El laboratorio en el diagnóstico de las enfermedades metabólicas hereditarias. Impacto de las nuevas tecnologías

Inherited metabolic diseases are a group of more than 600 diseases classified according to the altered metabolic pathway and their pathogenesis. Most are diagnosed postnatally after recognition by a number of clinical symptoms suggestive of disease. Laboratories of biochemical and molecular genetics are involved in the recognition of these diseases as the analysis of metabolites, proteins and genes are key for diagnosis. This article reviews how (approach) these diseases are diagnosed and the biochemical and genetic laboratory techniques commonly used. It is in the area of identification of metabolites (mass spectrometry) and mutation detection (massive sequencing) where the impact of new technology in recent years has been spectacular, which facilitated rapid diagnosis with minimally invasive tests and will facilitate future population screening.