Literature DB >> 2109149

A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts.

N J Manning1, S E Olpin, R J Pollitt, J Webley.   

Abstract

The production of tritiated water from [9,10-3H]myristic acid can be used as a screening assay for the detection of medium-chain acyl-CoA dehydrogenase deficiency, multiple acyl-CoA dehydrogenation defects (glutaric aciduria type 2 and ethylmalonic-adipic aciduria types), and some types of hydroxydicarboxylic aciduria. Comparison with the release of tritiated water from [9,10-3H]palmitic acid may give an indication of the chain-length specificity of the metabolic defect. In a case of ethylmalonic-adipic aciduria such a prediction has been confirmed by examination of accumulated intermediates in the affected fibroblasts.

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Year:  1990        PMID： 2109149     DOI： 10.1007/bf01799333

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


  14 in total

1.  An accurate and sensitive assay of [14C]octanoate oxidation and its application on tissue homogenates and fibroblasts.

Authors:  J H Veerkamp; H T van Moerkerk; J A Bakkeren
Journal:  Biochim Biophys Acta       Date:  1986-03-21

2.  14CO2 production is no adequate measure of [14C]fatty acid oxidation.

Authors:  J H Veerkamp; T B van Moerkerk; J F Glatz; J G Zuurveld; A E Jacobs; A J Wagenmakers
Journal:  Biochem Med Metab Biol       Date:  1986-06

3.  Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase deficiency in family with sudden infant death.

Authors:  M J Bennett; F Allison; R J Pollitt; N J Manning; R G Gray; A Green; D E Hale; P M Coates
Journal:  Lancet       Date:  1987-02-21       Impact factor: 79.321

4.  In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase.

Authors:  S Kølvraa; N Gregersen; E Christensen; N Hobolth
Journal:  Clin Chim Acta       Date:  1982-11-24       Impact factor: 3.786

5.  Studies on the reaction mechanism of general acyl-CoA dehydrogenase. Determination of selective isotope effects in the dehydrogenation of butyryl-CoA.

Authors:  B Pohl; T Raichle; S Ghisla
Journal:  Eur J Biochem       Date:  1986-10-01

6.  Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation.

Authors:  J M Saudubray; F X Coudé; F Demaugre; C Johnson; K M Gibson; W L Nyhan
Journal:  Pediatr Res       Date:  1982-10       Impact factor: 3.756

7.  Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: two distinct entities.

Authors:  F Demaugre; J P Bonnefont; G Mitchell; N Nguyen-Hoang; A Pelet; M Rimoldi; S Di Donato; J M Saudubray
Journal:  Pediatr Res       Date:  1988-09       Impact factor: 3.756

8.  Riboflavin-responsive ethylmalonic-adipic aciduria.

Authors:  A Green; T G Marshall; M J Bennett; R G Gray; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

9.  14C-labeled substrate catabolism by human diploid fibroblasts derived from infants and adults.

Authors:  W J Rhead; A Moon; V Roettger; K Henkle
Journal:  Biochem Med       Date:  1985-10

10.  Glutaric aciduria type II: biochemical investigation and treatment of a child diagnosed prenatally.

Authors:  M J Bennett; D A Curnock; P C Engel; L Shaw; R G Gray; D Hull; A D Patrick; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982
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  56 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

Review 3.  Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.

Authors:  Kenji Yamada; Takeshi Taketani
Journal:  J Hum Genet       Date:  2018-11-06       Impact factor: 3.172

4.  Riboflavin responsive ethylmalonic-adipic aciduria in a 9-month-old boy with liver cirrhosis, myopathy and encephalopathy.

Authors:  M Brivet; M Tardieu; A Khellaf; A Boutron; F Rocchiccioli; C A Haengeli; A Lemonnier
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

5.  Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.

Authors:  S Gobin-Limballe; F Djouadi; F Aubey; S Olpin; B S Andresen; S Yamaguchi; H Mandel; T Fukao; J P N Ruiter; R J A Wanders; R McAndrew; J J Kim; J Bastin
Journal:  Am J Hum Genet       Date:  2007-10-29       Impact factor: 11.025

6.  Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele.

Authors:  N Gregersen; V Winter; S Lyonnet; J M Saudubray; U Wendel; T G Jensen; B S Andresen; S Kølvraa; W Lehnert; L Bolund
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

7.  A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).

Authors:  B S Andresen; P Bross; T G Jensen; V Winter; I Knudsen; S Kølvraa; U B Jensen; L Bolund; M Duran; J J Kim
Journal:  Am J Hum Genet       Date:  1993-09       Impact factor: 11.025

8.  Fatty acid oxidation in fibroblasts from patients with defects in beta-oxidation and in the respiratory chain.

Authors:  N Venizelos; U von Döbeln; L Hagenfeldt
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

9.  Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene.

Authors:  B S Andresen; T G Jensen; P Bross; I Knudsen; V Winter; S Kølvraa; L Bolund; J H Ding; Y T Chen; J L Van Hove
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025

10.  Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

Authors:  B S Andresen; S Olpin; B J Poorthuis; H R Scholte; C Vianey-Saban; R Wanders; L Ijlst; A Morris; M Pourfarzam; K Bartlett; E R Baumgartner; J B deKlerk; L D Schroeder; T J Corydon; H Lund; V Winter; P Bross; L Bolund; N Gregersen
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025
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