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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Quantification of arylsulfatase B activity and diagnosis of Maroteaux-Lamy syndrome.

Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders, each with deficiency of an enzyme degrading glycosaminoglycans (GAG). To increase the ability to differentiate each of the disorders, the N-acetyl-galactosamine-4-sulfatase (arylsulfatase B) activity was measured in human peripheral leukocytes and skin fibroblasts. The assay employed p-nitrocatechol sulfate as an artificial substrate, and barium salt as an inhibitor to arylsulfatase A. Applying this method, a case of Maroteaux-Lamy syndrome (MPS type VI) was recognized in a six-year-old girl who had cloudy cornea, coarse-appearing face, mucopolysacchariduria, and white cell metachromasia. Her body height and mentality were normal. Arylsulfatase B activity in her skin fibroblasts was around 5% of normal. Diagnosis of MPS VI, especially in its milder form, depends on enzyme test.[1]

References

  1. Quantification of arylsulfatase B activity and diagnosis of Maroteaux-Lamy syndrome. Hwu, W.L., Wang, T.R. Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui (1991) [Pubmed]
 
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