1.
J Pediatr
; 100(6): 946-50, 1982 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-7086597
2.
J Pediatr
; 100(4): 582-4, 1982 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-7038078
3.
J Pediatr
; 90(5): 746-50, 1977 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-856963
RESUMO
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.