Mucopolysaccharidosis IIIA

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The SGSH gene at 17q25.3 codes for N-sulphoglucosamine sulphohydrolase.

Mutations cause mucopolysaccharidosis IIIA (MPS IIIA, Sanfilippo syndrome type A), the commonest form explaining up to 1/50,000 incidence of the mucopolysaccharidosis III phenotype. N-sulphoglucosamine sulphohydrolase catalyses an essential step in the breakdown of heparan sulfate.

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