Glycogen storage disease type II (Pompe disease) – influence of enzyme replacement therapy in adults

Abstract

Background: Pompe disease (Glycogen storage disorder type II) is an inherited disease because of a lack or reduced activity of the enzyme α-1,4-glucosidase (acid maltase). Since 2006, an intravenous enzyme replacement therapy (ERT) with Myozyme^™ (Genzyme Corporation, Cambridge, MA, USA) is available. Methods: Four adult patients aged between 39 and 68 years received ERT over a period of 6 months. Clinical and functional parameters were registered longitudinally. Results: In three patients, a considerable improvement of symptoms could be noticed, patients with pre-existing respiratory insufficiency seemed to profit most. In all patients, a continuous decrease of initially raised laboratory parameters (creatine kinase, lactic dehydrogenase, transaminases) was striking. Conclusions: Enzyme replacement therapy seems to be a long-term effective therapy in adult patients with Pompe disease. Whether all patients will profit from an improvement of symptoms or at least a stabilisation of the otherwise progressive disease is currently not definitively clear.