L‐2‐Hydroxyglutaric aciduria: an inborn error of metabolism?
- 1 December 1980
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 3 (1) , 109-112
- https://doi.org/10.1007/bf02312543
Abstract
A 5-year-old boy, excreting large amounts of 2-hydroxyglutaric acid in the urine (3.3–7.6 mmol/l), is described. The patient presented with psychomotor retardation and dystrophy. His skeletal age was delayed. The EEG was not well differentiated; it resembled that observed in 2-year-old children. There was a severe anaemia, which reacted well to iron supplements. The 2-hydroxyglutaric acid was found to have thel-configuration, as analysed by capillary gas chromatography of theO-acetylated di-(-)-2-butyl ester derivative. The relation ofl-2-hydroxyglutarate excretion to known metabolic pathways is discussed.Keywords
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