Enzyme replacement therapy in Hurler syndrome after failure of hematopoietic transplant

The most severe form of Mucopolysaccharosidosis type I (MPS-I), Hurler syndrome, presents with progressive respiratory, cardiac and musculoskeletal symptoms and cognitive deterioration. Treatment includes enzyme replacement therapy (ERT) and/or hematopoietic stem cell transplantation (HSCT). We desc...

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Detalles Bibliográficos
Autores principales: Arranz, Leonor, Aldamiz-Echevarria, Luis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750618/
https://www.ncbi.nlm.nih.gov/pubmed/26937401
http://dx.doi.org/10.1016/j.ymgmr.2015.04.003
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author Arranz, Leonor
Aldamiz-Echevarria, Luis
author_facet Arranz, Leonor
Aldamiz-Echevarria, Luis
author_sort Arranz, Leonor
collection PubMed
description The most severe form of Mucopolysaccharosidosis type I (MPS-I), Hurler syndrome, presents with progressive respiratory, cardiac and musculoskeletal symptoms and cognitive deterioration. Treatment includes enzyme replacement therapy (ERT) and/or hematopoietic stem cell transplantation (HSCT). We describe the case of an 8-year old boy with MPS-I, homozygous for W402X, treated at 10 months of age with HSCT and after failure of the transplant, with ERT during 2 years showing good results, including a positive neuropsychological development.
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spelling pubmed-47506182016-03-02 Enzyme replacement therapy in Hurler syndrome after failure of hematopoietic transplant Arranz, Leonor Aldamiz-Echevarria, Luis Mol Genet Metab Rep Case Report The most severe form of Mucopolysaccharosidosis type I (MPS-I), Hurler syndrome, presents with progressive respiratory, cardiac and musculoskeletal symptoms and cognitive deterioration. Treatment includes enzyme replacement therapy (ERT) and/or hematopoietic stem cell transplantation (HSCT). We describe the case of an 8-year old boy with MPS-I, homozygous for W402X, treated at 10 months of age with HSCT and after failure of the transplant, with ERT during 2 years showing good results, including a positive neuropsychological development. Elsevier 2015-05-14 /pmc/articles/PMC4750618/ /pubmed/26937401 http://dx.doi.org/10.1016/j.ymgmr.2015.04.003 Text en © 2015 Published by Elsevier Inc. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Arranz, Leonor
Aldamiz-Echevarria, Luis
Enzyme replacement therapy in Hurler syndrome after failure of hematopoietic transplant
title Enzyme replacement therapy in Hurler syndrome after failure of hematopoietic transplant
title_full Enzyme replacement therapy in Hurler syndrome after failure of hematopoietic transplant
title_fullStr Enzyme replacement therapy in Hurler syndrome after failure of hematopoietic transplant
title_full_unstemmed Enzyme replacement therapy in Hurler syndrome after failure of hematopoietic transplant
title_short Enzyme replacement therapy in Hurler syndrome after failure of hematopoietic transplant
title_sort enzyme replacement therapy in hurler syndrome after failure of hematopoietic transplant
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750618/
https://www.ncbi.nlm.nih.gov/pubmed/26937401
http://dx.doi.org/10.1016/j.ymgmr.2015.04.003
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