L‐2‐Hydroxyglutaric aciduria: an inborn error of metabolism?

Journal of Inherited Metabolic Disease - 1980
Marinus Durán1, J.P. Kamerling2,3, Henk D. Bakker4, A. H. van Gennip4, S.K. Wadman1
1University Children's Hospital ‘Het Wilhelmina Kinderziekenhuis’, Utrecht The Netherlands
2University Children's Hospital “Het Wilhelmina Kinderziekenhuis”, Nieuwe Gracht 137, Utrecht The Netherlands
3Bio-Organic Chemistry Department, University of Utrecht, Croesestraat 79, Utrecht, The Netherlands
4Emma Children's Hospital, Amsterdam, The Netherlands

Tóm tắt

AbstractA 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.

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Journal of Inherited Metabolic Disease

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