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D-2-hydroxyglutaric aciduria: Case report and biochemical studies

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Journal of Inherited Metabolic Disease

Abstract

A patient with protein-losing gastroenteropathy and egg allergy has been shown to have a previously unrecognized organic aciduria,d-2-hydroxyglutaric aciduria. The observations made are consistent with an inherited metabolic disorder in the catabolism of 5-aminolaevulinate possibly due to deficient activity of a specificd-2-hydroxyglutarate dehydrogenase.

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Authors and Affiliations

  1. Divisions of Inherited Metabolic Diseases, Clinical Chemistry and Clinical Investigation, MRC Clinical Research Centre, Watford Road, HA1 3UJ, Harrow

    R. A. Chalmers, A. M. Lawson, R. W. E. Watts & A. S. Tavill

  2. Bio-organic Chemistry Department, University of Utrecht, The Netherlands

    J. P. Kamerling

  3. The Hospital for Sick Children, Great Ormond Street, London

    E. Hey & D. Ogilvie

Authors
  1. R. A. Chalmers
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  2. A. M. Lawson
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  3. R. W. E. Watts
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  4. A. S. Tavill
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  5. J. P. Kamerling
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  6. E. Hey
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  7. D. Ogilvie
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Additional information

We have had interesting discussions with Dr M. Duran and Prof. Dr S. K. Wadman on the metabolic origins and fate of 2-hydroxyglutaric acid.

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Chalmers, R.A., Lawson, A.M., Watts, R.W.E. et al. D-2-hydroxyglutaric aciduria: Case report and biochemical studies. J Inherit Metab Dis 3, 11–15 (1980). https://doi.org/10.1007/BF02312516

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  • DOI: https://doi.org/10.1007/BF02312516

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