Mucopolysaccharidosis IIID

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The GNS gene at 12q14.3 codes for N-acetylglucosamine-6-sulfatase.

Mutations cause mucopolysaccharidosis IIID (MPS IIID, Sanfilippo syndrome type D), explains up to 1/1,000,000 of the incidence of the mucopolysaccharidosis III phenotype. N-acetylglucosamine-6-sulfatase catalyses an essential step in the breakdown of heparan sulfate.

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