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.

Abstract

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.

• Authors: Masahiko Kimura, Hye Ran Yoon, Pornswan Wasant, Yukitoshi Takahashi, Seiji Yamaguchi
• Journal: Clinica chimica acta; international journal of clinical chemistry (Clin Chim Acta) Vol. 316 Issue 1-2 Pg. 117-21 (Feb 2002) ISSN: 0009-8981 [Print] Netherlands
• PMID: 11750281 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Fatty Acids
• Acyl-CoA Dehydrogenase
• Acyl-CoA Dehydrogenase, Long-Chain

Topics

• Acyl-CoA Dehydrogenase
• Acyl-CoA Dehydrogenase, Long-Chain (deficiency)
• Blood Specimen Collection (methods)
• Child
• Fatty Acids (blood)
• Gas Chromatography-Mass Spectrometry (methods, standards)
• Humans
• Mitochondrial Diseases (blood, diagnosis, enzymology)
• Oxidation-Reduction
• Sensitivity and Specificity