Plasma cis-dec-4-enoic acid measured by isotope dilution mass spectrometry; an improved assay to diagnose medium-chain acyl-CoA dehydrogenase deficiency.
An isotope dilution mass spectrometric assay for plasma cis-dec-4-enoic acid is described. It is quicker, more reliable and more accurate than previous methods. It confirmed previous findings that cis-dec-4-enoic acid is a reliable indicator for medium-chain acyl-CoA dehydrogenase deficiency (MCAD). The plasma cis-dec-4-enoic acid levels of both asymptomatic and symptomatic MCAD patients (3.5-71 mumol/L) are demonstrably higher than those of normal children (0.2-1.7 mumol/L), MCAD heterozygotes (0.1-1.5 mumol/L), those with other fatty acid oxidation defects (0.2-2.2 mumol/L) or those receiving high doses of valproic acid (0.2-0.4 mumol/L).
Department of Chemical Pathology, Women's and Children's Hospital, North Adelaide, Australia.
D W
DW
Johnson
J R
JR
Harrison
W A
WA
Norton
A
A
Poulos
E F
EF
Robertson
D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D000293:Adolescent; D002247:Carbon Isotopes; D002648:Child; D002675:Child, Preschool; D005227:Fatty Acids / Q000097:blood*; D005229:Fatty Acids, Monounsaturated / Q000097:blood*; D006801:Humans; D007223:Infant; D013058:Mass Spectrometry
D002247:Carbon Isotopes; D005227:Fatty Acids; D005229:Fatty Acids, Monounsaturated; C055444:4-decenoic acid; D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase