Early onset Pompe disease is a rare disorder often diagnosed late. Hypotonia, muscle weakness and cardiorespiratory dysfunction are its hallmark. Blood assay of the GAA enzyme is a sensitive and specific marker of the disease. Early intervention with enzyme replacement therapy (ERT) improves morbidity and long term survival, however therapy is both costly and a lifelong requirement. Gene therapy which is on the horizon appears promising.
Bulbulia BA, Nazeefah Laher and Raeesa Bulbulia
All Published work is licensed under a Creative Commons Attribution 4.0 International License
Copyright © 2018 All rights reserved. iMedPub LTD Last revised : December 18, 2018