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Case Reports
. 1980;3(1):11-5.
doi: 10.1007/BF02312516.

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

R A Chalmers, A M Lawson, R W Watts, A S Tavill, J P Kamerling, E Hey, D Ogilvie
Case Reports

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

R A Chalmers et al. J Inherit Metab Dis. 1980.

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.

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