MARIN, Victor; LEBRETON, Louis; GUIBET, Claire; MESLI, Samir; REDONNET VERNHET, Isabelle; DEXANT, Mathurin; LAMIREAU, Delphine; ROCHE, Sandrine; GASCHIGNARD, Margaux; DELMAS, Jean; MARGOT, Henri; BAR, Claire

doi:10.3389/fgene.2024.1432272

MARIN, Victor
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]

LEBRETON, Louis
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]

GUIBET, Claire
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
BoRdeaux Institute in onCology [Inserm U1312 - BRIC]

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Article de revue

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Frontiers in Genetics. 2024-09-11, vol. 15, p. 1432272

Résumé en anglais

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.< Réduire

Mots clés en anglais

GLRX5

NKH

Nonketotic hyperglycinemia

Clinical genetics

Glycine cleavage system

Metabolic disorders

URI

https://oskar-bordeaux.fr/handle/20.500.12278/203817

DOI

http://dx.doi.org/10.3389/fgene.2024.1432272

Unités de recherche

Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211

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

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Mots clés en anglais

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