Infantile Pompe disease: Clinical and genetic characteristics with an experience of enzyme replacement therapy

Pompe disease is an autosomal recessive disorder caused by lysosomal acid α-glucosidase deficiency. Infantile-onset Pompe disease presents with cardiomyopathy and hypotonia, leading to premature death. This article describes 7 infantile Pompe disease cases and provides their molecular bases and clinical outcomes after enzyme replacement therapy for the first time in Korea. Molecular genetic analyses revealed the presence of 9 different mutations, including 5 novel mutations (c.2171C>A, c.2774C>T, c.1582-3de12, c.1261-1263Tms, and c.1322-1326+9de114). The most common mutation in these 7 patients was c.1316T>A (28%). Four patients received intravenous recombinant human acid α-glucosidase therapy for 2 years, on average, without significant side effects during the treatment course. They all exhibited increased muscle power, with considerable improvement in cardiac function. Pompe disease is heterogeneous regarding both clinical features and molecular characteristics. Early identification of Pompe disease is very important, considering that enzyme replacement therapy is a safe and effective treatment for early-onset patients.