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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Adolescent
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Adult
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Astrocytoma / genetics*
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Brain Diseases, Metabolic / genetics*
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Brain Diseases, Metabolic / urine
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Brain Neoplasms / genetics*
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Cerebellar Ataxia / genetics
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Child
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Consanguinity
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Disease Progression
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Epilepsy / genetics
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Fatal Outcome
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Female
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Frontal Lobe*
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Genes, Recessive
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Genetic Predisposition to Disease
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Glioblastoma / genetics*
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Glutarates / urine*
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Humans
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Male
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Neuroectodermal Tumors, Primitive / genetics*
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Oligodendroglioma / genetics
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Psychomotor Disorders / genetics
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Temporal Lobe
Substances
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Glutarates
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alpha-hydroxyglutarate