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

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.