Abstract
Biochemical and morphologic studies on a patient with glutaric aciduria are presented. Generalized aminoaciduria, α-aminoadipic aciduria, and saccharopinuria were noted just prior to death, as well as glutaconic aciduria greater than β-hydroxyglutaric aciduria. Mutant liver mitochondria did not oxidize glutaryl-CoA to glutaconyl-CoA, indicating deficiency of glutaryl-CoA dehydrogenase. Autopsy revealed cerebral edema, ischemic neuronal changes, and striatal degeneration in the brain with fatty changes in liver, kidney, and myocardium.
