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Article

Enasidenib treatment in two individuals with D-2-hydroxyglutaric aciduria carrying a germline IDH2 mutation.

Nature medicine - 1 Jun 2023

Geoerger Birgit, Schiff Manuel, Penard-Lacronique Virginie, Darin Niklas, Saad Selim-Maria, Duchon Clarisse, Lamazière Antonin, Desmons Aurore, Pontoizeau Clément, Berlanga Pablo, Ducassou Stéphane, Yen Katharine, Su Michael, Schenkein David, Ottolenghi Chris, De Botton Stéphane

Abstract excerpt

D-2-hydroxyglutaric aciduria type II (D2HGA2) is a severe inborn disorder of metabolism caused by heterozygous R140 mutations in the IDH2 (isocitrate dehydrogenase 2) gene. Here we report the results of treatment of two children with D2HGA2, one of whom exhibited severe dilated cardiomyopathy, with the selective mutant IDH2 enzyme inhibitor enasidenib. In both children, enasidenib treatment led to normalization...

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Identifiers

PMID: 37248298
DOI: 10.1038/s41591-023-02382-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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