Enzyme replacement therapy (ERT) has recently became available for patients with glycogen storage disease type II. Previous studies have demonstrated clinical efficacy of enzyme replacement therapy, however, data on physiological variables related to exercise tolerance are scarce. Four glycogen storage disease type II late-onset patients (45±6years) performed an incremental exercise on a cycle ergometer, up to voluntary exhaustion, before (BEFORE) and after 12months of ERT (AFTER). Peak workload, oxygen uptake, heart rate, cardiac output (by impedance cardiography) and vastus lateralis oxygenation indices (by continuous-wave near-infrared spectroscopy, NIRS) were determined. Peak workload and oxygen uptake values significantly increased during ERT (54±30 vs. 63±31 watt, and 17.2±4.4 vs. 19.7±3.5ml/kg/min, respectively, in BEFORE vs. AFTER). On the other hand, for both peak cardiac output (12.3±5.3 vs. 14.8±4.5L/min) and the NIRS-determined peak skeletal muscle fractional O2 extraction, expressed as a percentage of the maximal values during a transient limb ischemia (30±39% vs. 38±28%), the observed increases were not statistically significant. Our findings suggest that in glycogen storage disease type II patients enzyme replacement therapy is associated with a mild improvement of exercise tolerance. The findings need to be validated during a longer follow-up on a larger group of patients.

Exercise testing in late-onset glycogen storage disease type II patients undergoing enzyme replacement therapy / M. Marzorati, S. Porcelli, G. Bellistri, L. Morandi, B. Grassi. - In: NEUROMUSCULAR DISORDERS. - ISSN 0960-8966. - 22:3 (Suppl.)(2012 Dec), pp. S230-S234. ((Intervento presentato al 12. convegno MUSCLE FATIGUE IN NEUROMUSCULAR DISORDERS: PATHOGENIC MECHANISMS AND TREATMENT : International Congress on Neuromuscular Diseases tenutosi a Pisa, Italy nel 2010.

Exercise testing in late-onset glycogen storage disease type II patients undergoing enzyme replacement therapy

S. Porcelli
Secondo
;
G. Bellistri;B. Grassi
Ultimo
2012-12

Abstract

Enzyme replacement therapy (ERT) has recently became available for patients with glycogen storage disease type II. Previous studies have demonstrated clinical efficacy of enzyme replacement therapy, however, data on physiological variables related to exercise tolerance are scarce. Four glycogen storage disease type II late-onset patients (45±6years) performed an incremental exercise on a cycle ergometer, up to voluntary exhaustion, before (BEFORE) and after 12months of ERT (AFTER). Peak workload, oxygen uptake, heart rate, cardiac output (by impedance cardiography) and vastus lateralis oxygenation indices (by continuous-wave near-infrared spectroscopy, NIRS) were determined. Peak workload and oxygen uptake values significantly increased during ERT (54±30 vs. 63±31 watt, and 17.2±4.4 vs. 19.7±3.5ml/kg/min, respectively, in BEFORE vs. AFTER). On the other hand, for both peak cardiac output (12.3±5.3 vs. 14.8±4.5L/min) and the NIRS-determined peak skeletal muscle fractional O2 extraction, expressed as a percentage of the maximal values during a transient limb ischemia (30±39% vs. 38±28%), the observed increases were not statistically significant. Our findings suggest that in glycogen storage disease type II patients enzyme replacement therapy is associated with a mild improvement of exercise tolerance. The findings need to be validated during a longer follow-up on a larger group of patients.
Cardiac output; Glycogen storage disease type II; Near-infrared spectroscopy; Oxidative metabolism; Adult; Age of Onset; Cardiac Output; Exercise Test; Exercise Tolerance; Female; Follow-Up Studies; Glycogen Storage Disease Type II; Heart Rate; Humans; Male; Middle Aged; Oxygen Consumption; Treatment Outcome; alpha-Glucosidases; Enzyme Replacement Therapy; Neurology (clinical); Pediatrics, Perinatology and Child Health; Genetics (clinical); Neurology
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/301581
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