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

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

Research output: Contribution to journalArticle

34 Citations (Scopus)

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 1 1995

Fingerprint

Enzyme Assays
Neurologic Manifestations
Lactic Acid
Fibroblasts
Newborn Infant
Skin
Acids
ethylmalonic acid
Short chain Acyl CoA dehydrogenase deficiency
butyrylcarnitine

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

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Transient organic aciduria and persistent lacticacidemia in a patient with short-chain acyl-coenzyme A dehydrogenase deficiency. / Dawson, D. Brian; Waber, Lewis; Hale, Daniel; Bennett, Michael J.

In: The Journal of pediatrics, Vol. 126, No. 1, 01.01.1995, p. 69-71.

Research output: Contribution to journalArticle

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