The DOI matches its Crossref record; 14 of the 14 references it cites were found in a registry or an index.
Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review
Abstract
L -2-Hydroxyglutaric aciduria (L -2-OHGA) is a rare autosomal recessive inherited encephalopathy. This inborn error, characterized by psychomotor retardation, progressive ataxia and typical magnetic resonance imaging findings, presents in early infancy. To make a definitive diagnosis, an anomalous accumulation of L -2-hydroxyglutaric acid must be detected in body fluids. Here, we present a 17-year-old boy with L: -2-OHGA who developed an anaplastic ependymoma during the course of this disease. We also present a literature review including seven other patients who developed malignant brain tumors during the course of L -2-OHGA. This correlation may indicate a possible increased risk of brain tumors among patients with L -2-hydroxyglutaric aciduria.
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“Interestingly, patients with L-2-HGA are affected by tumors, including brain tumors93, bone tumors94, and nephroblastoma (Wilms tumor)95.”
From Glutamine reliance in cell metabolism (2020) · cites this paper as [93]
Citations
Cites
L‐2‐Hydroxyglutaric aciduria: an inborn error of metabolism?
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L ‐2‐hydroxyglutaric acidemia: A novel inherited neurometabolic disease
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L-2-hydroxyglutaric aciduria and brain malignant tumors: A predisposing condition?
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PDGF and FGF2 regulate oligodendrocyte progenitor responses to demyelination
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L-2-Hydroxyglutaric aciduria: MRI in seven cases
D’Incerti, L., Farina, L., Moroni, I., Uziel, G., & Savoiardo, M. (1998) · Neuroradiology · doi:10.1007/s002340050673 · Cited by 60
Clinical, biochemical and neuroradiological findings in L -2-hydroxyglutaric aciduria
Moroni, I., D’Incerti, L., Farina, L. M., Rimoldi, M., & Uziel, G. (2000) · Neurological Sciences · doi:10.1007/s100720070104 · Cited by 57
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Mitochondrial TCA cycle metabolites control physiology and disease
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Hypoxia-inducible factors and the response to hypoxic stress
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Metadata
- Authors
- Aghili, M., Zahedi, F., & Rafiee, E.
- Affiliations
- Imam Khomeini Hospital (IR)
- Corresponding author
- Aghili, Mahdi
- ORCID
- Aghili, Mahdi
- Venue
- Journal of Neuro-Oncology
- Published
- 2008-10-18
- Volume
- 91
- Issue
- 2
- Pages
- 233-236
- ISSN
- 0167-594X (ISSN-L)
- 1573-7373
- OpenAlex
- W2151358436
- Cited by
- 159
- References
- 14
- Citations by year
- 2025: 2 · 2024: 5 · 2023: 4 · 2022: 5 · 2021: 3 · 2020: 3 · 2019: 7 · 2018: 12 · 2017: 8 · 2016: 8 · 2015: 7 · 2014: 10 · 2013: 12 · 2012: 18
- FWCI
- 12.19
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Journal of Neuro-Oncology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Oncology › Glioma Diagnosis and Treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Amino Acid Enzymes and Metabolism
- Keywords
- L-2-hydroxyglutaric aciduria, malignant brain tumors, anaplastic ependymoma, inborn errors of metabolism, brain tumor risk, psychomotor retardation, ataxia
- MeSH terms
- Adolescent, Ependymoma, Frontal Lobe, Humans, Hydroxy Acids, Magnetic Resonance Imaging, Male, Brain Diseases, Metabolic, Inborn
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