Validez de la prueba de actividad enzimática de la glucocerebrosidasa para el diagnóstico de enfermedad de Gaucher, revisión sistemática.

Introduction: The Gaucher disease is a metabolic disorder due to deficiency or absence of acid β-glucosidase enzyme. The diagnosis is clinically suspected, but requires confirmation by measuring the activity of acid β-glucosidase enzyme in leukocytes (gold standard) or in dried blood on filter paper. Objective: To assess the validity of the measurement of acid β-glucosidase enzyme activity in dried blood on filter paper compared to the standard of gold, for the diagnosis of Gaucher disease in patients with clinical suspicion. Methodology: A systematic review of literature was carried out. A PICO question was constructed and validated. A generic search strategy was used based on the key terms (Gaucher Disease and Dried Blood Spot Analysis). Two independent evaluators reviewed and assessed the quality, and extracted information from the articles. Results: Discarding the duplicates, 47 articles were obtained. Four complete texts were evaluated, and three of them were excluded when applying inclusion and exclusion criteria. The article that was included had an excellent quality and showed that the enzymatic activity of glucocerebrosidase in dried blood had a sensitivity of 82.3%, a specificity of 94.0% with a cut-off of 0.0-2.75, a sensitivity of 88.2% and specificity of 88.5% with a cut-off point of 0.0-4.4. Conclusions: The enzymatic measurement of acid β-glucosidase in dried blood is an excellent test for an initial diagnosis of Gaucher disease; however, it is not a conclusive proof. [ABSTRACT FROM AUTHOR]