LSDDB

Mucopolysaccharidoses Ⅶ

This type is also called as Sly syndrome. It is caused due to the deficient activity of Beta-Glucuronidase enzyme. The gene GUSB encoding the enzyme is located at 7a11. Mutations in this gene cause the defective enzyme. As a result, respective substrates ie., glucuronic acid-containing glycosaminoglycans stay accumulated within the lysosomes causing cellular dysfunction (Shipley et al., 1993).

Reference :
Modaressi, S. et al. (1993) ‘Structure of the human arylsulfatase B gene’, Biological Chemistry Hoppe-Seyler, 374(1–6), pp. 327–336.
Stumpf, D. A. et al. (1973) ‘Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome): I. Sulfatase B Deficiency in Tissues’, American Journal of Diseases of Children, 126(6), pp. 747–755. doi: 10.1001/archpedi.1973.02110190597003.