Detection of inborn errors of fatty acid oxidation from acylcarnitine analysis of plasma and blood spots with the radioisotopic exchange-high-performance liquid chromatographic method.
Sixty-one plasma samples from patients with inborn errors of fatty acid oxidation and from control subjects were analyzed in a blinded fashion for acylcarnitines by the radioisotopic exchange-high-performance liquid chromatographic method. All samples from patients with medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency (n = 30), some of which had been stored in a frozen state for several years, showed a prominent octanoylcarnitine peak. In all blood spots from 11 patients with MCAD deficiency, octanoylcarnitine was also detected. Control plasma specimens and blood spots contained small amounts of octanoylcarnitine; however, the octanoylcarnitine/acetylcarnitine ratio differentiated patients with MCAD deficiency. Longer-chain acylcarnitines were found in plasma of all three patients with defects in long-chain fatty acid oxidation. Plasma and blood spots from a patient with multiple acyl-coenzyme A dehydrogenase deficiency contained C4-acylcarnitine, hexanoylcarnitine, octanoylcarnitine, and decanoylcarnitine. The results suggest that the method may be highly sensitive in detecting MCAD deficiency and other defects in fatty acid oxidation from plasma or blood spots.
Department of Pediatrics, University of Chicago, Illinois.
E
E
Schmidt-Sommerfeld
D
D
Penn
M
M
Duran
M J
MJ
Bennett
R
R
Santer
C A
CA
Stanley
D042964:Acyl-CoA Dehydrogenase; D002331:Carnitine / Q000031:analogs & derivatives / Q000097:blood; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D044943:Fatty Acid Desaturases / Q000172:deficiency*; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis*
D044943:Fatty Acid Desaturases; D042964:Acyl-CoA Dehydrogenase; C008698:octanoylcarnitine; D002331:Carnitine