Cis-4-decenoic acid in plasma: a characteristic metabolite in medium-chain acyl-CoA dehydrogenase deficiency.
The profile of organic acids in plasma of patients with a deficiency of medium-chain acyl-CoA dehydrogenase (EC 1.3.99.3) was determined by gas-liquid chromatography of trimethylsilylated derivatives of the acids isolated by ethyl acetate extraction. All 13 patients had increased concentrations of free octanoate, cis-4-decenoate, and decanoate in their plasma. Cis-4-decenoate, an intermediary metabolite of linoleic acid, is pathognomonic of medium-chain acyl-CoA dehydrogenase deficiency. This metabolite does not accumulate in plasma after oral loading with medium-chain triglycerides, in contrast to octanoate and decanoate. Two postmortem plasma samples from victims of infant sudden-death syndrome had detectable octanoate and decanoate, but cis-4-decenoate could not be detected. The identification of cis-4-decenoate in plasma may be an aid in the diagnosis of an inherited defect in oxidation of medium-chain fatty acids.
Duran
M
M
University Children's Hospital Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands.
Bruinvis
L
L
Ketting
D
D
de Klerk
J B
JB
Wadman
S K
SK
D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D002210:Caprylates / Q000097:blood; D003652:Decanoic Acids / Q000097:blood; D005227:Fatty Acids / Q000097:blood; D005229:Fatty Acids, Monounsaturated / Q000097:blood*; D005230:Fatty Acids, Nonesterified / Q000097:blood; D006801:Humans; D007223:Infant; D013398:Sudden Infant Death / Q000097:blood
D002210:Caprylates; D003652:Decanoic Acids; D005227:Fatty Acids; D005229:Fatty Acids, Monounsaturated; D005230:Fatty Acids, Nonesterified; C055444:4-decenoic acid; C031071:decanoic acid; D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase; C031492:octanoic acid