Diagnosis of medium chain acyl CoA dehydrogenase deficiency by measurement of cis-4-decenoic acid in dried blood spots.

Abstract

Using gas chromatography-mass spectrometry (GC-MS), with selected ion monitoring, a method for measurement of cis-4-decenoate in dried blood spots was developed. Using this assay, the concentration of cis-4-decenoate was determined in blood spots taken from a control population, seven children with medium chain acyl CoA dehydrogenase (MCAD) deficiency who were well at the time of sample collection and an asymptomatic sibling of a child with MCAD deficiency. cis-4-Decenoate was elevated, above the control range, in all the children with MCAD deficiency and in the previously undiagnosed sibling. It is concluded that measurement of cis-4-decenoate in dried blood spots provides a reliable and sensitive test for MCAD deficiency, that could be used in screening programmes.

• Authors: S J Heales, J V Leonard
• Journal: Clinica chimica acta; international journal of clinical chemistry (Clin Chim Acta) Vol. 209 Issue 1-2 Pg. 61-6 (Jul 31 1992) ISSN: 0009-8981 [Print] Netherlands
• PMID: 1395039 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Fatty Acids, Monounsaturated
• 4-decenoic acid
• Acyl-CoA Dehydrogenases
• Acyl-CoA Dehydrogenase

Topics

• Acyl-CoA Dehydrogenase
• Acyl-CoA Dehydrogenases (deficiency)
• Adolescent
• Child
• Child, Preschool
• Fatty Acids, Monounsaturated (blood)
• Female
• Gas Chromatography-Mass Spectrometry
• Humans
• Infant
• Male