Transient organic aciduria and persistent lacticacidemia in a patient with short-chain acyl-coenzyme A dehydrogenase deficiency

D. Brian Dawson, Lewis Waber, Daniel E. Hale, Michael J. Bennett

Research output: Contribution to journalArticlepeer-review

35 Scopus citations

Abstract

A neonate with signs of neurologic dysfunction was noted to have elevated blood lactic acid levels. Organic acid analysis revealed transient elevations in ethylmalonate, methylsuccinate, butyrylglycine, and butyrylcarnitine. Enzyme assay in cultured skin fibroblasts confirmed short-chain acyl coenzyme A dehydrogenase deficiency. The intermittent nature of the characteristic metabolic markers for this deficiency make diagnosis difficult. The apparent rarity of the disorder may be the result of underdiagnosis. (J PEDIATR 1995;126:69-71).

Original languageEnglish (US)
Pages (from-to)69-71
Number of pages3
JournalThe Journal of pediatrics
Volume126
Issue number1
DOIs
StatePublished - Jan 1995
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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