Literature DB >> 9469249

Plasma free fatty acids in mitochondrial fatty acid oxidation defects.

G Martínez1, G Jiménez-Sánchez, P Divry, C Vianey-Saban, E Riudor, M Rodés, P Briones, A Ribes.   

Abstract

Plasma free fatty acid profiles from patients suffering from various mitochondrial beta-oxidation deficiencies were analyzed by gas chromatography-mass spectrometry. cis-4-Decenoic acid (10:1n-6) in medium-chain acyl-CoA dehydrogenase deficiency and cis-5-tetradecenoic acid (14:1n-9) in very-long-chain and 3-hydroxy-long chain acyl-CoA dehydrogenase deficiencies are characteristic of these diseases. In addition, patients with 3-hydroxy-long chain acyl-CoA dehydrogenase deficiency showed a specific increase of 3-hydroxy-long chain fatty acids. The study of plasma free fatty acids is an easy and useful methodology for the diagnostic approach of some mitochondrial beta-oxidation deficiencies, allowing us to establish a quick differentiation between medium- and long-chain defects.

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Year:  1997        PMID： 9469249     DOI： 10.1016/s0009-8981(97)00130-7

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


  4 in total

1.  Toxicity of octanoate and decanoate in rat peripheral tissues: evidence of bioenergetic dysfunction and oxidative damage induction in liver and skeletal muscle.

Authors:  Giselli Scaini; Kellen R Simon; Anelise M Tonin; Estela N B Busanello; Alana P Moura; Gustavo C Ferreira; Moacir Wajner; Emilio L Streck; Patrícia F Schuck
Journal:  Mol Cell Biochem       Date:  2011-10-21       Impact factor: 3.396

2.  Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain).

Authors:  M L Couce; D E Castiñeiras; J D Moure; J A Cocho; P Sánchez-Pintos; J García-Villoria; D Quelhas; N Gregersen; B S Andresen; A Ribes; J M Fraga
Journal:  JIMD Rep       Date:  2011-06-25

3.  Determination of total fatty acids in plasma: cis-5-tetradecenoic acid (C14:1 omega-9) in the diagnosis of long-chain fatty acid oxidation defects.

Authors:  P Divry; C Vianey-Saban; M Mathieu
Journal:  J Inherit Metab Dis       Date:  1999-05       Impact factor: 4.982

4.  TFPa/HADHA is required for fatty acid beta-oxidation and cardiolipin re-modeling in human cardiomyocytes.

Authors:  Jason W Miklas; Elisa Clark; Shiri Levy; Damien Detraux; Andrea Leonard; Kevin Beussman; Megan R Showalter; Alec T Smith; Peter Hofsteen; Xiulan Yang; Jesse Macadangdang; Tuula Manninen; Daniel Raftery; Anup Madan; Anu Suomalainen; Deok-Ho Kim; Charles E Murry; Oliver Fiehn; Nathan J Sniadecki; Yuliang Wang; Hannele Ruohola-Baker
Journal:  Nat Commun       Date:  2019-10-11       Impact factor: 14.919
  4 in total

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