Research & Literature

Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups.

Khangura SD, Tingley K, Chakraborty P, et al.

Journal of inherited metabolic disease 2016; (39(1)):139-47 doi:10.1007/s10545-015-9881-1.

Oncometabolite D-2-Hydroxyglutarate Inhibits ALKBH DNA Repair Enzymes and Sensitizes IDH Mutant Cells to Alkylating Agents.

Wang P, Wu J, Ma S, et al.

Cell reports 2015; (13(11)):2353-2361 doi:10.1016/j.celrep.2015.11.029.

Chiral separation of 2-hydroxyglutaric acid on cinchonan carbamate based weak chiral anion exchangers by high-performance liquid chromatography.

Calderón C, Horak J, Lämmerhofer M

Journal of chromatography. A 2016; (1467()):239-245 doi:10.1016/j.chroma.2016.05.042.

Enantioseparation of d,l-2-hydroxyglutaric acid by capillary electrophoresis with tandem mass spectrometry-Fast and efficient tool for d- and l-2-hydroxyglutaracidurias diagnosis.

Švidrnoch M, Přibylka A, Bekárek V, et al.

Journal of chromatography. A 2016; (1467()):383-390 doi:10.1016/j.chroma.2016.05.095.

A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model.

Wang F, Travins J, Lin Z, et al.

Journal of inherited metabolic disease 2016; (39(6)):807-820 doi:10.1007/s10545-016-9960-y.

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

Reid ES, Papandreou A, Drury S, et al.

Brain : a journal of neurology 2016; (139(11)):2844-2854 doi:10.1093/brain/aww221.

Parents' experiences of living with, and caring for children, adolescents and young adults with Mucopolysaccharidosis (MPS).

Somanadhan S, Larkin PJ

Orphanet journal of rare diseases 2016; (11(1)):138 doi:10.1186/s13023-016-0521-0.

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.

Siddiq S, Wilson BJ, Graham ID, et al.

Orphanet journal of rare diseases 2016; (11(1)):168 doi:10.1186/s13023-016-0548-2.

ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants.

Patel RY, Shah N, Jackson AR, et al.

Genome medicine 2017; (9(1)):3 doi:10.1186/s13073-016-0391-z.

Cardiac manifestations of inherited metabolic disease in children.

Lloyd DF, Vara R, Mathur S

Pediatrics international : official journal of the Japan Pediatric Society 2017; (59(5)):525-529 doi:10.1111/ped.13272.

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.

A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion.

Cohen I, Staretz-Chacham O, Wormser O, et al.

American journal of medical genetics. Part A 2018; (176(2)):330-336 doi:10.1002/ajmg.a.38574.

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.

Pop A, Williams M, Struys EA, et al.

Journal of inherited metabolic disease 2018; (41(2)):169-180 doi:10.1007/s10545-017-0106-7.

Organic acidurias in adults: late complications and management.

Tuncel AT, Boy N, Morath MA, et al.

Journal of inherited metabolic disease 2018; (41(5)):765-776 doi:10.1007/s10545-017-0135-2.

Beyond Brooding on Oncometabolic Havoc in IDH-Mutant Gliomas and AML: Current and Future Therapeutic Strategies.

Madala HR, Punganuru SR, Arutla V, et al.

Cancers 2018; (10(2)) doi:10.3390/cancers10020049.

D-2-Hydroxyglutarate Is Necessary and Sufficient for Isocitrate Dehydrogenase 1 Mutant-Induced MIR148A Promoter Methylation.

Li T, Cox CD, Ozer BH, et al.

Molecular cancer research : MCR 2018; (16(6)):947-960 doi:10.1158/1541-7786.MCR-17-0367.

[Health and socio-educational needs of the families and children with rare metabolic diseases: Qualitative study in a tertiary hospital].

Tejada-Ortigosa EM, Flores-Rojas K, Moreno-Quintana L, et al.

Anales de pediatria 2019; (90(1)):42-50 doi:10.1016/j.anpedi.2018.03.003.

Quantitation of plasma and urine 3-hydroxyglutaric acid, after separation from 2-hydroxyglutaric acid and other compounds of similar ion transition, by liquid chromatography-tandem mass spectrometry for the confirmation of glutaric aciduria type 1.

