Glutaric aciduria: biochemical and morphologic considerations
SI Goodman, MD Norenberg, RH Shikes… - The Journal of …, 1977 - Elsevier
SI Goodman, MD Norenberg, RH Shikes, DJ Breslich, PG Moe
The Journal of pediatrics, 1977•ElsevierBiochemical 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 …
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 …
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.
Elsevier