Variable response to enzyme replacement therapy in two Chinese children with infantile-onset Pompe disease in Hong Kong

Abstract

Pompe disease, a rare autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase, results in lysosomal accumulation of glycogen in multiple tissues, primarily affecting muscles. Infantileonset Pompe disease is characterised by generalised muscle weakness, hypotonia and lethal cardiomyopathy, resulting in death within the first year of life. The advent of enzyme replacement therapy has changed the natural history of the disease. We report our experience of the use of recombinant human acid alpha-glucosidase in the treatment of two Chinese patients with infantile-onset Pompe disease in Hong Kong.