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

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

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

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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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Authors: Aghili, M., Zahedi, F., & Rafiee, E.
Affiliations: Imam Khomeini Hospital (IR)
Corresponding author: Aghili, Mahdi
ORCID: Aghili, Mahdi
Venue: Journal of Neuro-Oncology
Publisher: Springer Science and Business Media LLC
Published: 2008-10-18
Volume: 91
Issue: 2
Pages: 233-236
ISSN: 0167-594X (ISSN-L)
1573-7373
DOI: 10.1007/s11060-008-9706-2
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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Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review

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