- D-2-hydroxyglutaric aciduria: case report and biochemical studies.
D-2-hydroxyglutaric aciduria: case report and biochemical studies.
Journal of inherited metabolic disease (1980-01-01)
R A Chalmers, A M Lawson, R W Watts, A S Tavill, J P Kamerling, E Hey, D Ogilvie
PMID6774165
RÉSUMÉ
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.
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