A new simple screening method for the diagnosis of medium chain acyl-CoA dehydrogenase deficiency

Clin Chim Acta. 1987 May 29;165(1):39-44. doi: 10.1016/0009-8981(87)90216-6.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acetylcarnitine / urine
  • Acyl-CoA Dehydrogenases / deficiency*
  • Chromatography, Thin Layer
  • Humans

Substances

  • Acetylcarnitine
  • Acyl-CoA Dehydrogenases