title: Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria?
abstract: Two distinct disorders with elevated urinary excretion of 2-hydroxyglutaric acid are known: L-2-hydroxyglutaric aciduria and D-2-hydroxyglutaric aciduria. This paper presents clinical and biochemical studies in three patients and unsuccessful prenatal diagnosis in one case with combined D-2- and L-2-hydroxyglutaric aciduria. We suggest that these patients, who displayed a phenotype of neonatal onset metabolic encephalopathy, present a third variant of 2-hydroxyglutaric aciduria. Prenatal diagnosis is not reliable in this disorder.
authors.affiliation: Department of Metabolic Diseases, Children's Hospital, Ludwig-Maximilians-University of Munich, Germany. Ania.Muntau@kk-i.med.uni-muenchen.de
authors.forename: A C
authors.initials: AC
authors.lastname: Muntau
authors.forename: W
authors.initials: W
authors.lastname: Röschinger
authors.forename: A
authors.initials: A
authors.lastname: Merkenschlager
authors.forename: M S
authors.initials: MS
authors.lastname: van der Knaap
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
authors.forename: M
authors.initials: M
authors.lastname: Duran
authors.forename: G F
authors.initials: GF
authors.lastname: Hoffmann
authors.forename: A A
authors.initials: AA
authors.lastname: Roscher
mesh_terms: D015415:Biomarkers / Q000652:urine; D001921:Brain / Q000473:pathology; D020739:Brain Diseases, Metabolic, Inborn / Q000150:complications / Q000175:diagnosis* / Q000652:urine*; D002849:Chromatography, Gas / Q000379:methods; D003937:Diagnosis, Differential; D004827:Epilepsy / Q000175:diagnosis / Q000209:etiology; D005260:Female; D005977:Glutarates / Q000652:urine*; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D013058:Mass Spectrometry; D011296:Prenatal Diagnosis
chemical_list: D015415:Biomarkers; D005977:Glutarates; C019417:alpha-hydroxyglutarate