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

155 Scopus citations

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 (US)
Pages (from-to)746-750
Number of pages5
JournalThe Journal of Pediatrics
Volume90
Issue number5
DOIs
StatePublished - May 1977
Externally publishedYes

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ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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