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...
morePompe 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 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 (ERT) and they were classified by a self-administered scale as Responders (R) or non-Responders (N). By a cooperative study of a clinical group on LOPD age, sex, BMI, Gardner-Medwin-Walton (GMW) scale and six minute walking test (6MWT) were monitored, the only clinical parameters that were significantly associated with a Responder category were the pre-ERT walking distance (p<0.035) 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.
