D‐2‐hydroxyglutaric aciduria: Case report and biochemical studies
- 1 January 1980
- journal article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 3 (1), 11-15
- https://doi.org/10.1007/bf02312516
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
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