A sensitive and simplified method to analyze free fatty acids in children with mitochondrial beta oxidation disorders using gas chromatography/mass spectrometry and dried blood spots.
BACKGROUND
A precise diagnosis of mitochondrial fatty acid beta-oxidation (FAO) disorders can be difficult as several enzymatic reactions are involved.


METHODS
Using 5 blood spots on filter paper, each 3 mm in diameter, octanoate, decanoate, cis-4-decenoic acid (C10:1) and cis-5-tetradecenoic acid (C14:1) were measured by one step transmethylation and gas chromatography-mass spectrometry (GC/MS).


RESULTS
In subjects with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency C10:1 was increased. C14:1 was increased in very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, and both were increased in multiple acyl CoA dehydrogenase (MAD) deficiency.


CONCLUSIONS
Free fatty acids (FFAs) can be measured with a small amount of blood sample if selective ion monitoring (SIM) in GC/MS analysis is used. A single microtube was sufficient throughout the procedure prior to injection onto GC/MS.
Kimura
Masahiko
M
Department of Pediatrics, Shimane Medical University, 89-1 Enya, Izumo, Shimane 693-8501, Japan. kimura@shimane-med.ac.jp
Yoon
Hye Ran
HR
Wasant
Pornswan
P
Takahashi
Yukitoshi
Y
Yamaguchi
Seiji
S
D042964:Acyl-CoA Dehydrogenase; D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency*; D001800:Blood Specimen Collection / Q000379:methods; D002648:Child; D005227:Fatty Acids / Q000097:blood*; D008401:Gas Chromatography-Mass Spectrometry / Q000379:methods / Q000592:standards; D006801:Humans; D028361:Mitochondrial Diseases / Q000097:blood / Q000175:diagnosis* / Q000201:enzymology*; D010084:Oxidation-Reduction; D012680:Sensitivity and Specificity
D005227:Fatty Acids; D042964:Acyl-CoA Dehydrogenase; D044942:Acyl-CoA Dehydrogenase, Long-Chain