A new simple screening method for the diagnosis of medium chain acyl-CoA dehydrogenase deficiency.
We describe a simple inexpensive method for the detection of octanoyl-carnitine in urine by reverse-phase high performance thin-layer chromatography of the p-bromophenacyl derivative. This method provides a rapid and reliable means for the diagnosis of medium-chain acyl-CoA dehydrogenase deficiency which is suitable for routine laboratory use.
D000108:Acetylcarnitine / Q000652:urine; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D002855:Chromatography, Thin Layer; D006801:Humans
D000108:Acetylcarnitine; D044944:Acyl-CoA Dehydrogenases