Open AccessExercise, nutrition and enzyme replacement therapy are efficacious in adult Pompe patients: report from EPOC Consortium
Author(s) -
Corrado Angelini
Publication year - 2021
Publication title -
european journal of translational myology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.271
H-Index - 6
eISSN - 2037-7460
pISSN - 2037-7452
DOI - 10.4081/ejtm.2021.9798
Subject(s) - enzyme replacement therapy , concomitant , medicine , myopathy , aerobic exercise , disease , glycogen storage disease type ii , physical therapy , endocrinology
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<0.035) and the use of regular diet, exercise or both (p<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.