Mucopolysaccharidosis type IV

Definition:

Mucopolysaccharidosis type IV (MPS4) is an autosomal recessive lysosomal storage disorder caused by a defect in one of the enzyme genes involved in glycosaminoglycan degradation. The defect results in the accumulation of keratan sulfate and chondroitin sulfate in many organs, as well as elevated metabolite levels in urine. Common signs and symptoms include normal cognition, coarse faces, and dysostosis multiplex.

References:

[1]. 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]

[2]. Thomas Kolter, et al. Sphingolipid metabolism diseases. Biochim Biophys Acta. 2006 Dec;1758(12):2057-79. [Content Brief]

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