Rapid diagnosis of medium-chain acyl CoA dehydrogenase deficiency by measurement of cis-4-decenoic acid in plasma.
Plasma concentrations of octanoate and cis-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 plasma cis-4-decenoate provides a sensitive and specific test for defects of medium-chain acyl CoA dehydrogenase.
Heales
S J
SJ
Department of Child Health, Institute of Child Health, London, UK.
Woolf
D A
DA
Robinson
P
P
Leonard
J V
JV
D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency; D042964:Acyl-CoA Dehydrogenase; D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency*; D002210:Caprylates / Q000097:blood; D002648:Child; D002675:Child, Preschool; D005229:Fatty Acids, Monounsaturated / Q000097:blood*; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007223:Infant; D008055:Lipids / Q000627:therapeutic use; D014280:Triglycerides / Q000627:therapeutic use
D002210:Caprylates; D005229:Fatty Acids, Monounsaturated; D008055:Lipids; D014280:Triglycerides; C055444:4-decenoic acid; D015094:3-Hydroxyacyl CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase; D044942:Acyl-CoA Dehydrogenase, Long-Chain; C031492:octanoic acid