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Preventing hyperhomocysteinemia using vitamin B supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review.

dc.rights.licenseopenen_US
hal.structure.identifierHôpital Haut-Lévêque [CHU Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorREDONNET VERNHET, Isabelle
hal.structure.identifierService de médecine interne et maladies infectieuses [Bordeaux]
hal.structure.identifierBiothérapies des maladies génétiques et cancers
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierCIC Bordeaux
hal.structure.identifierBordeaux population health [BPH]
hal.structure.identifierBoRdeaux Institute in onCology [Inserm U1312 - BRIC]
dc.contributor.authorMERCIE, Patrick
hal.structure.identifierHôpital Pellegrin
hal.structure.identifierUniversité de Bordeaux [UB]
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
dc.contributor.authorLEBRETON, Louis
hal.structure.identifierBiothérapies des maladies génétiques et cancers
hal.structure.identifierUniversité de Bordeaux [UB]
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierImagine - Institut des maladies génétiques (IHU) [Imagine - U1163]
hal.structure.identifierLaboratoire d'Excellence : Biogenèse et pathologies du globule rouge [Labex Gr-Ex]
hal.structure.identifierBoRdeaux Institute in onCology [Inserm U1312 - BRIC]
dc.contributor.authorBLOUIN, Jean Marc
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
dc.contributor.authorBRONNIMANN, Didier
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
dc.contributor.authorMESLI, Samir
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierLaboratoire d'Excellence : Biogenèse et pathologies du globule rouge [Labex Gr-Ex]
hal.structure.identifierBoRdeaux Institute in onCology [Inserm U1312 - BRIC]
dc.contributor.authorGUIBET, Claire
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierImmunology from Concept and Experiments to Translation = Immunologie Conceptuelle, Expérimentale et Translationnelle [ImmunoConcept]
dc.contributor.authorRIBEIRO, Emmanuel
hal.structure.identifierHôpital Saint-André [Bordeaux]
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierImmunology from Concept and Experiments to Translation = Immunologie Conceptuelle, Expérimentale et Translationnelle [ImmunoConcept]
dc.contributor.authorGENSOUS, Noemie
hal.structure.identifierHôpital Saint-André [Bordeaux]
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierImmunology from Concept and Experiments to Translation = Immunologie Conceptuelle, Expérimentale et Translationnelle [ImmunoConcept]
dc.contributor.authorDUFFAU, Pierre
hal.structure.identifierLaboratoire d'Excellence : Biogenèse et pathologies du globule rouge [Labex Gr-Ex]
dc.contributor.authorGOUYA, Laurent
hal.structure.identifierHôpital Louis Mourier - AP-HP [Colombes]
dc.contributor.authorRICHARD, Emmanuel
IDREF: 080889085
dc.date.accessioned2024-12-10T11:34:35Z
dc.date.available2024-12-10T11:34:35Z
dc.date.issued2024-06-01
dc.identifier.issn2214-4269en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/203816
dc.description.abstractEnAcute hepatic porphyrias are inherited metabolic disorders of heme biosynthesis characterized by the accumulation of toxic intermediate metabolites responsible for disabling acute neurovisceral attacks. Givosiran is a newly approved siRNA-based treatment of acute hepatic porphyria targeting the first and rate-limiting δ-aminolevulinic acid synthase 1 (ALAS1) enzyme of heme biosynthetic pathway. We described a 72-year old patient who presented with severe inaugural neurological form of acute intermittent porphyria evolving for several years which made her eligible for givosiran administration. On initiation of treatment, the patient developed a major hyperhomocysteinemia (>400 μmol/L) which necessitated to discontinue the siRNA-based therapy. A thorough metabolic analysis in the patient suggests that hyperhomocysteinemia could be attributed to a functional deficiency of cystathionine β-synthase (CBS) enzyme induced by givosiran. Long-term treatment with vitamin B, a cofactor of CBS, allowed to normalize homocysteinemia while givosiran treatment was maintained. We review the recently published cases of hyperhomocysteinemia in acute hepatic porphyria and its exacerbation under givosiran therapy. We also discuss the benefits of vitamin B supplementation in the light of hypothetic pathophysiological mechanisms responsible for hyperhomocysteinemia in these patients. Our results confirmed the importance of monitoring homocysteine metabolism and vitamin status in patients with acute intermittent porphyria in order to improve management by appropriate vitamin supplementation during givosiran treatment.
dc.language.isoENen_US
dc.rightsAttribution-NonCommercial-NoDerivs 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/us/*
dc.subject.enAcute hepatic porphyria
dc.subject.enAcute intermittent porphyria
dc.subject.enCBS deficiency
dc.subject.enGivosiran
dc.subject.enHyperhomocysteinemia
dc.subject.enVitamin B6
dc.title.enPreventing hyperhomocysteinemia using vitamin B supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review.
dc.title.alternativeMol Genet Metab Repen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1016/j.ymgmr.2024.101076en_US
dc.subject.halSciences du Vivant [q-bio]/Génétiqueen_US
dc.identifier.pubmed38601120en_US
bordeaux.journalMolecular Genetics and Metabolism Reportsen_US
bordeaux.page101076en_US
bordeaux.volume39en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.import.sourcepubmed
hal.identifierhal-04829003
hal.version1
hal.date.transferred2024-12-10T11:34:38Z
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exporttrue
workflow.import.sourcepubmed
dc.rights.ccCC BY-NC-NDen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Molecular%20Genetics%20and%20Metabolism%20Reports&rft.date=2024-06-01&rft.volume=39&rft.spage=101076&rft.epage=101076&rft.eissn=2214-4269&rft.issn=2214-4269&rft.au=REDONNET%20VERNHET,%20Isabelle&MERCIE,%20Patrick&LEBRETON,%20Louis&BLOUIN,%20Jean%20Marc&BRONNIMANN,%20Didier&rft.genre=article


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