D-2-Hydroxyglutaric aciduria with absence of corpus callosum and neonatal intracranial haemorrhage.
We report D-2-hydroxyglutaric aciduria in a neonate with intracranial haemorrhage and absence of the corpus callosum. D-2-hydroxyglutaric acid was confirmed by specific chiral derivatization gas chromatography-mass spectrometry. Absence of the corpus callosum and spontaneous neonatal intracranial haemorrhage should raise the suspicion for metabolic disease, and especially organic acidurias.
Wang
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Division of Genetic and Metabolic Disorders, Children's Hospital of Michigan, Wayne State University, Detroit, Michigan, USA. xiawang3965@yahoo.com
Jakobs
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Bawle
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D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D061085:Agenesis of Corpus Callosum; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics / Q000473:pathology* / Q000652:urine; D003337:Corpus Callosum / Q000473:pathology; D004830:Epilepsy, Tonic-Clonic / Q000209:etiology; D005977:Glutarates / Q000652:urine*; D006801:Humans; D007231:Infant, Newborn; D020300:Intracranial Hemorrhages / Q000151:congenital* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male
D005977:Glutarates; C019417:alpha-hydroxyglutarate