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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...
Autores principales: | , |
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Formato: | Texto |
Lenguaje: | English |
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Dove Medical Press
2007
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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. |
format | Text |
id | pubmed-2721312 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2007 |
publisher | Dove Medical Press |
record_format | MEDLINE/PubMed |
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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