POMPE DISEASE: CLINICAL CHARACTERISTICS, DIAGNOSIS, AND MANAGEMENT

Abstract

Pompe disease is a genetic neuromuscular disorder caused by a deficiency of the acid α-glucosidase enzyme
leading to lysosomal glycogen accumulation. Disease phenotypes range from the severe infantileonset
Pompe disease to the slowly progressive late-onset. Until 2006, the management of Pompe disease
has been limited to supportive and palliative care. Since 2006, enzyme replacement therapy (ERT) has been
available. The requirement of weekly life-long intravenous infusions along with the inability of the enzyme
to reach skeletal muscle led to the development of several alternative forms of ERT and the initiation of
gene therapy trials in Pompe disease. With the advent of new therapeutic options, a timely diagnosis of
Pompe disease is of critical importance, as the prompt therapy has a significant clinical impact on disease
course. This article aims to review current literature on Pompe disease and present the latest insights about
clinical characteristics, diagnosis, novel therapies, and the impact of COVID-19 pandemic on the management
of this treatable neuromuscular disorder.