Document Detail

Quantitative measurement of total and free 3-hydroxy fatty acids in serum or plasma samples: short-chain 3-hydroxy fatty acids are not esterified.
MedLine Citation:
PMID:  11117435     Owner:  NLM     Status:  MEDLINE    
Diagnostic protocols for disorders of mitochondrial fatty acid oxidation (FAO) generally include the measurement of plasma acylcarnitines. Many biochemical intermediates of FAO resulting from a metabolic block require carnitine conjugation for transport out of the mitochondria, and so occur as fatty acid carnitine conjugates in the blood. Both short- and long-chain acylcarnitines are generally determined, and this procedure has a critical role to play in the diagnosis of disorders of the very long-chain, medium-chain and short-chain acyl-CoA dehydrogenase defects. Less is known about the utility of acylcarnitines for the measurement of the various chain length intermediates of the 3-hydroxyacyl-CoA dehydrogenase steps of beta-oxidation. This study utilizes stable-isotope dilution gas chromatography-mass spectrometry to determine the serum or plasma concentrations of free 3-hydroxy fatty acids (3-OHFAs) of chain lengths C6 to C16. The 3-OHFA concentrations are determined in samples from normal individuals, hyperketotic individuals and patients with long-chain L-3-hydroxyacyl-CoA dehydrogenase and short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiencies, both before and after hydrolysis. The results of the study indicate the relative amounts of conjugated intermediates of all chain lengths. Long-chain 3-OHFAs (C14 and C16) are found in elevated concentrations after hydrolysis, whereas short-chain and medium-chain 3-OHFAs (C6 to C12) show no difference in concentrations between the two samples in all subjects tested, suggesting that only long-chain 3-hydroxy species form conjugates. This finding has important implications for the use of the acylcarnitine assay for the diagnosis of defects involving short-chain and medium-chain 3-hydroxy fatty acids.
P M Jones; A B Burlina; M J Bennett
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  23     ISSN:  0141-8955     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  2000 Nov 
Date Detail:
Created Date:  2000-12-14     Completed Date:  2001-03-08     Revised Date:  2007-03-21    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  745-50     Citation Subset:  IM    
Department of Pathology, University of Texas, Southwestern Medical Center, Dallas, USA.
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MeSH Terms
3-Hydroxyacyl CoA Dehydrogenases / blood,  deficiency*
Acyl-CoA Dehydrogenase
Acyl-CoA Dehydrogenase, Long-Chain / blood,  deficiency*
Fatty Acids, Nonesterified / blood*
Reg. No./Substance:
0/Fatty Acids, Nonesterified; EC 3-hydroxyacyl CoA dehydrogenase; EC CoA Dehydrogenases; EC Dehydrogenase, Long-Chain; EC Dehydrogenase

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