Journal of Inherited Metabolic Disease

, Volume 3, Issue 1, pp 11–15 | Cite as

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

  • R. A. Chalmers
  • A. M. Lawson
  • R. W. E. Watts
  • A. S. Tavill
  • J. P. Kamerling
  • E. Hey
  • D. Ogilvie
Article

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.

Keywords

Public Health Internal Medicine Metabolic Disease Metabolic Disorder Biochemical Study 

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Copyright information

© MTP Press Limited, International Medical Publishers 1980

Authors and Affiliations

  • R. A. Chalmers
    • 1
  • A. M. Lawson
    • 1
  • R. W. E. Watts
    • 1
  • A. S. Tavill
    • 1
  • J. P. Kamerling
    • 2
  • E. Hey
    • 3
  • D. Ogilvie
    • 3
  1. 1.Divisions of Inherited Metabolic Diseases, Clinical Chemistry and Clinical InvestigationMRC Clinical Research CentreHarrow
  2. 2.Bio-organic Chemistry DepartmentUniversity of UtrechtThe Netherlands
  3. 3.The Hospital for Sick ChildrenLondon

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