GLYCOGEN STORAGE DISEASE TYPE II: A NARRATIVE LITERATURE REVIEW AND A CASE REPORT OF LATE-ONSET POMPE DISEASE IN A YOUNG WHITE CHILD

Abstract

At all ages, skeletal muscle weakness characterizes Pompe disease, causes mobility problems and affects the respiratory system. We aimed to provide a narrative review of terminology, etiology, epidemiology, clinical manifestations, complications, and prognosis of Pompe disease, supported with a clinical case presentation. The clinical manifestation and complications of Pompe disease are illustrated with the clinical case presentation of a late-onset form in a white child. A comprehensive electronic literature search was performed on Ovid, Google Scholar, Scopus, PubMed, Embase, Cochrane Database, and World Health Organization databases to identify the articles that discussed Pompe disease. KEY WORDS: Glycogen storage disease, Pompe disease, review, clinical case, late-onset