Enfermedad de Pompe: descripción de las características clínicas y de laboratorio de una familia colombiana

pompe disease (pd) is due to lisosomal enzyme acid maltase or acid alpha-glucosidase deficit and clinically lies expressed such as a myopathy. the amount and quality of enzyme establish the variety of presentation. in the following report we show the way of debut, clinical characteristics, lab findings and the follow up of two cases evaluated with pd and we made a review of the literature.