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<article xlink="http://www.w3.org/1999/xlink" dtd-version="1.0" article-type="healthcare" lang="en"><front><journal-meta><journal-id journal-id-type="publisher">IJCRR</journal-id><journal-id journal-id-type="nlm-ta">I Journ Cur Res Re</journal-id><journal-title-group><journal-title>International Journal of Current Research and Review</journal-title><abbrev-journal-title abbrev-type="pubmed">I Journ Cur Res Re</abbrev-journal-title></journal-title-group><issn pub-type="ppub">2231-2196</issn><issn pub-type="opub">0975-5241</issn><publisher><publisher-name>Radiance Research Academy</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="publisher-id">1237</article-id><article-id pub-id-type="doi"/><article-id pub-id-type="doi-url"/><article-categories><subj-group subj-group-type="heading"><subject>Healthcare</subject></subj-group></article-categories><title-group><article-title>A CASE OF HURLER SCHEIE SYNDROME, ATTENUATED FORM OF MUCOPOLYSACCHARIDOSIS TYPE I&#13;
</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Sinharay</surname><given-names>Manali</given-names></name></contrib><contrib contrib-type="author"><name><surname>Mukhopadhyay</surname><given-names>Mousumi</given-names></name></contrib></contrib-group><pub-date pub-type="ppub"><day>29</day><month>07</month><year>2013</year></pub-date><volume>)</volume><issue/><fpage>49</fpage><lpage>54</lpage><permissions><copyright-statement>This article is copyright of Popeye Publishing, 2009</copyright-statement><copyright-year>2009</copyright-year><license license-type="open-access" href="http://creativecommons.org/licenses/by/4.0/"><license-p>This is an open-access article distributed under the terms of the Creative Commons Attribution (CC BY 4.0) Licence. You may share and adapt the material, but must give appropriate credit to the source, provide a link to the licence, and indicate if changes were made.</license-p></license></permissions><abstract><p>Mucopolysaccharidosis type __ampersandsignIota; or MPS __ampersandsignIota; is an autosomal recessive inborn error of metabolism due to deficiency of __ampersandsignalpha;-L-iduronidase enzyme activity and is characterized by accumulation of incompletely degraded Glycosaminoglycans that generally lead to impairment of organ and body functions. In this report a three year old child with history of normal birth, delayed growth, noisy breathing specially during sleep and bulging abdomen noticed recently was examined and investigated thoroughly to reveal corneal clouding, coarse facial features, hepatosplenomegaly, multiple radiographic evidence of dysostosis multiplex, manifestations of mild valvular heart disease as per echocardiography, and abnormally increased excretion of Glycosaminoglycans in urine without any neurological abnormalities. The history, clinical examination and laboratory investigations confirmed the child to be suffering from attenuated form of Mucopolysaccharidosis type __ampersandsignIota; (Hurler Scheie syndrome).&#13;
</p></abstract><kwd-group><kwd>?-L-iduronidase</kwd><kwd> Glycosaminoglycans</kwd><kwd> Hurler Scheie syndrome.</kwd></kwd-group></article-meta></front></article>
