Cited by 292Metabolism and Genetic DisordersAmino Acid Enzymes and MetabolismNeurological diseases and metabolism

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Progress in understanding 2‐hydroxyglutaric acidurias

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Kranendijk, Martijn, Struys, Eduard A., Salomons, Gajja S., Van der Knaap, Marjo S., Jakobs, Cornelis·2012·Journal of Inherited Metabolic Disease

DOI 10.1007/s10545-012-9462-5PMC PMC3388262

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Abstract

The organic acidurias d‐2‐hydroxyglutaric aciduria (D‐2‐HGA), l‐2‐hydroxyglutaric aciduria (L‐2‐HGA), and combined d,l‐2‐hydroxyglutaric aciduria (D,L‐2‐HGA) cause neurological impairment at young age. Accumulation of d‐2‐hydroxyglutarate (D‐2‐HG) and/or l‐2‐hydroxyglutarate (L‐2‐HG) in body fluids are the biochemical hallmarks of these disorders. The current review describes the knowledge gathered on 2‐hydroxyglutaric acidurias (2‐HGA), since the description of the first patients in 1980. We report on the clinical, genetic, enzymatic and metabolic characterization of D‐2‐HGA type I, D‐2‐HGA type II, L‐2‐HGA and D,L‐2‐HGA, whereas for D‐2‐HGA type I and type II novel clinical information is presented which was derived from questionnaires.

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Fig. 1 2-hydroxyglutaric acid with a chiral center at the 2nd carbon (*)CC BY · PubMed Central

Fig. 2 Enantiomers d- and l-2-hydroxyglutaric acid (D-2-HG and L-2-HG, systemic IUPAC names included)CC BY · PubMed Central

Fig. 3 Enzymes L-malDH and HOT are responsible for production of D-2-HG and L-2-HG from 2-KGCC BY · PubMed Central

Fig. 4 Mutations reported in D2HGDH (Misra et al 2005; Struys et al 2005a, b; Haliloglu et al 2009; Kranendijk et al 2010a; Pervaiz et al 2011)CC BY · PubMed Central

Fig. 5 D-2-HG is formed from 2-KG via HOT. D-2-HGDH catalyzes the conversion of D-2-HG to 2-KG. D-2-HG accumulates in D-2-HGA type I patients when D-2-HGDH is impairedCC BY · PubMed Central

Fig. 6 Novel IDH2-mutant gain-of-function produces D-2-HG from 2-KG in addition to production of D-2-HG via HOT. It is hypothesized that D-2-HGDH cannot fully metabolize all of the generated D-2-HG, resulting in D-2-HG accumulation in D-2-HGA type IICC BY · PubMed Central

Fig. 7 L-2-HG is formed via the non-specific interaction of L-malDH with 2-KG using NADH. The “enzyme of metabolite repair” L-2-HGDH catalyzes the interconversion of L-2-HG to 2-KG using FAD as cofactor. L-2-HG accumulates in L-2-HGA patients when L-2-HGDH is impairedCC BY · PubMed Central

Fig. 8 Diagnostic flow chart for 2-hydroxyglutaric aciduriasCC BY · PubMed Central

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Authors: Kranendijk, M., Struys, E. A., Salomons, G. S., Van der Knaap, M. S., & Jakobs, C.
Affiliations: Amsterdam UMC Location Vrije Universiteit Amsterdam (NL)
Paediatric Neurology VU University Medical Center Amsterdam The Netherlands
Corresponding author: Jakobs, Cornelis
ORCID: Struys, Eduard A.
Salomons, Gajja S.
Jakobs, Cornelis
Venue: Journal of Inherited Metabolic Disease
Publisher: Wiley
Published: 2012-03-06
Volume: 35
Issue: 4
Pages: 571-587
ISSN: 0141-8955 (ISSN-L)
1573-2665
DOI: 10.1007/s10545-012-9462-5
PMC: PMC3388262
OpenAlex: W2058747828
Cited by: 292
References: 93
Citations by year: 2026: 11 · 2025: 14 · 2024: 33 · 2023: 20 · 2022: 29 · 2021: 23 · 2020: 20 · 2019: 22 · 2018: 16 · 2017: 14 · 2016: 22 · 2015: 27 · 2014: 15 · 2013: 15 · 2012: 10
FWCI: 2.56
Type: journal article
Language: en
Open access: hybrid
doi.org
Licence: cc-by
creativecommons.org/licenses/by/4.0/ (vor)
Locations: Journal of Inherited Metabolic Disease (publishedVersion, cc-by)
Europe PMC (PubMed Central) (publishedVersion, cc-by)
PubMed Central (publishedVersion, cc-by)
PubMed (publishedVersion)
Pure Amsterdam UMC (publishedVersion)
Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
VU Research Portal (publishedVersion, other-oa)
Data Archiving and Networked Services (DANS) (submittedVersion)
Digital Academic REpository of VU University Amsterdam (Vrije Universiteit Amsterdam) (submittedVersion)
Data Archiving and Networked Services (DANS) (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 › Neuroscience › Neurology › Neurological diseases and metabolism
Keywords: L-2-hydroxyglutaric aciduria, D-2-hydroxyglutarate, L-2-hydroxyglutarate, organic aciduria, neurological deficit, genetic characterization, enzyme characterization, metabolic characterization, clinical features, patient survey
MeSH terms: Humans, Nervous System Diseases, Brain Diseases, Metabolic, Inborn

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