Efectividad de la glucosa Tetrasacarido (glc4) como Biomarcador de apoyo diagnóstico de la Enfermedad de Pompe. Revisión sistemática de la literatura

Abstract

Objectives: To analyze the effectiveness of Glc4 as a diagnostic support biomarker for Pompe disease. Introduction: Pompe disease is a neuromuscular disorder, progressive and frequently fatal, caused by the mutation in the gene that produces the acid lysosomal alpha-glucosidase enzyme, whose action is to degrade glycogen. There is a need to standardize a biomarker such as Glc4 that allows, quickly and practically, to determine the deficiency of the enzyme. Methods: A systematic search was carried out in the following databases: Medline (Pubmed), ScienceDirect, Cochrane Library, Clinicaltrials.gov and Google Scholar. The studies were screened by title and abstract to subsequently perform a full text screening based on selection criteria. A qualitative synthesis was performed with the included studies. Results: 18 studies met the selection criteria, the synthesis of which was qualitative given the high methodological heterogeneity between studies, with 386 participants (63.99% IOPD and 55.06 LOPD), 53.57% had elevated baseline Glc4 levels. Conclusions: Glc4 can be used as a diagnostic support biomarker of Pompe disease, since it has a directly proportional relationship with the increase in glycogen, however, in patients with early presentation or mild affectations it can be complemented with genetic tests, of imaging and physiatry.