Simon GA, Wierenga A

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2018; (1097-1098()):101-110 doi:10.1016/j.jchromb.2018.09.007.

Clinical Utility of Reinterpreting Previously Reported Genomic Epilepsy Test Results for Pediatric Patients.

SoRelle JA, Thodeson DM, Arnold S, et al.

JAMA pediatrics 2019; (173(1)):e182302 doi:10.1001/jamapediatrics.2018.2302.

Modeling and simulation of the endogenous CYP3A induction marker 4β-hydroxycholesterol during enasidenib treatment.

Li Y, Connarn JN, Chen J, et al.

Clinical pharmacology : advances and applications 2019; (11()):39-50 doi:10.2147/CPAA.S192687.

D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.

Pop A, Struys EA, Jansen EEW, et al.

Human mutation 2019; (40(7)):975-982 doi:10.1002/humu.23751.

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.

IDH1 mutated acute myeloid leukemia in a child with metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria.

Srinivasan A, Zhou Y, Scordino T, et al.

Pediatric hematology and oncology 2020; (37(5)):431-437 doi:10.1080/08880018.2020.1737284.

Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics.

Gariani K, Nascimento M, Superti-Furga A, Tran C

Orphanet journal of rare diseases 2020; (15(1)):210 doi:10.1186/s13023-020-01471-z.

Seizures and early onset dementia: D2HGA1 inborn error of metabolism in adults.

Tabarestani S, Varriano B, Rawal S, et al.

Annals of clinical and translational neurology 2020; (7(10)):2052-2056 doi:10.1002/acn3.51162.

Inherited Disorders of Lysine Metabolism: A Review.

Bouchereau J, Schiff M

The Journal of nutrition 2020; (150(Suppl 1)):2556S-2560S doi:10.1093/jn/nxaa112.

Structure, substrate specificity, and catalytic mechanism of human D-2-HGDH and insights into pathogenicity of disease-associated mutations.

Yang J, Zhu H, Zhang T, Ding J

Cell discovery 2021; (7(1)):3 doi:10.1038/s41421-020-00227-0.

Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D-2-hydroxyglutaric aciduria.

Perales-Clemente E, Hewitt AL, Studinski AL, et al.

JIMD reports 2021; (58(1)):21-28 doi:10.1002/jmd2.12188.

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.

Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey.

Chow AJ, Pugliese M, Tessier LA, et al.

The patient 2022; (15(2)):171-185 doi:10.1007/s40271-021-00538-8.

Diagnostic approach in adult-onset neurometabolic diseases.

Fernández-Eulate G, Carreau C, Benoist JF, et al.

Journal of neurology, neurosurgery, and psychiatry 2022; (93(4)):413-421 doi:10.1136/jnnp-2021-328045.

Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives.

Tumienė B, Del Toro Riera M, Grikiniene J, et al.

Journal of multidisciplinary healthcare 2022; (15()):553-566 doi:10.2147/JMDH.S251863.

A simple method modification to increase separation of 2- and 3-hydroxyglutaric acid by GC-MS for clinical urine organic acids analysis.

Dubland JA, Sinclair G, Vallance H, Rakić B

Clinical biochemistry 2022; (105-106()):81-86 doi:10.1016/j.clinbiochem.2022.04.016.

Acute myeloid leukemia and dilated cardiomyopathy in a pediatric patient with D-2-hydroxyglutaric aciduria type I.

Murphey K, George PE, Pencheva B, et al.

American journal of medical genetics. Part A 2022; (188(9)):2707-2711 doi:10.1002/ajmg.a.62891.

Targeted therapy with the mutant IDH2 inhibitor enasidenib for high-risk IDH2-mutant myelodysplastic syndrome.

DiNardo CD, Venugopal S, Lachowiez C, et al.

Blood advances 2023; (7(11)):2378-2387 doi:10.1182/bloodadvances.2022008378.

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.

Boy N, Mühlhausen C, Maier EM, et al.

Journal of inherited metabolic disease 2023; (46(3)):482-519 doi:10.1002/jimd.12566.

