Research & Literature

In vivo intracerebral administration of L-2-hydroxyglutaric acid provokes oxidative stress and histopathological alterations in striatum and cerebellum of adolescent rats.

da Rosa MS, João Ribeiro CA, Seminotti B, et al.

Free radical biology & medicine 2015; (83()):201-13.

A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair.

Rzem R, Achouri Y, Marbaix E, et al.

PloS one 2015; (10(3)):e0119540 doi:10.1371/journal.pone.0119540.

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.

Boycott K, Hartley T, Adam S, et al.

Journal of medical genetics 2015; (52(7)):431-7 doi:10.1136/jmedgenet-2015-103144.

Plants Possess a Cyclic Mitochondrial Metabolic Pathway similar to the Mammalian Metabolic Repair Mechanism Involving Malate Dehydrogenase and l-2-Hydroxyglutarate Dehydrogenase.

Hüdig M, Maier A, Scherrers I, et al.

Plant & cell physiology 2015; (56(9)):1820-30 doi:10.1093/pcp/pcv108.

In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduria.

Anghileri E, Bertolino N, Salsano E, et al.

Brain research 2016; (1648(Pt A)):506-511 doi:10.1016/j.brainres.2016.08.013.

Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays.

Zurynski Y, Deverell M, Dalkeith T, et al.

Orphanet journal of rare diseases 2017; (12(1)):68 doi:10.1186/s13023-017-0622-4.

Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk.

Villani A, Greer MC, Kalish JM, et al.

Clinical cancer research : an official journal of the American Association for Cancer Research 2017; (23(12)):e83-e90 doi:10.1158/1078-0432.CCR-17-0631.

Intraventricular Glioblastoma Multiforme in A Child with L2-Hydroxyglutaric Aciduria.

Tan AP, Mankad K

World neurosurgery 2018; (110()):288-290 doi:10.1016/j.wneu.2017.11.106.

Newborn screening: A disease-changing intervention for glutaric aciduria type 1.

Boy N, Mengler K, Thimm E, et al.

Annals of neurology 2018; (83(5)):970-979 doi:10.1002/ana.25233.

A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review.

Zhang Y, Wang C, Yang K, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2018; (39(10)):1697-1703 doi:10.1007/s10072-018-3483-2.

D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene.

Phillips E, Sasarman F, Sinasac DS, Al-Hertani W

Molecular genetics and metabolism reports 2019; (20()):100482 doi:10.1016/j.ymgmr.2019.100482.

Findings on serial MRI in a childhood case of L2-hydroxyglutaric aciduria.

Kular S

Radiology case reports 2020; (15(1)):59-64 doi:10.1016/j.radcr.2019.09.035.

Cerebral neoplasm in L-2-hydroxyglutaric aciduria: two different presentations.

Dilber B, Havalı C, Eroglu N, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2020; (36(7)):1545-1548 doi:10.1007/s00381-019-04466-9.

A 7-year-old Boy with Hand Tremors and a Novel Mutation for L-2-hydroxyglutaric Aciduria.

Olgac A, Tekin OL, Ezgü FS, et al.

Balkan journal of medical genetics : BJMG 2019; (22(2)):93-96 doi:10.2478/bjmg-2019-0015.

Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients.

Gürbüz BB, Yılmaz DY, Coşkun T, et al.

European journal of medical genetics 2020; (63(11)):104032 doi:10.1016/j.ejmg.2020.104032.

Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria.

Zübarioğlu T, Yalçınkaya C, Oruç Ç, et al.

Turk pediatri arsivi 2020; (55(3)):290-298 doi:10.14744/TurkPediatriArs.2019.06926.

Quantitative Analysis of Oncometabolite 2-Hydroxyglutarate.

Yuan BF

Advances in experimental medicine and biology 2021; (1280()):161-172 doi:10.1007/978-3-030-51652-9_11.

Attention deficit hyperactivity disorder: a rare clinical presentation of L-2-hydroxyglutaric aciduria.

George J, Sandhya P, Sajitha KV, Sundaram S

BMJ case reports 2021; (14(7)) doi:10.1136/bcr-2021-244038.

Postural tremor in L-2-hydroxyglutaric aciduria is associated with cerebellar atrophy.

Gunduz A, Aktuglu-Zeybek AC, Tezer D, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022; (43(3)):2051-2058 doi:10.1007/s10072-021-05555-x.

A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family.

Muzammal M, Ali MZ, Brugger B, et al.

Metabolic brain disease 2022; (37(1)):243-252 doi:10.1007/s11011-021-00832-2.

Mental health care for rare disease in the UK - recommendations from a quantitative survey and multi-stakeholder workshop.

Spencer-Tansley R, Meade N, Ali F, et al.

BMC health services research 2022; (22(1)):648 doi:10.1186/s12913-022-08060-9.

Long-term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening.

Mütze U, Garbade SF, Gleich F, et al.

Journal of inherited metabolic disease 2023; (46(1)):15-27 doi:10.1002/jimd.12563.

The Challenge of Severe Acute Malnutrition in Inborn Errors of Metabolism: Does Medical Food Alone Suffice?

Singanamalla B, Paria P, Suthar R, et al.

Journal of pediatric genetics 2023; (12(2)):175-178 doi:10.1055/s-0041-1739288.

L-2-hydroxyglutaric aciduria - review of literature and case series.

Ahmed S, Siddiqui A, DeBerardinis RJ, et al.

Annals of medicine and surgery (2012) 2023; (85(4)):712-717 doi:10.1097/MS9.0000000000000326.

