Glutaric aciduria: biochemical and morphologic considerations.
Biochemical and morphologic studies on a patient with glutaric aciduria are presented. Generalized aminoaciduria, alpha-aminoadipic aciduria, and saccharopinuria were noted just prior to death, as well as glutaconic aciduria greater than beta-hydroxyglutaric aciduria. Mutant liver mitochondria did not oxidize glutaryl-CoA to glutaconyl-CoA, indicating deficiency of glytaryl-CoA dehydrogenase. Autopsy revealed cerebral edema, ischemic neuronal changes, and striatal degeneration in the brain with fatty changes in liver, kidney, and myocardium.
D000592:Amino Acid Metabolism, Inborn Errors / Q000473:pathology* / Q000652:urine; D001344:Autopsy; D001921:Brain / Q000473:pathology; D001923:Brain Chemistry; D002648:Child; D005977:Glutarates / Q000032:analysis / Q000652:urine*; D006801:Humans; D006901:Hydroxylysine / Q000378:metabolism; D007223:Infant; D007668:Kidney / Q000473:pathology; D008099:Liver / Q000473:pathology; D008239:Lysine / Q000378:metabolism; D008297:Male; D008930:Mitochondria, Liver / Q000378:metabolism; D009206:Myocardium / Q000473:pathology; D010088:Oxidoreductases / Q000172:deficiency*; D014364:Tryptophan / Q000378:metabolism
D005977:Glutarates; D006901:Hydroxylysine; D014364:Tryptophan; D010088:Oxidoreductases; D008239:Lysine