Sanfilippo syndrome: A mini-review

  title={Sanfilippo syndrome: A mini-review},
  author={Marlies J. Valstar and George J. G. Ruijter and Otto P. van Diggelen and Ben J. H. M. Poorthuis and Frits A. Wijburg},
  journal={Journal of Inherited Metabolic Disease},
Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is an autosomal recessive disorder, caused by a deficiency in one of the four enzymes involved in the lysosomal degradation of the glycosaminoglycan heparan sulfate. Based on the enzyme deficiency, four different subtypes, MPS IIIA, B, C, and D, are recognized. The genes encoding these four enzymes have been characterized and various mutations have been reported. The probable diagnosis of all MPS III subtypes is based on increased… CONTINUE READING
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