Changes in blood carnitine and acylcarnitine profiles of very long-chain acyl-CoA dehydrogenase-deficient mice subjected to stress

European Journal of Clinical Investigation

Volumn 34, Issue 3, 2004, Pages 191-196

  Spiekerkoetter, U ^a,b,c   Tokunaga, C ^b   Wendel, U ^a   Mayatepek, E ^a   Exil, V ^b   Duran, M ^c   Wijburg, F A ^c   Wanders, R J A ^c   Strauss, A W ^a  

^a UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^b MONROE CARELL JR CHILDREN S HOSPITAL AT VANDERBILT   (United States)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Acylcarnitines; Carnitine; Fatty acid oxidation; Hypoglycaemia; Skeletal myopathy; VLCAD

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; ACYLCARNITINE; CARNITINE; LONG CHAIN FATTY ACID;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BLOOD LEVEL; COLD EXPOSURE; CONTROLLED STUDY; DIET RESTRICTION; ENZYME DEFICIENCY; HYPOGLYCEMIA; KNOCKOUT MOUSE; MONITORING; MOUSE; MYOPATHY; NONHUMAN; PRIORITY JOURNAL; STRESS; SYMPTOMATOLOGY; TREADMILL EXERCISE; WILD TYPE;

ACYL-COA DEHYDROGENASE, LONG-CHAIN; ANIMALS; BIOLOGICAL MARKERS; BLOOD GLUCOSE; CARNITINE; COLD; FASTING; MICE; MICE, KNOCKOUT; MOTOR ACTIVITY; PHENOTYPE; STRESS;

EID: 1642483426     PISSN: 00142972     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2362.2004.01308.x     Document Type: Article

References (14)

1. Gregersen N, Andresen BS, Corydon MJ, Corydon TJ, Olsen R, Bolund L et al. Mutation analysis in mitochondrial fatty acid oxidation defects: exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. Hum Mut 2001;18:169-89.
2. Mathur A, Sims HF, Gopalakrishnan D, Gibson B, Rinaldo P, Vockley J et al. Molecular heterogeneity in very long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. Circulation 1999;99:1337-43.
3. Bonnet D, Martin D, De Lonlay P, Villain E, Jouvet P, Rabier D et al. Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Circulation 1999;100:2248-53.
4. Cox KB, Hamm DA, Millington DS, Matern D, Vockley J, Rinaldo P et al. Gestational, pathologic and biochemical differences between very-long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse. Hum Mol Genet 2001;10:2069-77.
5. Spiekerkotter U, Schwahn B, Korall H, Trefz FK, Andresen BS, Wendel U. Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: monitoring of treatment by carnitine/acylcarnitine analysis in blood spots. Acta Paediatr 2000;89:492-5.
6. Papaioannou VE, Johnson RS. Gene Targeting: a Practical Approach. Oxford, United Kingdom: Oxford University Press; 1993. pp. 107-46.
7. Exil VJ, Roberts R, Sims H, McLaughlin JE, Malkin RA, Gardner CD et al. Very-long-chain acyl-Coenzyme A dehydrogenase deficiency in mice. Circ Res 2003;93:448-55.
8. Vreken P, van Lint AE, Bootsma AH, Overmars H, Wanders RJ, van Gennip AH. Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidemias and fatty acid oxidation defects. J Inherit Metab Dis 1999;22:302-6.
9. Chace DH, DiPerna JC, Mitchell BL, Sgroi B, Hofman LF, Naylor EW. Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death. Clin Chem 2001;47:1166-82.
10. Costa CG, Dorland L, de Almeida IT, Jacobs C, Duran M, Poll-The BT. The effect of fasting, long-chain triglyceride load and carnitine load on plasma long-chain acylcarnitine levels in mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 1998;21:391-9.
11. Liu J, Killilea DW, Ames BN. Age-associated mitochondrial oxidative decay: improvement of carnitine acetyltransferase substrate-binding affinity and activity in brain by feeding old rats acetyl-L-carnitine and/or R-alpha-lipoic acid. Proc Natl Acad Sci USA 2002;99:1876-81.
12. Roe DS, Vianey-Saban C, Sharma S, Zabot MT, Roe CR. Oxidation of unsaturated fatty acids by human fibroblasts with very-long-chain acyl-CoA dehydrogenase deficiency: aspects of substrate specificity and correlation with clinical phenotype. Clin Chim Acta 2001;312:55-67.
13. Sim KG, Carpenter K, Hammond J, Christodoulou J, Wilcken B. Quantitative fibroblast acylcarnitine profiles in mitochondrial fatty acid β-oxidation defects: phenotype/metabolite correlations. Mol Genet Metab 2002;76:327-34.
14. Guerra C, Koza RA, Walsh K, Kurtz DM, Wood PA, Kozal LP. Abnormal nonshivering thermogenesis in mice with inherited defects of fatty acid oxidation. J Clin Invest 1998;102:1724-31.