Detection and quantitation of acylcarnitines in plasma and blood spots from patients with inborn errors of fatty acid oxidation.
Acylcarnitine profiling in plasma and dried blood spots by radioisotopic exchange/HPLC demonstrates that MCAD deficiency can be reliably detected in the asymptomatic state without L-carnitine therapy. The OC/AcC ratio differentiates MCAD deficiency from normal controls. A longer chain acylcarnitine (r.t. 43 min.) was detected in all 3 patients with a defect in long chain fatty acid oxidation. Detection of C4- and C5-acylcarnitine isomers in plasma helped characterize a metabolic defect affecting branched chain acyl-CoA oxidation in 3 patients. Quantitative data in 2 patients with MCAD deficiency showed that plasma concentrations of OC and AcC are dependent on both the availability of free carnitine and the severity of metabolic decompensation.
Schmidt-Sommerfeld
E
E
Department of Pediatrics, University of Chicago 60637.
Penn
D
D
Duran
M
M
Rinaldo
P
P
Bennett
M J
MJ
Santer
R
R
Stanley
C A
CA
D042964:Acyl-CoA Dehydrogenase; D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency; D001801:Blood Stains; D002331:Carnitine / Q000097:blood*; D005227:Fatty Acids / Q000378:metabolism*; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000097:blood*; D010084:Oxidation-Reduction; D013237:Stereoisomerism
D005227:Fatty Acids; D042964:Acyl-CoA Dehydrogenase; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D002331:Carnitine