Literature DB >> 7988014

Analysis of fatty acid oxidation intermediates in cultured fibroblasts to detect mitochondrial oxidation disorders.

M Pourfarzam1, J Schaefer, D M Turnbull, K Bartlett.   

Abstract

We describe a method for the diagnosis of mitochondrial fatty acid oxidation disorders that is based on the analysis of acylcarnitine and acyl-coenzyme A (acyl-CoA) esters generated during fatty acid oxidation by permeabilized skin fibroblasts. This method requires only small amounts of cultured fibroblasts with minimal preparation, and no isolation of mitochondrial fractions is necessary. During oxidation of [U-14C]hexadecanoate, normal human fibroblasts from patients with fatty acid oxidation defects show a completely different pattern of intermediates, and in each case the observed profile reflects the site of the defect. The diagnosis and likely site of a mitochondrial fatty acid oxidation defect can be made readily from two 80-cm2 culture flasks of fibroblasts with this technique.

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Year:  1994        PMID： 7988014

Source DB:  PubMed          Journal:  Clin Chem        ISSN： 0009-9147            Impact factor:   8.327


  10 in total

1.  A simple screening test for fatty acid oxidation defects using whole-blood palmitate oxidation.

Authors:  L E Seargeant; K Balachandra; C Mallory; L A Dilling; C R Greenberg
Journal:  J Inherit Metab Dis       Date:  1999-08       Impact factor: 4.982

2.  In situ assay of fatty acid β-oxidation by metabolite profiling following permeabilization of cell membranes.

Authors:  Regina Ensenauer; Ralph Fingerhut; Sonja C Schriever; Barbara Fink; Marc Becker; Nina C Sellerer; Philipp Pagel; Andreas Kirschner; Torsten Dame; Bernhard Olgemöller; Wulf Röschinger; Adelbert A Roscher
Journal:  J Lipid Res       Date:  2012-02-16       Impact factor: 5.922

3.  Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders.

Authors:  J J Shen; D Matern; D S Millington; S Hillman; M D Feezor; M J Bennett; M Qumsiyeh; S G Kahler; Y T Chen; J L Van Hove
Journal:  J Inherit Metab Dis       Date:  2000-02       Impact factor: 4.982

4.  Acylcarnitines: potential implications for skeletal muscle insulin resistance.

Authors:  Céline Aguer; Colin S McCoin; Trina A Knotts; A Brianne Thrush; Kikumi Ono-Moore; Ruth McPherson; Robert Dent; Daniel H Hwang; Sean H Adams; Mary-Ellen Harper
Journal:  FASEB J       Date:  2014-10-23       Impact factor: 5.191

5.  Very-long-chain acyl-CoA dehydrogenase deficiency: molecular genetics of a mitochondrial membrane enzyme.

Authors:  P M Coates
Journal:  Am J Hum Genet       Date:  1995-08       Impact factor: 11.025

Review 6.  Mammalian mitochondrial beta-oxidation.

Authors:  S Eaton; K Bartlett; M Pourfarzam
Journal:  Biochem J       Date:  1996-12-01       Impact factor: 3.857

7.  The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results.

Authors:  Ronald J A Wanders; Jos P N Ruiter; Lodewijk IJLst; Hans R Waterham; Sander M Houten
Journal:  J Inherit Metab Dis       Date:  2010-05-20       Impact factor: 4.982

8.  The effect of respiratory chain impairment of beta-oxidation in rat heart mitochondria.

Authors:  S Eaton; M Pourfarzam; K Bartlett
Journal:  Biochem J       Date:  1996-10-15       Impact factor: 3.857

9.  Analysis of organic acids after incubation with (16-2H3)palmitic acid in fibroblasts from patients with mitochondrial beta-oxidation defects.

Authors:  J H Osorio; M Lluch; A Ribes
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

10.  Lactic acidosis in long-chain fatty acid beta-oxidation disorders.

Authors:  F V Ventura; J P Ruiter; L IJlst; I T de Almeida; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982
  10 in total

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