Adult‐onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients

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 mul...

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Veröffentlicht in:	Journal of inherited metabolic disease 2021-09, Vol.44 (5), p.1199-1214
Hauptverfasser:	Toquet, Ségolène, Spodenkiewicz, Marta, Douillard, Claire, Maillot, François, Arnoux, Jean‐Baptiste, Damaj, Lena, Odent, Sylvie, Moreau, Caroline, Redonnet‐Vernhet, Isabelle, Mesli, Samir, Servais, Aude, Noel, Esther, Charriere, Sybill, Rigalleau, Vincent, Lavigne, Christian, Kaphan, Elsa, Roubertie, Agathe, Besson, Gérard, Bigot, Adrien, Servettaz, Amélie, Mochel, Fanny, Garnotel, Roselyne
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult adults Age of Onset Aged Aged, 80 and over Arginase Argininosuccinic aciduria Argininosuccinic Aciduria - diagnosis Diagnosis Epilepsy Female Females France Humans Hyperammonemia Hyperammonemia - diagnosis inherited metabolic diseases Intensive care units late‐onset diagnosis Life Sciences Male Middle Aged Neonates Neurotoxicity Ornithine - deficiency Ornithine Carbamoyltransferase Deficiency Disease - diagnosis Rare diseases Retrospective Studies Santé publique et épidémiologie Sex Factors Urea urea cycle disorders Urea Cycle Disorders, Inborn - diagnosis Urea Cycle Disorders, Inborn - mortality Young Adult
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