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 ha...

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Bibliographic Details
Published in:Journal of inherited metabolic disease 2003, Vol.26 (1), p.92-94
Main Authors: WANG, X, JAKOBS, C, BAWLE, E. V
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
Agenesis of Corpus Callosum
Amino Acid Metabolism, Inborn Errors - genetics
Amino Acid Metabolism, Inborn Errors - pathology
Amino Acid Metabolism, Inborn Errors - urine
Biological and medical sciences
Corpus Callosum - pathology
Epilepsy, Tonic-Clonic - etiology
Errors of metabolism
Glutarates - urine
Humans
Infant, Newborn
Intracranial Hemorrhages - congenital
Intracranial Hemorrhages - genetics
Magnetic Resonance Imaging
Male
Medical sciences
Metabolic diseases
Miscellaneous hereditary metabolic disorders
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Summary: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.
ISSN:0141-8955
1573-2665
DOI:10.1023/A:1024000202364