Glutaric aciduria

Biochemical and morphologic considerations

Stephen I. Goodman, Michael D Norenberg, Robert H. Shikes, Diana J. Breslich, Paul G. Moe

Research output: Contribution to journalArticle

154 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)746-750
Number of pages5
JournalThe Journal of pediatrics
Volume90
Issue number5
DOIs
StatePublished - Jan 1 1977
Externally publishedYes

Fingerprint

Corpus Striatum
Liver Mitochondrion
Brain Edema
Autopsy
Myocardium
Kidney
Liver
Brain
Glutaric Acidemia I
Saccharopinuria
glutaryl-coenzyme A
glutaconyl-coenzyme A

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Glutaric aciduria : Biochemical and morphologic considerations. / Goodman, Stephen I.; Norenberg, Michael D; Shikes, Robert H.; Breslich, Diana J.; Moe, Paul G.

In: The Journal of pediatrics, Vol. 90, No. 5, 01.01.1977, p. 746-750.

Research output: Contribution to journalArticle

Goodman, Stephen I. ; Norenberg, Michael D ; Shikes, Robert H. ; Breslich, Diana J. ; Moe, Paul G. / Glutaric aciduria : Biochemical and morphologic considerations. In: The Journal of pediatrics. 1977 ; Vol. 90, No. 5. pp. 746-750.
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