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Gupta, A. and Uttarilli, Anusha and Dalal, Ashwin and Girisha, K.M. (2015) Hunter syndrome with late age of presentation: clinical description of a case and review of the literature. BMJ Case Reports, 2015. ISSN 1757-790X

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Abstract

Hunter syndrome is an X linked recessive mucopolysaccharidosis (type II) caused by the deficiency of iduronate 2-sulfatase. This in turn leads to the accumulation of glycosaminoglycans, dermatan and heparan sulfate. The intracellular and extracellular accumulation of these substances lead to multisystemic organ abnormality. It is a rare syndrome with a very low prevalence of 1.3:100 000 male live births. Usual presentation is in early childhood although milder variants have been documented to present at a later age. We present a rare case of Hunter syndrome in a 24-year-old male patient who presented with joint contractures and recent onset hoarseness of voice. X-rays were suggestive of dysostosis multiplex. Clinical diagnosis of Hunter syndrome was confirmed by enzyme assay and further by mutational analysis

Item Type: Article
Subjects: Genetics
Molecular Biology
Depositing User: Dr P Divakar
Date Deposited: 16 May 2015 19:10
Last Modified: 16 Jul 2019 18:50
URI: http://cdfd.sciencecentral.in/id/eprint/38

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