TY - JOUR AU - Angelini, Corrado PY - 2021/05/03 Y2 - 2024/03/28 TI - Exercise, nutrition and enzyme replacement therapy are efficacious in adult Pompe patients: report from EPOC Consortium JF - European Journal of Translational Myology JA - Eur J Transl Myol VL - 31 IS - 2 SE - Communications DO - 10.4081/ejtm.2021.9798 UR - https://www.pagepressjournals.org/bam/article/view/9798 SP - AB - <p>Pompe Disease, also known as glycogenosis type 2, is due to deficiency in lysosomal alpha- glucosidase, a lysosomal hydrolase, which presents infantile and late onset subtypes (LOPD). The myopathy in LOPD can be reversed by Enzyme Replacement Therapy (ERT), but might benefit from a concomitant low carbohydrate - high protein diet and aerobic exercise treatment. From 65 Late onset Pompe cases, we were able to obtain in 58 a self-reported evaluation, most of them gave a positive efficacy evaluation of Enzyme Replacement Therapy and they were classified by a self-administered scale as Responders or non-Responders. A cooperative study of a clinical group on LOPD monitored age, sex, BMI, Gardner-Medwin-Walton scale and six minute walking test (6MWT). The only clinical parameters that were significantly associated with a Responder category were the pre-ERT walking distance (p&lt;0.035) and the use of regular diet, exercise or both (p&lt;0.029). The present study shows that in LOPD this condition can be treated by ERT, but also benefits from concomitant diet and aerobic exercise therapy.</p> ER -