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

doi:10.1016/S0022-3476(95)70505-8

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

Pediatrics

Research output: Contribution to journal › Article › peer-review

39 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 language	English (US)
Pages (from-to)	69-71
Number of pages	3
Journal	The Journal of pediatrics
Volume	126
Issue number	1
DOIs	https://doi.org/10.1016/S0022-3476(95)70505-8
State	Published - Jan 1995

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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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).",

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AU - Waber, Lewis

AU - Hale, Daniel E.

AU - Bennett, Michael J.

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AB - 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).

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

Abstract

ASJC Scopus subject areas

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