)-568-2258 22 Fax #: (504) 568-2169 23 24 Acknowledgements: This work was supported by National Science Foundation Grant IBN25 0344559 and National Institutes of Health Gr...