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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Patients with L-2-HGA are affected by tumors, including brain tumors, bone tumors, and nephroblastoma (Wilms tumor).
“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]
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- 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 › Genetics › 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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