Disruption of mitochondrial bioenergetics, calcium retention capacity and cell viability caused by D-2-hydroxyglutaric acid in the heart.

Ribeiro RT, Roginski AC, Marschner RA, et al.

Biochimie 2023; (207()):153-164 doi:10.1016/j.biochi.2022.11.004.

Development and validation of an LC-MS/MS method for D- and L-2-hydroxyglutaric acid measurement in cerebrospinal fluid, urine and plasma: application to glioma.

Dal-Bekar NE, Tuna G, Islekel S, Islekel GH

Bioanalysis 2022; (14(19)):1271-1280 doi:10.4155/bio-2022-0168.

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.

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

Geoerger B, Schiff M, Penard-Lacronique V, et al.

Nature medicine 2023; (29(6)):1358-1363 doi:10.1038/s41591-023-02382-9.

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.

Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.

Gedikbasi A, Toksoy G, Karaca M, et al.

Frontiers in genetics 2023; (14()):1191159 doi:10.3389/fgene.2023.1191159.

A Review of Disparities and Unmet Newborn Screening Needs over 33 Years in a Cohort of Mexican Patients with Inborn Errors of Intermediary Metabolism.

Ibarra-González I, Fernández-Lainez C, Vela-Amieva M, et al.

International journal of neonatal screening 2023; (9(4)) doi:10.3390/ijns9040059.

Moyamoya Angiopathy: An Underdiagnosed Cause of Ischemic Stroke in a Tunisian Pediatric Cohort.

Bouchaala W, Laroussi S, Mzid Y, et al.

Pediatric neurology 2024; (150()):3-9 doi:10.1016/j.pediatrneurol.2023.09.017.

Sweet ending: When genetics prevent a dramatic CDG diagnostic mistake.

Civit A, Gueguen P, Blasco H, et al.

Clinica chimica acta; international journal of clinical chemistry 2023; (551()):117620 doi:10.1016/j.cca.2023.117620.

Moyamoya syndrome in a patient with D-2-hydroxyglutaric aciduria type II: a rare association.

Kühnl T, Januschek E, Offenbach SK

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2024; (40(7)):2241-2244 doi:10.1007/s00381-024-06340-9.

Enasidenib-induced hepatitis in an individual with Type II D2-hydroxyglutaric aciduria.

Gold JI, Stefanatos AK, Fraser JL, et al.

JIMD reports 2024; (65(3)):156-162 doi:10.1002/jmd2.12421.

Enhanced differentiation between 3-hydroxyglutaric and 2-hydroxyglutaric acids facilitates diagnostic testing for glutaric aciduria type 1.

Cyr D, Boutin M, Maranda B, Waters PJ

JIMD reports 2024; (65(6)):433-441 doi:10.1002/jmd2.12447.

Protective effects of the PPAR agonist bezafibrate against disruption of redox and energy homeostasis, neuronal death, astroglial reactivity, and neuroinflammation induced in vivo by D-2-hydroxyglutaric acid in rat brain.

Ribeiro RT, Marcuzzo MB, Carvalho AVS, et al.

European journal of pharmacology 2025; (987()):177186 doi:10.1016/j.ejphar.2024.177186.

I've Never Heard of This! An Approach to Child and Family-Centred Care for Children and Young People With Rare Diseases.

Ewans LJ, Pierce K, Farley E, et al.

Journal of paediatrics and child health 2025; doi:10.1111/jpc.70267.

Successful Treatment of 2-Hydroxyglutaric Aciduria Diagnosed in Adulthood, Three Decades after the Onset: A Case Report and Literature Review.

Matsuzono K, Koide R, Fujimoto S

Internal medicine (Tokyo, Japan) 2026; (65(15)):2118-2123 doi:10.2169/internalmedicine.6360-25.

The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study.

Chow AJ, Jordan I, Pallone N, et al.

Orphanet journal of rare diseases 2026; (21(1)).

Examining the role of social workers within clinical metabolic genetics care.

Shim S, Cory D, Wixson G, et al.

Molecular genetics and metabolism reports 2026; (48()):101326 doi:10.1016/j.ymgmr.2026.101326.