Analysis of plasma free fatty acid cyanomethyl derivatives by GC-NPD for the diagnosis of mitochondrial fatty acid oxidation disorders

Early diagnosis of fatty acid oxidation (FAO) disorders is important to reduce severe morbidity and mortality. Although analysis of plasma free fatty acids (FFAs) is frequently performed using stable isotope-dilution gas chromatography-mass-spectrometry (GC-MS), there are institutions where the requ...

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Bibliographic Details
Published in:Chromatographia 2000-08, Vol.52 (3-4), p.211-216
Main Authors: Yoon, H. -R, Paik, M. -J, Shin, H. -S, Yu, C, Rinaldo, P
Format: Article
Language:English
Subjects:
beta oxidation
Biological and medical sciences
cost effectiveness
derivatization
detection limit
early diagnosis
esters
Food and Agriculture Organization
free fatty acids
gas chromatography-mass spectrometry
heat
instrumentation
Investigative techniques, diagnostic techniques (general aspects)
Medical sciences
Metabolic diseases
morbidity
mortality
Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques
patients
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Summary:Early diagnosis of fatty acid oxidation (FAO) disorders is important to reduce severe morbidity and mortality. Although analysis of plasma free fatty acids (FFAs) is frequently performed using stable isotope-dilution gas chromatography-mass-spectrometry (GC-MS), there are institutions where the required instrumentation is not available to support a rapid work-up of acutely ill patients. For this reason, we have developed a novel cyanomethyl derivatization method for FFAs which is followed by GC analysis of the resulting esters using nitrogen-phosphorus detector (NPD) for the rapid diagnosis of mitochondrial fatty acid oxidation disorders.FFAs were extracted from plasma and derivatized to the cyanomethyl ester by heating with bromoacetonitrile at 60°C for 30 min GC-NPD analysis was then performed.The mean recoveries of C6:0-C18:0FFAs were between 87% abd 96%. The method detection limits (S/N=3) were 0.1–0.5 ng for C6:0-C14:0 FFAs, and 0.001–0.01 ng for C16:0-C18:0 FFAs.We succesfully performed differential diagnosis of representative FAO disorders from the confimed patient's plasmas. This simple method offers cost-effective and time-saving alternative to GC-MS for the biochemical diagnosis of selected FAO disorders.
ISSN:0009-5893
1612-1112
DOI:10.1007/bf02490459