Literature DB >> 20490924

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

Ronald J A Wanders1, Jos P N Ruiter, Lodewijk IJLst, Hans R Waterham, Sander M Houten.   

Abstract

Oxidation of fatty acids in mitochondria is a key physiological process in higher eukaryotes including humans. The importance of the mitochondrial beta-oxidation system in humans is exemplified by the existence of a group of genetic diseases in man caused by an impairment in the mitochondrial oxidation of fatty acids. Identification of patients with a defect in mitochondrial beta-oxidation has long remained notoriously difficult, but the introduction of tandem-mass spectrometry in laboratories for genetic metabolic diseases has revolutionalized the field by allowing the rapid and sensitive analysis of acylcarnitines. Equally important is that much progress has been made with respect to the development of specific enzyme assays to identify the enzyme defect in patients subsequently followed by genetic analysis. In this review, we will describe the current state of knowledge in the field of fatty acid oxidation enzymology and its application to the follow-up analysis of positive neonatal screening results.

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Year:  2010        PMID： 20490924      PMCID： PMC2946543          DOI： 10.1007/s10545-010-9104-8

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  68 in total

1.  Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoyl-coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein.

Authors:  Y Uchida; K Izai; T Orii; T Hashimoto
Journal:  J Biol Chem       Date:  1992-01-15       Impact factor: 5.157

2.  Diagnosis of medium-chain acyl-CoA dehydrogenase deficiency in lymphocytes and liver by a gas chromatographic method: the effect of oral riboflavin supplementation.

Authors:  M Duran; C B Cleutjens; D Ketting; L Dorland; J B de Klerk; F J van Sprang; R Berger
Journal:  Pediatr Res       Date:  1992-01       Impact factor: 3.756

3.  Purification and characterization of the trifunctional beta-oxidation complex from pig heart mitochondria.

Authors:  M J Luo; X Y He; H Sprecher; H Schulz
Journal:  Arch Biochem Biophys       Date:  1993-07       Impact factor: 4.013

4.  Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria.

Authors:  K Carpenter; R J Pollitt; B Middleton
Journal:  Biochem Biophys Res Commun       Date:  1992-03-16       Impact factor: 3.575

5.  A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase.

Authors:  T Aoyama; Y Uchida; R I Kelley; M Marble; K Hofman; J H Tonsgard; W J Rhead; T Hashimoto
Journal:  Biochem Biophys Res Commun       Date:  1993-03-31       Impact factor: 3.575

6.  Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency.

Authors:  S Yamaguchi; Y Indo; P M Coates; T Hashimoto; K Tanaka
Journal:  Pediatr Res       Date:  1993-07       Impact factor: 3.756

7.  Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.

Authors:  S V Pande; M Brivet; A Slama; F Demaugre; C Aufrant; J M Saudubray
Journal:  J Clin Invest       Date:  1993-03       Impact factor: 14.808

8.  Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. I. Purification and properties of very-long-chain acyl-coenzyme A dehydrogenase.

Authors:  K Izai; Y Uchida; T Orii; S Yamamoto; T Hashimoto
Journal:  J Biol Chem       Date:  1992-01-15       Impact factor: 5.157

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

Authors:  M Pourfarzam; J Schaefer; D M Turnbull; K Bartlett
Journal:  Clin Chem       Date:  1994-12       Impact factor: 8.327

10.  A simple spectrophotometric assay for long-chain acyl-CoA dehydrogenase activity measurements in human skin fibroblasts.

Authors:  L Ijlst; R J Wanders
Journal:  Ann Clin Biochem       Date:  1993-05       Impact factor: 2.057
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  68 in total

1.  Synthesis, characterization and efficacy of mitochondrial targeted delivery of TPP-curcumin in rotenone-induced toxicity.

Authors:  Whidul Hasan; Rajesh Kumar Kori; Khilashwar Thakre; Rajesh Singh Yadav; Deepali Jat
Journal:  Daru       Date:  2019-07-01       Impact factor: 3.117

2.  Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.

Authors:  Eugène F Diekman; Carolien C A Boelen; Berthil H C M T Prinsen; Lodewijk Ijlst; Marinus Duran; Tom J de Koning; Hans R Waterham; Ronald J A Wanders; Frits A Wijburg; Gepke Visser
Journal:  JIMD Rep       Date:  2012-03-31

3.  Acadl-SNP based genotyping assay for long-chain acyl-CoA dehydrogenase deficient mice.

Authors:  Rita J Luther; Alvin J O Almodovar; Russell Fullerton; Philip A Wood
Journal:  Mol Genet Metab       Date:  2012-02-15       Impact factor: 4.797

4.  The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).

Authors:  Julia Hesse; Carina Braun; Sidney Behringer; Uta Matysiak; Ute Spiekerkoetter; Sara Tucci
Journal:  J Inherit Metab Dis       Date:  2018-09-07       Impact factor: 4.982

Review 5.  The functions of cardiolipin in cellular metabolism-potential modifiers of the Barth syndrome phenotype.

Authors:  Vaishnavi Raja; Miriam L Greenberg
Journal:  Chem Phys Lipids       Date:  2014-01-17       Impact factor: 3.329

6.  Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases.

Authors:  Ryosuke Bo; Kenji Yamada; Hironori Kobayashi; Purevsuren Jamiyan; Yuki Hasegawa; Takeshi Taketani; Seiji Fukuda; Ikue Hata; Yo Niida; Yosuke Shigematsu; Kazumoto Iijima; Seiji Yamaguchi
Journal:  J Hum Genet       Date:  2017-05-18       Impact factor: 3.172

7.  In Vitro Monitoring of the Mitochondrial Beta-Oxidation Flux of Palmitic Acid and Investigation of Its Pharmacological Alteration by Therapeutics.

Authors:  Renata Murgasova; Ester Tor Carreras; Julien Bourgailh
Journal:  Eur J Drug Metab Pharmacokinet       Date:  2018-12       Impact factor: 2.441

8.  Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.

Authors:  Trine Tangeraas; Ingjerd Sæves; Claus Klingenberg; Jens Jørgensen; Erle Kristensen; Gunnþórunn Gunnarsdottir; Eirik Vangsøy Hansen; Janne Strand; Emma Lundman; Sacha Ferdinandusse; Cathrin Lytomt Salvador; Berit Woldseth; Yngve T Bliksrud; Carlos Sagredo; Øyvind E Olsen; Mona C Berge; Anette Kjoshagen Trømborg; Anders Ziegler; Jin Hui Zhang; Linda Karlsen Sørgjerd; Mari Ytre-Arne; Silje Hogner; Siv M Løvoll; Mette R Kløvstad Olavsen; Dionne Navarrete; Hege J Gaup; Rina Lilje; Rolf H Zetterström; Asbjørg Stray-Pedersen; Terje Rootwelt; Piero Rinaldo; Alexander D Rowe; Rolf D Pettersen
Journal:  Int J Neonatal Screen       Date:  2020-06-27

9.  Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts.

Authors:  Damien Bouvier; Christine Vianey-Saban; Séverine Ruet; Cécile Acquaviva
Journal:  JIMD Rep       Date:  2016-12-10

10.  NOX4-dependent fatty acid oxidation promotes NLRP3 inflammasome activation in macrophages.

Authors:  Jong-Seok Moon; Kiichi Nakahira; Kuei-Pin Chung; Gina M DeNicola; Michael Jakun Koo; Maria A Pabón; Kristen T Rooney; Joo-Heon Yoon; Stefan W Ryter; Heather Stout-Delgado; Augustine M K Choi
Journal:  Nat Med       Date:  2016-07-25       Impact factor: 53.440
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