Author(s): Chalmers RA, Lawson AM, Watts RW, Tavill AS, Kamerling JP,
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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.
This article was published in J Inherit Metab Dis
and referenced in Metabolomics:Open Access