Clinical Management and Diagnosis of Pompe Disease (PD): An Overview

Pompe disease (PD) is an inherited metabolic disorder caused by a deficiency of acid
-glucosidase (GAA), leading to lysosomal accumulation of glycogen, mainly in skeletal and cardiac muscles as well as the nervous system. Patients with PD develop cellular dysfunction and muscle damage. PD can be classified into two classic forms, namely infantile-onset PD (IOPD) and late-onset PD (LOPD). Without timely treatment, especially in IOPD, patients may experience organ damage and early mortality. Early diagnosis and intervention are crucial in reducing complications in both forms of the disease. This article reviews the common clinical presentations of PD, the role of newborn screening (NBS) and activity leading to earlier onset, more aggressive disease progression, and worse prognosis. Importantly, the age of onset does not always correspond to specific subtypes of PD. For instance, late-infantile or non-classic PD may also present during infancy.