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Mutation analysis in 20 patients with Hunter disease

✍ Scribed by Sandra Leistner Goldenfum; Elisabeth Young; Helen Michelakakis; S. Tsagarakis; Bryan Winchester

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 244 KB
Volume: 7
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1996)7:1<76::aid-humu14>3.0.co;2-p

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✦ Synopsis

Hunter disease (mucopolysaccharidosis type I1 or MPS 11) is an X-linked recessive lysosomal storage disease resulting from a deficiency of L-iduronate 2-sulfate-sulfatase (IDS) (EC 3.1.6.13), which is involved in the catabolism of glycosaminoglycans (GAGS) . Excessive accumulation in the tissues and excretion in the urine of dermatan and heparan sulphates ensues this enzymic defect and leads to the development of the characteristic phenotype of coarse facial features, skeletal abnormalities, hepatosplenomegaly, deafness, mental retardation, and often heart disease (Neufeld and Muenzer, 1989). Mild and se-

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