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L-2-hydroxyglutaric aciduria and brain malignant tumors: A predisposing condition?
Abstract
L-2-hydroxyglutaric aciduria is a rare metabolic encephalopathy displaying a subcortical leukoencephalopathy on MRI. Diagnosis rests on detection of an abnormal accumulation of L-2-hydroxyglutaric acid in body fluids. The authors report on four patients who developed a malignant brain tumor during the course of the disease. This association points to a possible role of L-2-hydroxyglutaric aciduria in predisposing to brain tumorigenesis.
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“A large fraction of children with this disease have developed brain tumors or other types of cancer (Moroni et al., 2004).”
From Cellular Metabolism and Disease: What Do Metabolic Outliers Teach Us? (2012) · cites this paper as Moroni et al., 2004
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References 10 · Cited by 118
Metadata
- Authors
- Moroni, I., Bugiani, M., D’Incerti, L., Maccagnano, C., Rimoldi, M., Bissola, L., Pollo, B., Finocchiaro, G., & Uziel, G.
- Affiliations
- Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
- Venue
- Neurology
- Published
- 2004-05-25
- Volume
- 62
- Issue
- 10
- Pages
- 1882-1884
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W2086557601
- Cited by
- 118
- References
- 10
- Citations by year
- 2026: 5 · 2025: 2 · 2024: 5 · 2023: 3 · 2022: 3 · 2021: 6 · 2020: 5 · 2019: 9 · 2018: 8 · 2017: 7 · 2016: 4 · 2015: 10 · 2014: 7 · 2013: 4 · 2012: 8
- FWCI
- 1.40
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neurology (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, brain tumors, malignant brain tumors, metabolic encephalopathy, cancer susceptibility, MRI findings
- MeSH terms
- Adolescent, Adult, Astrocytoma, Brain Diseases, Metabolic, Brain Neoplasms, Cerebellar Ataxia, Child, Consanguinity, Epilepsy, Female, Frontal Lobe, Genes, Recessive, Glioblastoma, Glutarates, Humans, Male, Oligodendroglioma, Psychomotor Disorders, Temporal Lobe, Fatal Outcome, Neuroectodermal Tumors, Primitive, Disease Progression, Genetic Predisposition to Disease
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