Neuropediatrics · 2000 · 65 citations · 0 references
MedicineBiochemistryPediatricsDevelopmental PediatricsNeonatologyPediatric GeneticsAmino Acid Metabolism DisordersNeonatal Metabolic DisordersCongenital Metabolic DisordersMetabolic Disorder DiagnosisMetabolic EncephalopathyPrenatal Diagnosis Of Metabolic DisordersPrenatal Molecular Diagnosis
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.