Preventing hyperhomocysteinemia using vitamin B supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review.
| dc.rights.license | open | en_US |
| hal.structure.identifier | Hôpital Haut-Lévêque [CHU Bordeaux] | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | REDONNET VERNHET, Isabelle | |
| hal.structure.identifier | Service de médecine interne et maladies infectieuses [Bordeaux] | |
| hal.structure.identifier | Biothérapies des maladies génétiques et cancers | |
| hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| hal.structure.identifier | CIC Bordeaux | |
| hal.structure.identifier | Bordeaux population health [BPH] | |
| hal.structure.identifier | BoRdeaux Institute in onCology [Inserm U1312 - BRIC] | |
| dc.contributor.author | MERCIE, Patrick | |
| hal.structure.identifier | Hôpital Pellegrin | |
| hal.structure.identifier | Université de Bordeaux [UB] | |
| hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| dc.contributor.author | LEBRETON, Louis | |
| hal.structure.identifier | Biothérapies des maladies génétiques et cancers | |
| hal.structure.identifier | Université de Bordeaux [UB] | |
| hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| hal.structure.identifier | Imagine - Institut des maladies génétiques (IHU) [Imagine - U1163] | |
| hal.structure.identifier | Laboratoire d'Excellence : Biogenèse et pathologies du globule rouge [Labex Gr-Ex] | |
| hal.structure.identifier | BoRdeaux Institute in onCology [Inserm U1312 - BRIC] | |
| dc.contributor.author | BLOUIN, Jean Marc | |
| hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| dc.contributor.author | BRONNIMANN, Didier | |
| hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| dc.contributor.author | MESLI, Samir | |
| hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| hal.structure.identifier | Laboratoire d'Excellence : Biogenèse et pathologies du globule rouge [Labex Gr-Ex] | |
| hal.structure.identifier | BoRdeaux Institute in onCology [Inserm U1312 - BRIC] | |
| dc.contributor.author | GUIBET, Claire | |
| hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| hal.structure.identifier | Immunology from Concept and Experiments to Translation = Immunologie Conceptuelle, Expérimentale et Translationnelle [ImmunoConcept] | |
| dc.contributor.author | RIBEIRO, Emmanuel | |
| hal.structure.identifier | Hôpital Saint-André [Bordeaux] | |
| hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| hal.structure.identifier | Immunology from Concept and Experiments to Translation = Immunologie Conceptuelle, Expérimentale et Translationnelle [ImmunoConcept] | |
| dc.contributor.author | GENSOUS, Noemie | |
| hal.structure.identifier | Hôpital Saint-André [Bordeaux] | |
| hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| hal.structure.identifier | Immunology from Concept and Experiments to Translation = Immunologie Conceptuelle, Expérimentale et Translationnelle [ImmunoConcept] | |
| dc.contributor.author | DUFFAU, Pierre | |
| hal.structure.identifier | Laboratoire d'Excellence : Biogenèse et pathologies du globule rouge [Labex Gr-Ex] | |
| dc.contributor.author | GOUYA, Laurent | |
| hal.structure.identifier | Hôpital Louis Mourier - AP-HP [Colombes] | |
| dc.contributor.author | RICHARD, Emmanuel
IDREF: 080889085 | |
| dc.date.accessioned | 2024-12-10T11:34:35Z | |
| dc.date.available | 2024-12-10T11:34:35Z | |
| dc.date.issued | 2024-06-01 | |
| dc.identifier.issn | 2214-4269 | en_US |
| dc.identifier.uri | https://oskar-bordeaux.fr/handle/20.500.12278/203816 | |
| dc.description.abstractEn | Acute 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.iso | EN | en_US |
| dc.rights | Attribution-NonCommercial-NoDerivs 3.0 United States | * |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/us/ | * |
| dc.subject.en | Acute hepatic porphyria | |
| dc.subject.en | Acute intermittent porphyria | |
| dc.subject.en | CBS deficiency | |
| dc.subject.en | Givosiran | |
| dc.subject.en | Hyperhomocysteinemia | |
| dc.subject.en | Vitamin B6 | |
| dc.title.en | Preventing hyperhomocysteinemia using vitamin B supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review. | |
| dc.title.alternative | Mol Genet Metab Rep | en_US |
| dc.type | Article de revue | en_US |
| dc.identifier.doi | 10.1016/j.ymgmr.2024.101076 | en_US |
| dc.subject.hal | Sciences du Vivant [q-bio]/Génétique | en_US |
| dc.identifier.pubmed | 38601120 | en_US |
| bordeaux.journal | Molecular Genetics and Metabolism Reports | en_US |
| bordeaux.page | 101076 | en_US |
| bordeaux.volume | 39 | en_US |
| bordeaux.hal.laboratories | Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 | en_US |
| bordeaux.institution | Université de Bordeaux | en_US |
| bordeaux.institution | INSERM | en_US |
| bordeaux.peerReviewed | oui | en_US |
| bordeaux.inpress | non | en_US |
| bordeaux.import.source | pubmed | |
| hal.identifier | hal-04829003 | |
| hal.version | 1 | |
| hal.date.transferred | 2024-12-10T11:34:38Z | |
| hal.popular | non | en_US |
| hal.audience | Internationale | en_US |
| hal.export | true | |
| workflow.import.source | pubmed | |
| dc.rights.cc | CC BY-NC-ND | en_US |
| bordeaux.COinS | ctx_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 |
