Pompe disease
The author describes the clinical, pathological, biochemical, and molecular features of Pompe disease, which is an underrecognized and extremely heterogeneous glycogen storage disease. Tremendous advances in infantile-onset Pompe disease have occurred since the development of enzyme replacement therapy (ERT)—the first FDA-approved treatment for this otherwise lethal disorder. Therapeutic success has subsequently been noted in both infantile-onset and late-onset patients, with those who begin enzyme replacement therapy earlier in the course of disease progression tending to respond better to treatment. Other factors in treatment response are now recognized, including negative impact of high and sustained antibody titers on the infused enzyme, the role of cross-reactive immunological material (CRIM) status in the mounting of immune response, variable treatment efficacy due to muscle fiber type, angiotensin-converting enzyme (ACE) insertion/deletion, ACTN3 variants, and the effects of defective autophagy. With the continued development of novel therapies, adjunctive treatments, and newborn screening programs, advancements in the treatment and management of Pompe disease continue to push the boundaries of modern medicine.
