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D-2-hydroxyglutaric aciduria: case report and biochemical studies.

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 specific D-2-hydroxyglutarate dehydrogenase.
AuthorsR A Chalmers, A M Lawson, R W Watts, A S Tavill, J P Kamerling, E Hey, D Ogilvie
JournalJournal of inherited metabolic disease (J Inherit Metab Dis) Vol. 3 Issue 1 Pg. 11-5 ( 1980) ISSN: 0141-8955 [Print] United States
PMID6774165 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Glutarates
  • Hydroxylysine
  • Aminolevulinic Acid
Topics
  • Aminolevulinic Acid (metabolism)
  • Asthma (genetics)
  • Child, Preschool
  • Chromatography, Gas
  • Chromatography, Ion Exchange
  • Food Hypersensitivity (genetics)
  • Glutarates (urine)
  • Humans
  • Hydroxylysine (metabolism)
  • Male
  • Metabolism, Inborn Errors (urine)
  • Protein-Losing Enteropathies (genetics)
  • Syndrome

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