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Case Report: Mucopolysaccharidosis Type I Treatment With α-L-Iduronidase Replacement Therapy

Mucopolysaccharidosis is a rare disease and can be divided into seven different subtypes, according to the affected enzyme. Mucopolysaccharidosis type I, the first subtype discovered and reported, mainly affects the in vivo storage of degraded sugar. The current treatment methods are symptomatic the...

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Detalles Bibliográficos
Autores principales: Li, Ying, Liu, Deyun, Yu, Yue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9010773/
https://www.ncbi.nlm.nih.gov/pubmed/35433540
http://dx.doi.org/10.3389/fped.2022.823044
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author Li, Ying
Liu, Deyun
Yu, Yue
author_facet Li, Ying
Liu, Deyun
Yu, Yue
author_sort Li, Ying
collection PubMed
description Mucopolysaccharidosis is a rare disease and can be divided into seven different subtypes, according to the affected enzyme. Mucopolysaccharidosis type I, the first subtype discovered and reported, mainly affects the in vivo storage of degraded sugar. The current treatment methods are symptomatic therapy, enzyme replacement therapy, and allogeneic hematopoietic stem cell transplantation. In China, the enzyme for the treatment of mucopolysaccharidosis type I was approved in June 2020. We report a case of an 18-month-old Chinese boy with mucopolysaccharidosis type I who received enzyme replacement therapy with concentrated laronidase solution. This is the second case of the disease in China, and the first case of a child under 2 years of age. Following the therapy, urine mucopolysaccharide particle levels were significantly lower, and the patient's symptoms improved. The medical records of Chinese patients who have been treated with enzyme replacement therapy for mucopolysaccharidosis type I also showed similar results. This case demonstrated that enzyme replacement therapy is a safe and effective treatment for patients with mucopolysaccharidosis type I.
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spelling pubmed-90107732022-04-16 Case Report: Mucopolysaccharidosis Type I Treatment With α-L-Iduronidase Replacement Therapy Li, Ying Liu, Deyun Yu, Yue Front Pediatr Pediatrics Mucopolysaccharidosis is a rare disease and can be divided into seven different subtypes, according to the affected enzyme. Mucopolysaccharidosis type I, the first subtype discovered and reported, mainly affects the in vivo storage of degraded sugar. The current treatment methods are symptomatic therapy, enzyme replacement therapy, and allogeneic hematopoietic stem cell transplantation. In China, the enzyme for the treatment of mucopolysaccharidosis type I was approved in June 2020. We report a case of an 18-month-old Chinese boy with mucopolysaccharidosis type I who received enzyme replacement therapy with concentrated laronidase solution. This is the second case of the disease in China, and the first case of a child under 2 years of age. Following the therapy, urine mucopolysaccharide particle levels were significantly lower, and the patient's symptoms improved. The medical records of Chinese patients who have been treated with enzyme replacement therapy for mucopolysaccharidosis type I also showed similar results. This case demonstrated that enzyme replacement therapy is a safe and effective treatment for patients with mucopolysaccharidosis type I. Frontiers Media S.A. 2022-04-01 /pmc/articles/PMC9010773/ /pubmed/35433540 http://dx.doi.org/10.3389/fped.2022.823044 Text en Copyright © 2022 Li, Liu and Yu. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Li, Ying
Liu, Deyun
Yu, Yue
Case Report: Mucopolysaccharidosis Type I Treatment With α-L-Iduronidase Replacement Therapy
title Case Report: Mucopolysaccharidosis Type I Treatment With α-L-Iduronidase Replacement Therapy
title_full Case Report: Mucopolysaccharidosis Type I Treatment With α-L-Iduronidase Replacement Therapy
title_fullStr Case Report: Mucopolysaccharidosis Type I Treatment With α-L-Iduronidase Replacement Therapy
title_full_unstemmed Case Report: Mucopolysaccharidosis Type I Treatment With α-L-Iduronidase Replacement Therapy
title_short Case Report: Mucopolysaccharidosis Type I Treatment With α-L-Iduronidase Replacement Therapy
title_sort case report: mucopolysaccharidosis type i treatment with α-l-iduronidase replacement therapy
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9010773/
https://www.ncbi.nlm.nih.gov/pubmed/35433540
http://dx.doi.org/10.3389/fped.2022.823044
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