Journal of Inherited Metabolic Disease

, Volume 3, Issue 1, pp 109–112

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

  • M. Duran
  • J. P. Kamerling
  • H. D. Bakker
  • A. H. van Gennip
  • S. K. Wadman
Article

DOI: 10.1007/BF02312543

Cite this article as:
Duran, M., Kamerling, J.P., Bakker, H.D. et al. J Inherit Metab Dis (1980) 3: 109. doi: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.

Copyright information

© MTP Press Limited, International Medical Publishers 1980

Authors and Affiliations

  • M. Duran
    • 1
  • J. P. Kamerling
    • 1
    • 2
  • H. D. Bakker
    • 3
  • A. H. van Gennip
    • 3
  • S. K. Wadman
    • 1
  1. 1.University Children's Hospital ‘Het Wilhelmina Kinderziekenhuis’UtrechtThe Netherlands
  2. 2.Bio-Organic Chemistry DepartmentUniversity of UtrechtUtrechtThe Netherlands
  3. 3.Emma Children's HospitalAmsterdamThe Netherlands