able to determine the altered function by measuring the metabolites of the pathway in the biochemistry laboratory of the Sant Joan de Déu Hospital and IRSJD directed by Dr. Rafael Artuch.
On the other hand, the team of researchers has also found alterations in mitochondria, the organelles responsible for the production of energy and vital for most of the biochemical functions essential for life.
"Thanks to genomic medicine, we can now diagnose patients who have been left unanswered for many years, and better understand the mechanisms that govern essential biochemical reactions and the development of organs and tissues," emphasizes Dr. Aurora Pujol.
Dr. Àngels Garcia-Cazorla, a neuropediatrician who follows the three patients diagnosed in the SJD Barcelona Children’s Hospital, adds that "as these are known biochemical pathways, we are working on experimental treatments to make up for the deficient metabolites with the aim of improving quality of life of patients."
