Pompe Disease: Presentation and Management of Early Onset Type with Perioperative Considerations

Bulbulia BA; Nazeefah Laher; Raeesa Bulbulia

doi:10.21767/2380-7245.100189

Abstract

Pompe Disease: Presentation and Management of Early Onset Type with Perioperative Considerations

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.

Author(s):

Bulbulia BA, Nazeefah Laher and Raeesa Bulbulia

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