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 journalArticle

34 Scopus citations


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
Issue number1
StatePublished - Jan 1995
Externally publishedYes


ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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