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Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients.
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.
Afiliación
  • Toquet S; Service de Médecine Interne, Hôpital Robert Debré, CHU Reims, France.
  • Spodenkiewicz M; Service de génétique, Hopital Maison Blanche, CHU Reims, France.
  • Douillard C; Service d'Endocrinologie et Métabolismes, Hôpital Claude Huriez, Centre de Référence des Maladies Héréditaires du métabolisme, CHU Lille, France.
  • Maillot F; Service de Médecine Interne, Hôpital Bretonneau, CHRU de Tours, France.
  • Arnoux JB; Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker-Enfants Malades, CHU Paris, France.
  • Damaj L; Service de Pédiatrie, CHU Hôpital Sud, Rennes, France.
  • Odent S; Service de Génétique Clinique, CHU Hôpital Sud, Rennes, France.
  • Moreau C; Service de Biochimie et Toxicologie, CHU Pontchaillou, Rennes, France.
  • Redonnet-Vernhet I; Laboratoire de Biochimie, Hôpital Pellegrin, CHU Bordeaux, France.
  • Mesli S; Laboratoire de Biochimie, Hôpital Pellegrin, CHU Bordeaux, France.
  • Servais A; Service de Néphrologie adulte, Hôpital Necker-Enfants Malades, CHU Paris, France.
  • Noel E; Service de Médecine Interne, Hôpital Universitaire de Strasbourg, CHRU Strasbourg, France.
  • Charriere S; Fédération d'endocrinologie, maladies métaboliques, diabète et nutrition, Hôpital Louis Pradel, Centre de Référence des Maladies Héréditaires du Métabolisme, Bron, France.
  • Rigalleau V; Service de Nutrition, CHU de Bordeaux, Pessac, France.
  • Lavigne C; Service de Médecine Interne, CHU Angers.
  • Kaphan E; Pôle de Neurosciences Cliniques, CHU Timone, AP-HM, Marseille, France.
  • Roubertie A; Département de neuropédiatrie, Hôpital Gui de Chauliac, CHU Montpellier, France.
  • Besson G; Service de Neurologie, CHU Grenoble Alpes, France.
  • Bigot A; Service de Médecine Interne, Hôpital Bretonneau, CHRU de Tours, France.
  • Servettaz A; Service de Médecine Interne, Hôpital Robert Debré, CHU Reims, France.
  • Mochel F; Département de génétique, Hôpital Pitié-Salpêtrière, CHU Paris, France.
  • Garnotel R; Laboratoire de Biochimie-Pharmacologie-Toxicologie, CHU Reims, France.
J Inherit Metab Dis ; 44(5): 1199-1214, 2021 09.
Article en En | MEDLINE | ID: mdl-34014557
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). Seventy-one patients were included (68% female, 32% male). The diagnosis was made in the context of (a) a metabolic decompensation (42%), (b) family history (55%), or (c) chronic symptoms (3%). The median age at diagnosis was 33 years (range 16-86). Eighty-nine percent of patients were diagnosed with OTC deficiency, 7% CPS1 deficiency, 3% HHH syndrome and 1% argininosuccinic aciduria. For those diagnosed during decompensations (including 23 OTC cases, mostly female), 89% required an admission in intensive care units. Seven deaths were attributed to UCD-6 decompensations and 1 epilepsy secondary to inaugural decompensation. This is the largest cohort of UCDs diagnosed in adulthood, which confirms the triad of neurological, gastrointestinal and psychiatric symptoms during hyperammonemic decompensations. We stress that females with OTC deficiency can be symptomatic. With 10% of deaths in this cohort, UCDs in adults remain a life-threatening condition. Physicians working in adult care must be aware of late-onset presentations given the implications for patients and their families.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos Innatos del Ciclo de la Urea Tipo de estudio: Diagnostic_studies / Observational_studies Límite: Adolescent / Adult / Aged / Aged80 / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: J Inherit Metab Dis Año: 2021 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos Innatos del Ciclo de la Urea Tipo de estudio: Diagnostic_studies / Observational_studies Límite: Adolescent / Adult / Aged / Aged80 / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: J Inherit Metab Dis Año: 2021 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Estados Unidos