Ségolène Toquet, Marta Spodenkiewicz, Claire Douillard, François Maillot, Jean-Baptiste Arnoux, Lena Damaj, Sylvie Odent, Caroline Moreau, Isabelle Redonnet-Vernhet, Samir Mesli, Aude Servais, Esther Noel, Sybill Charriere, Vincent Rigalleau, Christian Lavigne, Elsa Kaphan, Agathe Roubertie, Gérard Besson, Adrien Bigot, Amélie Servettaz, Fanny Mochel, Roselyne Garnotel
Urea cycle disorders (UCD) are rare diseases that usually affect neonates or young children. During decompensations, hyperammonemia is neurotoxic, leading to severe symptoms and even coma and death if not treated rapidly. The aim was to describe a cohort of patients with adult onset of UCDs in a multicentric, retrospective and descriptive study of French adult patients with a diagnosis after 16 years of age of UCDs due to a deficiency in one of the 6 enzymes (arginase, ASL, ASS, CPS1, NAGS, OTC) or the two transporters (ORNT1 or citrin)...
September 2021: Journal of Inherited Metabolic Disease