Our goal is to improve the quality of life for people suffering from inborn errors of protein metabolism.
In order to meet the needs of these patients, we work with medical specialists from all around the world. Currently there are about 7 main categories of inborn errors of protein metabolism with variable epidemiology. Our main focus is on Phenylketonuria (PKU), affecting around 1: 10.000 newborns.
Phenylketonuria is an inborn error of metabolism caused predominantly by mutations in the phenylalanine hydroxylase (PAH) gene.