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Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel variant.

dc.rights.licenseopenen_US
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
dc.contributor.authorMARIN, Victor
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
dc.contributor.authorLEBRETON, Louis
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierBoRdeaux Institute in onCology [Inserm U1312 - BRIC]
dc.contributor.authorGUIBET, Claire
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
dc.contributor.authorMESLI, Samir
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.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
dc.contributor.authorDEXANT, Mathurin
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
dc.contributor.authorLAMIREAU, Delphine
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
dc.contributor.authorROCHE, Sandrine
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
dc.contributor.authorGASCHIGNARD, Margaux
hal.structure.identifierHôpital Pellegrin
dc.contributor.authorDELMAS, Jean
hal.structure.identifierService de génétique médicale
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorMARGOT, Henri
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
dc.contributor.authorBAR, Claire
dc.date.accessioned2024-12-10T15:45:59Z
dc.date.available2024-12-10T15:45:59Z
dc.date.issued2024-09-11
dc.identifier.issn1664-8021en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/203817
dc.description.abstractEnNonketotic hyperglycinemia (NKH) is a rare, autosomal recessive metabolic disorder usually associated with mutations in genes , or involved in the glycine cleavage complex. Other genes have been linked with less severe NKH, associated with deficiency of lipoate cofactor such as . We identified a new case of GLRX5-mediated NKH who presented at 2-month with severe developmental delay and seizures. The initial suspicion was raised by the MRI and then confirmed by glycine measurements in cerebrospinal fluid and blood. Genetic analysis revealed a previously undescribed homozygous variant in the gene [NM_016417.3:c.367G>C; p. (Asp123His)]. Despite medication and supportive care, he died at the age of 4 months after a sudden neurological deterioration. It was decided to limit therapeutic interventions due to the severity of the prognosis. The case was more severe than the previous GLRX5-mediated NKH described, regarding the early age at onset and the severity. Moreover, the genetic variant was located at a potentially crucial site for glutathione binding in the GLRX5 protein. This report, thereby, expands our understanding of NKH's genetic underpinnings and phenotypic variability, highlighting the crucial role of and other related genes in variant NKH.
dc.language.isoENen_US
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.subject.enGLRX5
dc.subject.enNKH
dc.subject.enNonketotic hyperglycinemia
dc.subject.enClinical genetics
dc.subject.enGlycine cleavage system
dc.subject.enMetabolic disorders
dc.title.enCase report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel variant.
dc.title.alternativeFront Geneten_US
dc.typeArticle de revueen_US
dc.identifier.doi10.3389/fgene.2024.1432272en_US
dc.subject.halSciences du Vivant [q-bio]/Génétiqueen_US
dc.identifier.pubmed39323869en_US
bordeaux.journalFrontiers in Geneticsen_US
bordeaux.page1432272en_US
bordeaux.volume15en_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-04829821
hal.version1
hal.date.transferred2024-12-10T15:46:02Z
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exporttrue
workflow.import.sourcepubmed
dc.rights.ccCC BYen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Frontiers%20in%20Genetics&rft.date=2024-09-11&rft.volume=15&rft.spage=1432272&rft.epage=1432272&rft.eissn=1664-8021&rft.issn=1664-8021&rft.au=MARIN,%20Victor&LEBRETON,%20Louis&GUIBET,%20Claire&MESLI,%20Samir&REDONNET%20VERNHET,%20Isabelle&rft.genre=article


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