caa a22 4500 467933502 CHVBK 20180406152950.0 cr unu---uuuuu 170328e20060801xx s 000 0 eng 10.1007/s10545-006-0144-z doi (NATIONALLICENCE)springer-10.1007/s10545-006-0144-z Dietary treatment in adult-onset type II glycogenosis [Elektronische Daten] [Sabrina Ravaglia, Anna Pichiecchio, Miriam Rossi, Paola Filippi, Antonella Minelli, Arrigo Moglia, Cesare Danesino] Summary: Eight patients with adult-onset type II glycogenosis (GSD II), all carrying the IVS1−13T<G mutation, were treated with high-protein isocaloric diet for 3 years. We evaluated the usefulness of this approach through the assessment of the skeletal muscles (by manual muscle testing, quantitative isokinetic exercise, and muscle MRI) and the respiratory function (by spirometry). Three patients with mild or moderate disease severity refused the diet and were still monitored for comparison: they showed clinical (2 patients) or clinicoradiological (1 patient) progression of muscle weakness, while respiratory function remained unchanged. Among the patients accepting the dietary treatment, muscle strength remained unchanged, as did the degree of fatty infiltration and atrophy as assessed by muscle MRI; respiratory function worsened in 2/5 patients with severe baseline respiratory dysfunction. High-protein diet may stabilize disease progression at the skeletal muscles, but does not produce significant clinical improvements; moreover, the usefulness of this approach in patients with severe respiratory disease seems questionable. SSIEM and Springer, 2006 Ravaglia Sabrina Institute of Neurology IRCCS ‘C. Mondino', University of Pavia, Pavia, Italy aut Pichiecchio Anna Institute of Neurology IRCCS ‘C. Mondino', University of Pavia, Pavia, Italy aut Rossi Miriam Department of Preventive Medicine, Hygiene Section, University of Pavia, Pavia, Italy aut Filippi Paola General Biology and Medical Genetics, IRCCS S Matteo and University of Pavia, Pavia, Italy aut Minelli Antonella General Biology and Medical Genetics, IRCCS S Matteo and University of Pavia, Pavia, Italy aut Moglia Arrigo Institute of Neurology IRCCS ‘C. Mondino', University of Pavia, Pavia, Italy aut Danesino Cesare General Biology and Medical Genetics, IRCCS S Matteo and University of Pavia, Pavia, Italy aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 590-590 0141-8955 29:4<590 2006 29 10545 https://doi.org/10.1007/s10545-006-0144-z text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0144-z text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Ravaglia Sabrina Institute of Neurology IRCCS ‘C. Mondino', University of Pavia, Pavia, Italy aut NATIONALLICENCE 700 1- Pichiecchio Anna Institute of Neurology IRCCS ‘C. Mondino', University of Pavia, Pavia, Italy aut NATIONALLICENCE 700 1- Rossi Miriam Department of Preventive Medicine, Hygiene Section, University of Pavia, Pavia, Italy aut NATIONALLICENCE 700 1- Filippi Paola General Biology and Medical Genetics, IRCCS S Matteo and University of Pavia, Pavia, Italy aut NATIONALLICENCE 700 1- Minelli Antonella General Biology and Medical Genetics, IRCCS S Matteo and University of Pavia, Pavia, Italy aut NATIONALLICENCE 700 1- Moglia Arrigo Institute of Neurology IRCCS ‘C. Mondino', University of Pavia, Pavia, Italy aut NATIONALLICENCE 700 1- Danesino Cesare General Biology and Medical Genetics, IRCCS S Matteo and University of Pavia, Pavia, Italy aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 590-590 0141-8955 29:4<590 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer