Summary
An isotope dilution mass spectrometric assay for plasmacis-dec-4-enoic acid is described. It is quicker, more reliable and more accurate than previous methods. It confirmed previous findings thatcis-dec-4-enoic acid is a reliable indicator for medium-chain acyl-CoA dehydrogenase deficiency (MCAD). The plasmacis-dec-4-enoic acid levels of both asymptomatic and symptomatic MCAD patients (3.5–71 µmol/L) are demonstrably higher than those of normal children (0.2–1.7 µmol/L), MCAD heterozygotes (0.1–1.5 µmol/L), those with other fatty acid oxidation defects (0.2–2.2 µmol/L) or those receiving high doses of valproic acid (0.2–0.4 µmol/L).
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Johnson, D.W., Harrison, J.R., Norton, W.A. et al. Plasmacis-dec-4-enoic acid measured by isotope dilution mass spectrometry; an improved assay to diagnose medium-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 17, 554–559 (1994). https://doi.org/10.1007/BF00711590
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DOI: https://doi.org/10.1007/BF00711590