T Merk1, T Wibmer, C Schumann, S Krüger. 1. Innere Medizin II, University Hospital of Ulm, Ulm, Germany. tobias.merk@uniklinik-ulm.de
Abstract
BACKGROUND: Pompe disease (Glycogen storage disorder type II) is an inherited disease because of a lack or reduced activity of the enzyme alpha-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.
BACKGROUND: Pompe disease (Glycogen storage disorder type II) is an inherited disease because of a lack or reduced activity of the enzyme alpha-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.
Authors: Dwight D Koeberl; Laura E Case; Edward C Smith; Crista Walters; Sang-Oh Han; Yanzhen Li; Wei Chen; Christoph P Hornik; Kim M Huffman; William E Kraus; Beth L Thurberg; David L Corcoran; Deeksha Bali; Nenad Bursac; Priya S Kishnani Journal: Mol Ther Date: 2018-07-05 Impact factor: 11.454
Authors: Edward J Cupler; Kenneth I Berger; Robert T Leshner; Gil I Wolfe; Jay J Han; Richard J Barohn; John T Kissel Journal: Muscle Nerve Date: 2011-12-15 Impact factor: 3.217
Authors: Benedikt Schoser; Andrew Stewart; Steve Kanters; Alaa Hamed; Jeroen Jansen; Keith Chan; Mohammad Karamouzian; Antonio Toscano Journal: J Neurol Date: 2016-07-02 Impact factor: 4.849