The Turkish Journal of Pediatrics 2005 , Vol 47 , Num 1
L-2-Hydroxyglutaric aciduria: a report of 29 patients
1Sections of Neurology , Department of Pediatrics, Hacettepe University Faculty of Medicine, Hospital, Ankara
2Department of Pediatric Neurology, Dr. Sami Ulus Children’s Hospital, Ankara
3Department of Neurology, İstanbul University Cerrahpaşa Faculty of Medicine, İstanbul, Turkey
4Sections of Nutrition and Metabolism, Department of Pediatrics, Hacettepe University Faculty of Medicine, Hospital, Ankara
Topçu M, Aydın ÖF, Yalçınkaya C, Haliloğlu G, Aysun S, Anlar B, Topaloğlu H, Turanlı G, Yalnızoğlu D, Kesimer M, Coşkun T. L-2-Hydroxyglutaric aciduria: a report of 29 patients. Turk J Pediatr 2005; 47: 1-7.

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. Keywords : L-2-hydroxyglutaric aciduria, magnetic resonance imaging, biochemical findings

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