Joint Transnational Call 2020 (JTC2020) CHARLIE : CHAnging Rare disorders of LysInE metabolism Rare inborn errors of lysine metabolism such as pyridoxine-dependent epilepsy (PDE) and glutaric aciduria type 1 (GA1) cause debilitating, often progressive neurologic symptoms. Although early detection via better diagnostics and newborn screening enables initiation of a medical diet, this therapy is often … Lire la suite de CHARLIE : CHAnging Rare disorders of LysInE metabolism