Determination of medium chain acyl-CoA dehydrogenase activity in cultured skin fibroblasts using mass spectrometry.
Medium chain acyl-CoA dehydrogenase deficiency, a defect of mitochondrial beta-oxidation, is one of the most frequently occurring among inborn errors of metabolism. We describe a rapid and sensitive gas chromatographic/mass spectrometric method allowing reliable assessment of medium chain acyl-CoA dehydrogenase activity in cultured skin fibroblasts. We investigated MCAD activity in three presumed medium chain acyl-CoA dehydrogenase deficient (MCADD) patients and 10 control subjects. The medium chain acyl-CoA dehydrogenase activity determined in three patients was 1.0 +/- 0.4 nmol.min-1.mg-1 protein (mean +/- SD; range: 0.6-1.4) and in controls it was 2.8 +/- 1.0 nmol.min-1.mg-1 protein (mean +/- SD; range: 1.6-4.4).
Niezen-Koning
K E
KE
Research Laboratory, Department of Pediatrics, Groningen, The Netherlands.
Chapman
T E
TE
Mulder
I E
IE
Smit
G P
GP
Reijngoud
D J
DJ
Berger
R
R
D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency* / Q000378:metabolism; D002478:Cells, Cultured; D005347:Fibroblasts / Q000201:enzymology*; D008401:Gas Chromatography-Mass Spectrometry / Q000379:methods*; D006801:Humans; D013058:Mass Spectrometry; D012016:Reference Values
D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase