Our goal is to improve the lives of people with inborn errors of protein metabolism.
Inborn errors of protein metabolism are a range of metabolic diseases in which an enzyme is not able to break down one or more amino acids. This impaired metabolism, if not properly treated, can cause several neurological and physical damages. The most common disease that affects protein metabolism is phenylketonuria (PKU). PKU is screened in new-born babies using a blood test. Treatment involves a strict low-protein diet and the consumption of amino acid mixtures for life.