Cited by 159Metabolism and Genetic DisordersGlioma Diagnosis and TreatmentAmino Acid Enzymes and Metabolism

Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review

Aghili, Mahdi, Zahedi, Fatemeh, Rafiee, Elham·2009·Journal of Neuro-Oncology

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.

Integrity signals

Registry

Crossref · 10.1007/s11060-008-9706-2

Cites

14 of 14 references verified0 citation errors · 0 not checkable

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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
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
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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