Medical Definition of Hunter syndrome
A recessive mucopolysaccharidosis, also designated mucopolysaccharidosis II, caused by a deficiency of the enzyme iduronate sulphate sulphatase which breaks down dermatan sulphate and heparen sulphate and consequently, the mucopolysaccharides accumulate in the cells of the body and cause damage.
Symptoms are treated as they appear. Hunter syndrome is the most common of the mucopolysaccharide disorders.
In its severe form this X-linked disease presents with coarse facial features, short stature, skeletal dysplasia, retinitis pigmentosa, hepatosplenomegaly, neurologic deterioration, and death in childhood. It is often distinguished clinically from Hurler syndrome by the absence of corneal clouding. Milder forms allow for survival to adulthood with minimal neurologic problems. Patients have the two types of sulphates in their urine.
A variety of point mutations, splicing defects and deletions have been found in the gene, with full deletions causing the most severe disease. at present there is no cure.
Inheritance: sex-linked (X chromosome).
(29 Dec 1997)
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