Separation and quantification of the urinary enantiomers of 2-hydroxyglutaric acid by capillary electrophoresis with capacitively coupled contactless conductivity detection: Application to the diagnosis of D- and L-2-hydroxyglutaric aciduria.

Cansever MŞ, Öztekin N, Kıykım E, et al.

Journal of separation science 2023; (46(16)):e2300145 doi:10.1002/jssc.202300145.

Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey.

Bozaci AE, Er E, Ünal AT, et al.

Molecular genetics and metabolism reports 2023; (36()):100979 doi:10.1016/j.ymgmr.2023.100979.

Loss of function variants in L2HGDH gene causing L-2-hydroxyglutaric aciduria.

Bellad A, Holla VV, Kumari R, et al.

Acta neurologica Belgica 2023; (123(6)):2315-2323 doi:10.1007/s13760-023-02318-7.

Structure and biochemical characterization of l-2-hydroxyglutarate dehydrogenase and its role in the pathogenesis of l-2-hydroxyglutaric aciduria.

Yang J, Chen X, Jin S, Ding J

The Journal of biological chemistry 2024; (300(1)):105491 doi:10.1016/j.jbc.2023.105491.

Ultra-rare ultra-care: Assessing the impact of caring for children with ultra rare diseases.

Domaradzki J, Walkowiak D

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2024; (48()):78-84 doi:10.1016/j.ejpn.2023.12.003.

Spectrum of Organic Aciduria Diseases in Tunisia: A 35-year Retrospective Study.

Jelassi A, Nasrallah F, Talbi E, et al.

Saudi journal of medicine & medical sciences 2024; (12(1)):27-34 doi:10.4103/sjmms.sjmms_437_23.

Late-onset cerebellar ataxia and a new frameshift L2HGDH mutation in a Chinese adult with L-2-hydroxyglutaric aciduria: a case report.

Ding S, Yajun E, He Y

Acta neurologica Belgica 2024; (124(4)):1233-1236 doi:10.1007/s13760-024-02514-z.

Deep Brain Stimulation of the Globus Pallidus Internus in a Child with Refractory Dystonia due to L2-Hydroxyglutaric Aciduria.

Alamri A, Breitbart S, Warsi N, et al.

Stereotactic and functional neurosurgery 2024; (102(4)):209-216 doi:10.1159/000538418.

Malignant glioma in L-2-Hydroxyglutaric Aciduria: thorough molecular characterization of a case and literature review.

Cordier F, Wesseling P, Tops BBJ, et al.

Free neuropathology 2024; (5()):11 doi:10.17879/freeneuropathology-2024-5377.

The broad spectrum of clinical manifestations observed in three patients with L2 hydroxyglutaric aciduria spans from febrile seizures to complex dystonia.

Alsayed A, Albadrani M, Obaid A, et al.

Molecular genetics and metabolism reports 2024; (41()):101135 doi:10.1016/j.ymgmr.2024.101135.

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

Lipiński P, Ciara E, Bogdańska A, et al.

Journal of applied genetics 2026; (67(2)):443-449 doi:10.1007/s13353-025-00974-4.

Genetic, neuroimaging, and clinical characteristics of a cohort of individuals with L-2-hydroxyglutaric aciduria from Türkiye.

Engin Erdal A, Özbey SZ, Civelek Ürey GB, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2025; (38(9)):956-963 doi:10.1515/jpem-2025-0021.

A Pathogenic L2HGDH Variant Impairs Mitochondrial Targeting and Enzyme Function in L-2-Hydroxyglutaric Aciduria: Clinical and Functional Evidence from Two Affected Siblings.

Guo Q, Löhr T, Giavalisco P, et al.

Genes 2025; (16(8)) doi:10.3390/genes16080982.

Subtle clinical and radiological findings as potential indicators of CNS tumors in L-2-hydroxyglutaric aciduria: a literature review.

Bıyık MO, Aktoklu M, Topsakal AS, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2026; (47(5)).

Mitochondrial L-2-hydroxyglutarate is a physiological signalling metabolite.

Chakrabarty RP, Van Vranken JG, Aoi Y, et al.

Nature 2026; (655(8124)):1037-1047 doi:10.1038/s41586-026-10564-x.

L-2-Hydroxyglutaric Aciduria Due to the Homozygous Variant c.905C>T in L2HGDH Without Cognitive Deficits or Gait Disturbance: A Case Report.

Finsterer J, Barwari A

Cureus 2026; (18(4)):e107757 doi:10.7759/cureus.107757.

The expected utility and psychological impacts of exome sequencing results in the DDD-Africa study.

Schnell S, Goliath Z, Shingwenyana B, et al.

Journal of genetic counseling 2026; (35(3)):e70251 doi:10.1002/jgc4.70251.

Chromosome 22q11.2 Microduplication Syndrome: A Review of the Literature and 12 New Cases.

Bisba M, Louizou E, Vittas S

Genes 2026; (17(7)) doi:10.3390/genes17070844.

Characteristics of glioma in L-2-Hydroxyglutaric Aciduria: a case report and literature review.

Lutz C, Barritault M, Vasiljevic A, et al.

Neuro-Chirurgie 2026; (72(5)):101869 doi:10.1016/j.neuchi.2026.101869.

Non-convulsive Status Epilepticus in L-2-Hydroxyglutaric Aciduria With a Novel L2HGDH Variant: A Case Report.

Mittal S, Rajeevan S, Gopinath S, Raman A

Cureus 2026; (18(8)):e114093 doi:10.7759/cureus.114093.