Research Groups

PKU and other amino acid genetic diseases


Coordinators of the group

  • Jaume Campistol Plana

The fact that our hospital institution is a reference centre for phenylketonuria in Catalonia has allowed us to study in depth the pathophysiological mechanisms involved in this disease in our patients and to test new treatments aimed to improve their metabolic control and neurologic prognosis. Our studies have led to the conclusion that some neuropsychological and neurological alterations are associated, on the one hand, with metabolic control, and on the other with antioxidant deficiencies. We have begun new treatments (with tetrahydrobiopterin) on our patients with phenylketonuria that have provided a better metabolic control and the possibility of freeing them from the special diet they were following. The monitoring of this treatment will be an important subject of study for the next three years. With respect to other disorders of the intermediate metabolism, mention should be made of our work on disorders of the metabolism of homocysteine and other amino acids, primarily addressed to characterising new disorders and new phenotypic presentations.