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

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, α(1)-iduronidase. MPS I has been recently classified into a severe (Hurler syndrome) and an attenuated type (Hurler-Scheie...

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Detalles Bibliográficos
Autores principales: Tatapudi, Ramesh, Gunashekhar, M., Raju, P. Suryanarayana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications Pvt Ltd 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3220181/
https://www.ncbi.nlm.nih.gov/pubmed/22114460
http://dx.doi.org/10.4103/0976-237X.79287
Descripción
Sumario: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, α(1)-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.

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