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Article

Riboflavin treatment in L-2-hydroxyglutaric aciduria: report on a pediatric patient and literature review.

Journal of applied genetics - 1 May 2026

Lipiński Patryk, Ciara Elżbieta, Bogdańska Anna, Jurkiewicz Elżbieta, Tylki-Szymańska Anna

Abstract excerpt

L-2-hydroxyglutaric aciduria (L-2-HGA, #236,792) is an autosomal recessive neurodegenerative disorder caused by the deficiency of L-2-hydroxyglutarate dehydrogenase, a flavin adenine dinucleotide (FAD)-dependent enzyme, due to biallelic pathogenic variants in the L2HGDH gene. The present study described the patient with L2HGA presenting with a slight psychomotor delay, epilepsy from 5 years of age,...

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Identifiers

PMID: 40380983
DOI: 10.1007/s13353-025-00974-4
PMCID: PMC13079483

Genes

L2HGDH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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