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A gene encoding a putative FAD-dependent l -2-hydroxyglutarate dehydrogenase is mutated in l -2-hydroxyglutaric aciduria
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The purpose of this study was to identify the biochemical and genetic defect in l -2-hydroxyglutaric aciduria, a neurometabolic disorder characterized by the presence of elevated concentrations of l -2-hydroxyglutaric acid in urine, plasma, and cerebrospinal fluid. Evidence is provided for the existence in rat tissues of a FAD-dependent enzyme catalyzing specifically the oxidation of l -2-hydroxyglutarate to α-ketoglutarate. This enzyme is mainly expressed in liver and kidney but also at lower levels in heart, brain, and other tissues. Subcellular fractionation indicates that the liver enzyme is present in mitochondria, where it is bound to membranes. Based on this information, a database search led to the identification of a gene encoding a human hypothetical protein homologous to bacterial FAD-dependent malate dehydrogenases and targeted to mitochondria. The gene encoding this protein, present on chromosome 14q22.1, was found to be in a region homozygous in patients with l -2-hydroxyglutaric aciduria from two consanguineous families. Three mutations that replaced a highly conserved residue (Lys-71-Glu and Glu-176-Asp) or removed exon 9 were identified in homozygous state in patients from three distinct families and were found to cosegregate with the disease. It is concluded that l -2-hydroxyglutarate is normally metabolized to α-ketoglutarate in mammalian tissues and that l -2-hydroxyglutaric aciduria is caused by mutations in the gene that most likely encodes l -2-hydroxyglutarate dehydrogenase. The pathological findings observed in this metabolic disorder must therefore be due to a toxic effect of l -2-hydroxyglutarate on the central nervous system.
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“D-2-HG produced by mIDH1/2 has been shown to drive a CpG island methylator phenotype (G-CIMP) in both glioma and ICC tumours to promote tumorigenesis, and has also been found to occupy the active site of histone demethylases thereby increasing histone methylation in primary gliomas121,123-125.”
From Coupling Krebs cycle metabolites to signalling in immunity and cancer (2018) · cites this paper as [123]
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“D-2-HG produced by mIDH1/2 has been shown to drive a CpG island methylator phenotype (G-CIMP) in both glioma and ICC tumours to promote tumorigenesis, and has also been found to occupy the active site of histone demethylases thereby increasing histone methylation in primary gliomas121,123-125.”
From Coupling Krebs cycle metabolites to signalling in immunity and cancer (2018) · cites this paper as [123]
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Rodrigues, D. G. B., & Vargas, C. R. (2016) · Clinical & Biomedical Research · doi:10.4322/2357-9730.61060
Balduf, H., Pepe, A., & Kirchmaier, A. L. (2016) · Methods in pharmacology and toxicology · doi:10.1007/978-1-4939-6743-8_5
Kumar, S., Bhatia, S., Surya, M., & Sharma, S. K. (2019) · Annals of Indian Academy of Neurology · doi:10.4103/aian.aian_385_18
A fluorescent l-2-hydroxyglutarate biosensorPreprint
Kang, Z., Zhang, M., Gao, K., Zhang, W., Liu, Y., Xiao, D., Guo, S., Ma, C., Gao, C., & Xu, P. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.07.07.187567
L-2-Hydroxyglutaric Aciduria: An Ever-Expanding Phenotypic Spectrum
Kamath, S. D., Bhat, M. D., Santhosh, V., Arunachal, G., Prabhuraj, A. R., Kulanthaivelu, K., Ahmed, S., Asranna, A., & Kenchaiah, R. (2023) · Annals of Indian Academy of Neurology · doi:10.4103/aian.aian_106_23
Inborn glycolytic pathway defects
Rocha, H. (2023) · Elsevier eBooks · doi:10.1016/b978-0-323-91704-9.00001-x
Ding, S.-Q., Yajun, E., & He, Y. (2024) · Acta Neurologica Belgica · doi:10.1007/s13760-024-02514-z
Novel neuropathological findings in a long-term survivor of D-2-hydroxyglutaric aciduria type 1
Tanikawa, S., Andrade, D. M., Rogaeva, E. A., Tartaglia, M. C., & Kovács, G. G. (2024) · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · doi:10.1007/s00428-024-03868-8
SCHAFTINGEN, E. V., Peracchi, A., & Veiga‐da‐Cunha, M. (2025) · Analytical Biochemistry · doi:10.1016/j.ab.2025.116032 · Cited by 1
Self-citationMeng, Z., Zhen, B., Yuan, K., Song, J., Zhang, Y., Cheah, J. H., Jiang, W., Skepner, A., Leahy, K. J., Ounis, I., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.03.03.707476
Metabolite Damage and Repair in Health and Disease
Linster, C. L., Veiga‐da‐Cunha, M., Niehaus, T. D., Bommer, G. T., & SCHAFTINGEN, E. V. (2026) · Annual Review of Nutrition · doi:10.1146/annurev-nutr-062024-123639
Self-citationCharacteristics of glioma in L-2-Hydroxyglutaric Aciduria: a case report and literature review
Lutz, C., Barritault, M., Vasiljevic, A., Cakmak, S., Chambost, A. J., Sadr, A. B., Gallet, C., Meyronet, D., Ducray, F., & Picart, T. (2026) · Neurochirurgie · doi:10.1016/j.neuchi.2026.101869
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Giri, S., & Kundu, A. (2026) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2026.110233
Organic acid, amino acids, and peroxisomal disorders
Donati, M. A., Gasperini, S., & Guerrini, R. (2011) · Cambridge University Press eBooks · doi:10.1017/cbo9780511921001.033
Metadata
- Authors
- Rzem, R., Veiga-da-Cunha, M., Noël, G., Goffette, S., Nassogne, M.-C., Tabarki, B., Schöller, C., Marquardt, T., Vikkula, M., & Van Schaftingen, E.
- Affiliations
- Laboratories of Physiological Chemistry and Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology, Université Catholique de Louvain, Avenue Hippocrate 75, B-1200 Brussels, Belgium; Services de Neurologie and Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, Avenue Hippocrate 10, B-1200 Brussels, Belgium; Service de Pédiatrie, Hôpital Farhat Hached, 4000 Sousse, Tunisia; and Klinik für Kinderund Jugendmedizin, Universitätsklinikum Münster, 48149 Münster, Germany
- Cliniques Universitaires Saint-Luc (BE)
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2004-11-17
- Volume
- 101
- Issue
- 48
- Pages
- 16849-16854
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC534725
- OpenAlex
- W2064848673
- Cited by
- 195
- References
- 26
- Citations by year
- 2026: 8 · 2025: 9 · 2024: 13 · 2023: 9 · 2022: 12 · 2021: 10 · 2020: 7 · 2019: 10 · 2018: 10 · 2017: 12 · 2016: 7 · 2015: 9 · 2014: 11 · 2013: 3 · 2012: 10
- FWCI
- 3.05
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- DIAL (Catholic University of Leuven) (submittedVersion, other-oa)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Amino Acid Enzymes and Metabolism
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Biochemical Acid Research Studies
- Keywords
- L-2-hydroxyglutaric aciduria, FAD-dependent enzyme, alpha-ketoglutarate, mitochondrial enzymes, homozygosity mapping, consanguineous family, missense mutations, exon 9 deletion, neurometabolic disorders
- MeSH terms
- Alcohol Oxidoreductases, Amino Acid Sequence, Flavin-Adenine Dinucleotide, Female, Glutarates, Humans, Male, Molecular Sequence Data, Mutation, Pedigree, Subcellular Fractions, Sequence Homology, Amino Acid
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