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Acta Neurológica Colombiana
versión impresa ISSN 0120-8748versión On-line ISSN 2422-4022
Resumen
SALGADO RUEDA, Sergio Andrés; RAMOS MARTINEZ, Diana Carolina; BOLANOS ALMEIDA, Carlos Ernesto y PARDO CARDOZO, Natalia Andrea. Treatment of Pompe Disease. Acta Neurol Colomb. [online]. 2023, vol.39, n.2, e4. Epub 02-Nov-2023. ISSN 0120-8748. https://doi.org/10.22379/anc.v39i2.1637.
Introduction:
Pompe disease is a disorder of genetic origin caused by the deficiency of the acid alpha-glucosidase enzyme, which is characterized by the abnormal accumulation of glycogen in the muscles and other tissues, generating progressive muscle weakness, which must be diagnosed and treated in a timely manner, since the prognosis, survival, and functionality of patients with this condition will depend on this.
Contents:
The multidisciplinary approach includes both an adequate evaluation and nutritional support as well as the initiation of disease-modifying treatment through enzyme replacement therapy, which in turn will depend on the form of presentation, the genetic variant, the initial profile of the patient, the special conditions that may exist and the specific goals for each patient. To guarantee adequate management, follow-up studies must be carried out with objective parameters, evaluate possible secondary events and establish their management in case of presenting them.
Conclusions:
The prognosis of this disease will depend on the timely initiation of treatment, the implementation of adequate nutritional guidelines and the establishment of monitoring of clinical and paraclinical parameters for each of the patients.
Palabras clave : Alfa-Glucosidase; Acid Lisosomal Maltase Deficiency; Pompe Disease; Glycogen Storage Disease Type II; Enzyme Replacement Therapy; Diet; Food; Nutrition.