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Adult-Onset Diagnosis Of Urea Cycle Disorders: Results Of A French Cohort Of 71 Patients

dc.rights.licenseopenen_US
dc.contributor.authorTOQUET, Segolene
dc.contributor.authorSPODENKIEWICZ, Marta
dc.contributor.authorDOUILLARD, Claire
dc.contributor.authorMAILLOT, Francois
dc.contributor.authorARNOUX, Jean-Baptiste
dc.contributor.authorDAMAJ, Lena
dc.contributor.authorODENT, Sylvie
dc.contributor.authorMOREAU, Caroline
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorREDONNET VERNHET, Isabelle
dc.contributor.authorMESLI, Samir
dc.contributor.authorSERVAIS, Aude
dc.contributor.authorNOEL, Esther
dc.contributor.authorCHARRIERE, Sybill
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorRIGALLEAU, Vincent
IDREF: 069788146
dc.contributor.authorLAVIGNE, Christian
dc.contributor.authorKAPHAN, Elsa
dc.contributor.authorROUBERTIE, Agathe
dc.contributor.authorBESSON, Gerard
dc.contributor.authorBIGOT, Adrien
dc.contributor.authorSERVETTAZ, Amelie
dc.contributor.authorMOCHEL, Fanny
dc.contributor.authorGARNOTEL, Roselyne
dc.date.accessioned2021-07-09T11:45:05Z
dc.date.available2021-07-09T11:45:05Z
dc.date.issued2021-05-20
dc.identifier.issn0141-8955en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/106489
dc.description.abstractEnBACKGROUND: 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. AIMS: Description of a cohort of patients with adult onset of UCDs. METHODS: 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). RESULTS: Seventy-one patients were included (68% female, 32% male). The diagnosis was made in the context of (i) a metabolic decompensation (42%), (ii) family history (55%), or (iii) 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. CONCLUSION: 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. This article is protected by copyright. All rights reserved.
dc.language.isoENen_US
dc.subject.enAdults
dc.subject.enHyperammonemia
dc.subject.enInherited metabolic diseases
dc.subject.enLate-onset diagnosis
dc.subject.enUrea cycle disorders
dc.title.enAdult-Onset Diagnosis Of Urea Cycle Disorders: Results Of A French Cohort Of 71 Patients
dc.typeArticle de revueen_US
dc.identifier.doi10.1002/jimd.12403en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed34014557en_US
bordeaux.journalJournal of Inherited Metabolic Diseaseen_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - UMR 1219en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.teamLEHA_BPH
bordeaux.teamLEHA_BPH
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.identifierhal-03282738
hal.version1
hal.date.transferred2021-07-09T11:45:10Z
hal.exporttrue
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