Mucopolysaccharidosis type VI

Definition:

Mucopolysaccharidosis type VI (MPS6) is an autosomal recessive lysosomal storage disorder caused by deficient activity of arylsulfatase B in glycosaminoglycan degradation. The enzyme defect results in the accumulation of dermatan sulfate and chondroitin 4-sulfate in many organs, as well as elevated metabolite levels in urine. This disorder is characterized by normal cognition, coarse faces and dysostosis multiplex, hepatosplenomegaly, and cardiac valve disease.

References:

[1]. Bryce A Heese, et al. Current strategies in the management of lysosomal storage diseases. Semin Pediatr Neurol. 2008 Sep;15(3):119-26. [Content Brief]

[2]. Graciana Diez-Roux, et al. Sulfatases and human disease. Annu Rev Genomics Hum Genet. 2005;6:355-79. [Content Brief]

[3]. Vassili Valayannopoulos, et al. Mucopolysaccharidosis VI. Orphanet J Rare Dis. 2010 Apr 12;5:5. [Content Brief]

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