LSDDB

Mucopolysaccharidoses Ⅵ

This type of MPS is also known as Maroteaux-Lamy syndrome (Stumpf et al., 1973). It is caused due to the deficient and defective activity of N- acetylgalactosamine 4-sulfatase or Aryl sulfatase B (ARSB). This defect results in the accumulation of its substrates dermatan sulfate within the lysosomes. The gene encoding ARSB is located at 5q14.1 (Modaressi et al., 1993).

Reference :
Shipley, J. M. et al. (1993) ‘Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes’, American Journal of Human Genetics, 52(3), pp. 517–526.