title: 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.
authors.affiliation: Department of Child Neurology, National Neurological Institute C. Besta, Milan, Italy.
authors.forename: I
authors.initials: I
authors.lastname: Moroni
authors.forename: M
authors.initials: M
authors.lastname: Bugiani
authors.forename: L
authors.initials: L
authors.lastname: D'Incerti
authors.forename: C
authors.initials: C
authors.lastname: Maccagnano
authors.forename: M
authors.initials: M
authors.lastname: Rimoldi
authors.forename: L
authors.initials: L
authors.lastname: Bissola
authors.forename: B
authors.initials: B
authors.lastname: Pollo
authors.forename: G
authors.initials: G
authors.lastname: Finocchiaro
authors.forename: G
authors.initials: G
authors.lastname: Uziel
mesh_terms: D000293:Adolescent; D000328:Adult; D001254:Astrocytoma / Q000235:genetics*; D001928:Brain Diseases, Metabolic / Q000235:genetics* / Q000652:urine; D001932:Brain Neoplasms / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000235:genetics; D002648:Child; D003241:Consanguinity; D018450:Disease Progression; D004827:Epilepsy / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D005625:Frontal Lobe; D005808:Genes, Recessive; D020022:Genetic Predisposition to Disease; D005909:Glioblastoma / Q000235:genetics*; D005977:Glutarates / Q000652:urine*; D006801:Humans; D008297:Male; D018242:Neuroectodermal Tumors, Primitive / Q000235:genetics*; D009837:Oligodendroglioma / Q000235:genetics; D011596:Psychomotor Disorders / Q000235:genetics; D013702:Temporal Lobe
chemical_list: D005977:Glutarates; C019417:alpha-hydroxyglutarate