D-2-hydroxyglutaric aciduria: Case report and biochemical studies
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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.
KeywordsPublic Health Internal Medicine Metabolic Disease Metabolic Disorder Biochemical Study
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