Loss of function variants in L2HGDH gene causing L-2-hydroxyglutaric aciduria.
Anikha BelladVikram V HollaRiyanka KumariNitish KambleRavi YadavAkhilesh PandeyPramod Kumar PalBabylakshmi MuthusamyPublished in: Acta neurologica Belgica (2023)
This study identified novel pathogenic variants in the L2HGDH gene in patients with L2HGA. These findings contribute to the understanding of the genetic basis of L2HGA and highlight the importance of genetic testing for diagnosis and genetic counseling of affected families.