Combined D-2- and L-2-hydroxyglutaric aciduria
Semantic Scholar uses AI to extract papers important to this topic.
The 2-hydroxyglutaric aciduria (2-HGA) is a rare neurometabolic disorder that leads to the development of brain damage. It is… Expand A patient with protein-losing gastroenteropathy and egg allergy has been shown to have a previously unrecognized organic aciduria… Expand Summaryl-2-Hydroxyglutaric aciduria is a rare organic aciduria associated with neurological and particularly cerebellar… Expand The inherited neurometabolic disease d‐2‐hydroxyglutaric aciduria is complicated by progressive neurodegeneration of vulnerable… Expand Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is considered a rare inherited mitochondrial fatty acid oxidation disorder… Expand Two distinct disorders with elevated urinary excretion of 2-hydroxyglutaric acid are known: L-2-hydroxyglutaric aciduria and D-2… Expand D-2-Hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria are two distinct inherited metabolic diseases. The accurate… Expand D‐2‐Hydroxyglutaric aciduria has been observed in patients with extremely variable clinical symptoms, creating doubt about the… Expand ABSTRACT: A stable-isotope dilution assay has been developed for quantitation of D- and L-2-hydroxyglutaric acids in physiologic… Expand We evaluted measurement of urinary 4-hydroxyphenyl acetic acid as a potential screening method for small-bowel disease and… Expand