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A review of treatment of Pompe disease in infants

The glycogen storage disease type II (GSD-II), or Pompe disease, is due to the deficit of lysosomal glycogen degradation enzyme acid α-glucosidase (GAA). In infants, Pompe disease is characterized by prominent hypotonia, muscle weakness, motor delay, feeding problems, and respiratory and cardiac ins...

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Detalles Bibliográficos
Autores principales: Chien, Yin-Hsiu, Hwu, Wuh-Liang
Formato: Texto
Lenguaje:English
Publicado: Dove Medical Press 2007
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2721312/
https://www.ncbi.nlm.nih.gov/pubmed/19707330
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author Chien, Yin-Hsiu
Hwu, Wuh-Liang
author_facet Chien, Yin-Hsiu
Hwu, Wuh-Liang
author_sort Chien, Yin-Hsiu
collection PubMed
description The glycogen storage disease type II (GSD-II), or Pompe disease, is due to the deficit of lysosomal glycogen degradation enzyme acid α-glucosidase (GAA). In infants, Pompe disease is characterized by prominent hypotonia, muscle weakness, motor delay, feeding problems, and respiratory and cardiac insufficiency. In a retrospective study, the median age at death was 8.7 months. Enzyme replacement therapy with recombinant human GAA is recently used to treat patients with Pompe disease, and has been shown to prolong survival, reverse cardiomyopathy, and improve motor function. This article briefly reviews the history and manifestations of Pompe disease, and then focuses on the development of the drug for Pompe disease, alglucosidase alfa. Current status of treatment and future developments are also discussed.
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spelling pubmed-27213122009-08-25 A review of treatment of Pompe disease in infants Chien, Yin-Hsiu Hwu, Wuh-Liang Biologics Review The glycogen storage disease type II (GSD-II), or Pompe disease, is due to the deficit of lysosomal glycogen degradation enzyme acid α-glucosidase (GAA). In infants, Pompe disease is characterized by prominent hypotonia, muscle weakness, motor delay, feeding problems, and respiratory and cardiac insufficiency. In a retrospective study, the median age at death was 8.7 months. Enzyme replacement therapy with recombinant human GAA is recently used to treat patients with Pompe disease, and has been shown to prolong survival, reverse cardiomyopathy, and improve motor function. This article briefly reviews the history and manifestations of Pompe disease, and then focuses on the development of the drug for Pompe disease, alglucosidase alfa. Current status of treatment and future developments are also discussed. Dove Medical Press 2007-09 2007-09 /pmc/articles/PMC2721312/ /pubmed/19707330 Text en © 2007 Dove Medical Press Limited. All rights reserved
spellingShingle Review
Chien, Yin-Hsiu
Hwu, Wuh-Liang
A review of treatment of Pompe disease in infants
title A review of treatment of Pompe disease in infants
title_full A review of treatment of Pompe disease in infants
title_fullStr A review of treatment of Pompe disease in infants
title_full_unstemmed A review of treatment of Pompe disease in infants
title_short A review of treatment of Pompe disease in infants
title_sort review of treatment of pompe disease in infants
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2721312/
https://www.ncbi.nlm.nih.gov/pubmed/19707330
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