Rapid diagnosis of medium-chain acyl CoA dehydrogenase deficiency by measurement ofcis-4-decenoic acid in plasma
- 1 September 1991
- journal article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 14 (5), 661-667
- https://doi.org/10.1007/bf01799930
Abstract
Plasma concentrations of octanoate andcis-4-decenoate were measured by gas chromatography-mass spectrometry in children with deficiencies of medium-chain acyl-CoA dehydrogenase (MCAD), long-chain 3-hydroxyacyl-CoA dehydrogenase (3LHAD) and multiple acyl-CoA dehydrogenase (MAD) deficiency. Children receiving medium- and long-chain lipid supplements were also studied. Octanoate was elevated in all but one of the children with MCAD deficiency, in MAD deficiency and in children receiving medium-chain triglyceride supplementation.Cis-4-decenoate was only elevated in MCAD and MAD deficiency. It is concluded that measurement of plasmacis-4-decenoate provides a sensitive and specific test for defects of medium-chain acyl CoA dehydrogenase.Keywords
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