title: [L-2-hydroxyglutaric aciduria: report on two cases].
abstract: L-2-hydroxyglutaric aciduria is a rare genetic neurometabolic disease. It occurs in childhood with mental retardation, cerebellar ataxia, and epilepsy. Macrocephaly is present in half of the cases. Diagnosis is based on clinical symptoms, biological and radiological findings, and molecular testing. Specific treatments can improve the spontaneous progression of the disease. We examined two independent patients who presented with L-2-hydroxyglutaric aciduria. Clinical presentation led to cerebral MRI and urinary organic acid chromatography. The genetic analysis confirmed the diagnosis. Under specific treatment, the progression of the disease was subsequently stopped. L-2-hydroxyglutaric aciduria shares common symptoms with other genetic and metabolic diseases. However, the association of a distinct phenotype and typical MRI abnormalities (such as a high signal in the subcortical white matter, pallidum, and dentate nuclei) should draw the clinician's attention to this diagnosis. It can easily be suspected with a simple urinary analysis and can then be confirmed by genetic testing. With this case report, we show the importance of genetic identification to begin treatment with riboflavin. Early detection of L-2-hydroxyglutaric aciduria based on MRI abnormalities can enable rapid initiation of treatment and prevent disease progression.
authors: Service de pédiatrie, centre hospitalier de Belfort-Montbéliard, 14, rue de Mulhouse, 90016 Belfort, France. Electronic address: swagner@chbm.fr.
authors: S
authors: S
authors: Wagner
authors: Unité CarMeN, centre de référence des maladies héréditaires du métabolisme, centre de biologie et pathologie Est, CHU de Lyon, 69677 Bron, France.
authors: C
authors: C
authors: Vianey-Saban
authors: Metabolic unit of the department of clinical chemistry, VU university medical center, 1081 HV Amsterdam, Pays-Bas.
authors: G-S
authors: GS
authors: Salomons
authors: Service de neuroradiologie diagnostique et thérapeutique, CHU de Nancy hôpital central, 54035 Nancy, France.
authors: E
authors: E
authors: Schmitt
authors: Service de médecine infantile 1, centre de référence des maladies héréditaires du métabolisme, CHU Brabois-Enfants, 54511 Vandœuvre-lès-Nancy, France.
authors: F
authors: F
authors: Feillet
mesh_terms: D000429:Alcohol Oxidoreductases / Q000235:genetics*; D001921:Brain / Q000473:pathology; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D002331:Carnitine / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D003241:Consanguinity; D004252:DNA Mutational Analysis; D004359:Drug Therapy, Combination; D042241:Early Diagnosis; D061345:Early Medical Intervention; D005260:Female; D005500:Follow-Up Studies; D006580:Genetic Carrier Screening; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D011379:Prognosis; D012256:Riboflavin / Q000627:therapeutic use
chemical_list: D000429:Alcohol Oxidoreductases; C506763:L2HGDH protein, human; D002331:Carnitine; D012256:Riboflavin