title: L-2-hydroxyglutaric aciduria: a report of 29 patients.
abstract: L-2-hydroxyglutaric aciduria (L2HGA) is a chronic slowly progressive neurodegenerative disease characterized mainly by psychomotor developmental delay and cerebellar dysfunction. We report the clinical, biochemical, and neuroimaging features of 29 patients from 22 families. The mean age at the time of diagnosis was 13.4 years (2.5-32 years). The mean follow-up period of patients was four years (1.5-16 years). The main clinical findings were mental retardation and cerebellar involvement with ataxic gait and intentional tremor. Additional findings were mental retardation, macrocephaly and seizures. Diagnosis was confirmed by increased urinary excretion of L-2-hydroxyglutaric acid in all patients and highly specific magnetic resonance imaging (MRI) pattern showing subcortical leukoencephalopathy with bilateral high signal intensity in dentate nuclei and putamens. During the follow-up period, all patients had a static encephalopathy course. The underlying metabolic defect and the possible role of L-2-hydroxyglutaric acid are studied in a subgroup of these families and under evaluation for publication.
authors.affiliation: Section of Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Meral
authors.initials: M
authors.lastname: Topçu
authors.forename: Omer Faruk
authors.initials: OF
authors.lastname: Aydin
authors.forename: Cengiz
authors.initials: C
authors.lastname: Yalçinkaya
authors.forename: Göknur
authors.initials: G
authors.lastname: Haliloğlu
authors.forename: Sabiha
authors.initials: S
authors.lastname: Aysun
authors.forename: Banu
authors.initials: B
authors.lastname: Anlar
authors.forename: Haluk
authors.initials: H
authors.lastname: Topaloğlu
authors.forename: Güzide
authors.initials: G
authors.lastname: Turanli
authors.forename: Dilek
authors.initials: D
authors.lastname: Yalnizoğlu
authors.forename: Mehmet
authors.initials: M
authors.lastname: Kesimer
authors.forename: Turgay
authors.initials: T
authors.lastname: Coşkun
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D001927:Brain Diseases / Q000209:etiology / Q000523:psychology / Q000652:urine; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D005977:Glutarates / Q000378:metabolism / Q000652:urine*; D006801:Humans; D007223:Infant; D007360:Intelligence; D008279:Magnetic Resonance Imaging; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis / Q000652:urine*; D011859:Radiography
chemical_list: D005977:Glutarates; C019417:alpha-hydroxyglutarate