Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria?
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.
Muntau
A C
AC
Department of Metabolic Diseases, Children's Hospital, Ludwig-Maximilians-University of Munich, Germany. Ania.Muntau@kk-i.med.uni-muenchen.de
Röschinger
W
W
Merkenschlager
A
A
van der Knaap
M S
MS
Jakobs
C
C
Duran
M
M
Hoffmann
G F
GF
Roscher
A A
AA
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
D015415:Biomarkers; D005977:Glutarates; C019417:alpha-hydroxyglutarate