Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I.
Biochemically, GA-1 is characterized by marked increase of glutaric acid (GA), 3-hydroxyglutaric acid (3-OH-GA) in urine, plasma and cerebrospinal fluid which is detected by gas chromatography/mass spectrometry (GC/MS).3