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Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl

2 May 2019

Abstract excerpt

BACKGROUND: Hunter syndrome (mucopolysaccharidosis type II) is a recessive X-linked disorder due to mutations in the iduronate 2-sulfatase (IDS) gene. The IDS gene encodes a lysosomal enzyme, iduronate 2-sulfatase. The disease occurs almost exclusively in males. However, in the literature, 12 cases of the disease in females are known due to structural anomalies, a non-random chromosome X inactivation or...

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PMID: 31046699
DOI: 10.1186/s12881-019-0807-x

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