Priya Kishnani, MD, Professor of Pediatrics at the Duke University School of Medicine, discusses the difference types of Pompe disease.
Pompe disease is a rare inherited lysosomal disorder due to inadequate levels of acid alpha-glucosidase (GAA) that results in the accumulation of glycogen in the body and causing damage – particularly to muscle tissue. Treatment is available for this condition that can dramatically attenuate disease progression.
As noted by Dr. Kishnani, Pompe disease symptoms, symptom onset, and symptom severity can vary greatly among individuals but the two broad categories used in the nomenclature are infantile-onset Pompe disease and late-onset Pompe disease.
Signs and symptoms of infantile-onset Pompe disease are observed at, or soon after, birth while late-onset symptoms do not appear sometime later. The very broad definition of late-onset Pompe disease does make it difficult to diagnose quickly but that problem has been addressed with newborn screening. Dr. Kishnani noted the one striking difference between infantile-onset and late-onset Pompe disease is the presence of cardiac muscle problems that exist in infantile-onset Pompe disease.
To learn more about Pompe disease and other genetic disorders, visit checkrare.com/diseases/congenital-and-genetic-conditions/