type II mucopolysaccharidosis

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Hunter syndrome is an X-linked recessive mucopolysaccharidosis where the underlying defect is in iduronosulphate sulphatase.

This syndrome is caused by a new mutation in about a third of cases. Thus this syndrome is generally seen in males.

Typically a patient survives until later childhood. Occasionally there is survival into the fourth decade.

Last reviewed 01/2018