D-2-hydroxyglutaric aciduria: case report and biochemical studies.
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.
D000622:Aminolevulinic Acid / Q000378:metabolism; D001249:Asthma / Q000235:genetics*; D002675:Child, Preschool; D002849:Chromatography, Gas; D002852:Chromatography, Ion Exchange; D005512:Food Hypersensitivity / Q000235:genetics*; D005977:Glutarates / Q000652:urine*; D006801:Humans; D006901:Hydroxylysine / Q000378:metabolism; D008297:Male; D008661:Metabolism, Inborn Errors / Q000652:urine*; D011504:Protein-Losing Enteropathies / Q000235:genetics*; D013577:Syndrome
D005977:Glutarates; D006901:Hydroxylysine; D000622:Aminolevulinic Acid