Diagnosis of medium chain acyl CoA dehydrogenase deficiency by measurement of cis-4-decenoic acid in dried blood spots.
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.
Heales
S J
SJ
Metabolic Disease Unit, Institute of Child Health, London, UK.
Leonard
J V
JV
D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005229:Fatty Acids, Monounsaturated / Q000097:blood*; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007223:Infant; D008297:Male
D005229:Fatty Acids, Monounsaturated; C055444:4-decenoic acid; D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase