Mucopolysaccharidosis type III

Definition:

Mucopolysaccharidosis type III (MPS3) is an autosomal recessive lysosomal storage disorder caused by a defect in one of the four enzyme genes involved in glycosaminoglycan degradation. The defect results in the accumulation of heparan sulfate in many organs, as well as elevated metabolite levels in urine. Common signs and symptoms include mental retardation, behavior and aggression problems, and seizures.

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

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