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Mucopolysaccharidosis type I Hurler-Scheie syndrome: A rare case report
Journal article   Open access  Peer reviewed

Mucopolysaccharidosis type I Hurler-Scheie syndrome: A rare case report

Ramesh Tatapudi, M Gunashekhar and P Raju
Contemporary clinical dentistry, Vol.2(1), pp.66-68
01/01/2011
PMCID: PMC3220181
PMID: 22114460

Abstract

Disease Family medical history Heparan sulfate
Mucopolysaccharidosis I (MPS I) is a rare inherited disorder that belongs to a group of clinically progressive disorders and is caused by the deficiency of the lysosomal enzyme, α1 -iduronidase. MPS I has been recently classified into a severe (Hurler syndrome) and an attenuated type (Hurler-Scheie and Scheie syndromes). The purpose of this article was to describe a rare case of MPS type I, attenuated type (Hurler-Scheie) affecting a 15-year-old Indian child.
url
https://doi.org/10.4103/0976-237X.79287View
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