Mucopolysaccharidosis

Definition:

Mucopolysaccharidosis (MPS) is a group of lysosomal storage diseases caused by deficient activity of enzymes that play important roles in the degradation of glycosaminoglycans. MPS2/ Hunter syndrome is an X-linked disease and the others are autosomal recessive diseases. The enzyme defects result in the accumulation of glycosaminoglycans such as heparan sulfate, dermatan sulfate, and keratan sulfate in many organs, as well as elevated metabolite levels in urine. The MPS diseases share many clinical features that include organomegaly, dysostosis multiplex, decreased growth, and recurrent infections. Most of MPS diseases do not affect the nervous system, and are considered as potentially amenable to enzyme replacement therapy.

References:

[1]. B Triggs-Raine, et al. Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX. Proc Natl Acad Sci U S A. 1999 May 25;96(11):6296-300. [Content Brief]

[2]. 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]

[3]. Doris Hofer, et al. GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. Hum Mutat. 2009 Aug;30(8):1214-21. [Content Brief]

[4]. Ed J Wraith, et al. Laronidase treatment of mucopolysaccharidosis I. BioDrugs. 2005;19(1):1-7. [Content Brief]

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

[6]. H S Scott, et al. Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. Hum Mutat. 1995;6(4):288-302. [Content Brief]

[7]. M J Valstar, et al. Sanfilippo syndrome: a mini-review. J Inherit Metab Dis. 2008 Apr;31(2):240-52. [Content Brief]

[8]. Roberto Giugliani, et al. Management guidelines for mucopolysaccharidosis VI. Pediatrics. 2007 Aug;120(2):405-18. [Content Brief]

[9]. S Al Sawaf, et al. Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed. J Inherit Metab Dis. 2008 Aug;31(4):473-80. [Content Brief]

[10]. Shunji Tomatsu, et al. Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). Hum Mutat. 2009 Apr;30(4):511-9. [Content Brief]

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