Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel variant.
| dc.rights.license | open | en_US |
| hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| dc.contributor.author | MARIN, Victor | |
| hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| dc.contributor.author | LEBRETON, Louis | |
| hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| 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] | |
| dc.contributor.author | MESLI, Samir | |
| 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 | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| dc.contributor.author | DEXANT, Mathurin | |
| hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| dc.contributor.author | LAMIREAU, Delphine | |
| hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| dc.contributor.author | ROCHE, Sandrine | |
| hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| dc.contributor.author | GASCHIGNARD, Margaux | |
| hal.structure.identifier | Hôpital Pellegrin | |
| dc.contributor.author | DELMAS, Jean | |
| hal.structure.identifier | Service de génétique médicale | |
| hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | MARGOT, Henri | |
| hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| dc.contributor.author | BAR, Claire | |
| dc.date.accessioned | 2024-12-10T15:45:59Z | |
| dc.date.available | 2024-12-10T15:45:59Z | |
| dc.date.issued | 2024-09-11 | |
| dc.identifier.issn | 1664-8021 | en_US |
| dc.identifier.uri | https://oskar-bordeaux.fr/handle/20.500.12278/203817 | |
| dc.description.abstractEn | Nonketotic 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.iso | EN | en_US |
| dc.rights | Attribution 3.0 United States | * |
| dc.rights.uri | http://creativecommons.org/licenses/by/3.0/us/ | * |
| dc.subject.en | GLRX5 | |
| dc.subject.en | NKH | |
| dc.subject.en | Nonketotic hyperglycinemia | |
| dc.subject.en | Clinical genetics | |
| dc.subject.en | Glycine cleavage system | |
| dc.subject.en | Metabolic disorders | |
| dc.title.en | Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel variant. | |
| dc.title.alternative | Front Genet | en_US |
| dc.type | Article de revue | en_US |
| dc.identifier.doi | 10.3389/fgene.2024.1432272 | en_US |
| dc.subject.hal | Sciences du Vivant [q-bio]/Génétique | en_US |
| dc.identifier.pubmed | 39323869 | en_US |
| bordeaux.journal | Frontiers in Genetics | en_US |
| bordeaux.page | 1432272 | en_US |
| bordeaux.volume | 15 | 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-04829821 | |
| hal.version | 1 | |
| hal.date.transferred | 2024-12-10T15:46:02Z | |
| hal.popular | non | en_US |
| hal.audience | Internationale | en_US |
| hal.export | true | |
| workflow.import.source | pubmed | |
| dc.rights.cc | CC BY | en_US |
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