Progress in understanding 2‐hydroxyglutaric acidurias
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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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Homozygous L2HGDH mutations in germline transmission cause 2-hydroxyglutaric aciduria (L-2-HGA).
“Homozygous L2HGDH mutations in germline transmission cause a disease named 2-hydroxyglutaric aciduria (L-2-HGA)92.”
From Glutamine reliance in cell metabolism (2020) · cites this paper as [92]
L-2-HGA is an autosomal recessive encephalopathy with onset in childhood that causes developmental delays, epilepsy and cerebellar ataxia.
“L-2-HGA is an autosomal recessive encephalopathy with an onset in childhood that causes developmental delays, epilepsy and cerebellar ataxia, the traditional clinical signs of this condition.”
From Glutamine reliance in cell metabolism (2020) · cites this paper as [92]
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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
- 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
- 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
- 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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