Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy

Neuromuscular Disorders

Volumn 18, Issue 5, 2008, Pages 355-364

  Westermann, C M ^a   Dorland, L ^b   Votion, D M ^c   de Sain van der Velden, M G M ^b   Wijnberg, I D ^a   Wanders, R J A ^d   Spliet, W G M ^b   Testerink, N ^e   Berger, R ^b   Ruiter, J P N ^d   van der Kolk, J H ^a  

^a Faculty of Veterinary Medicine   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c UNIVERSITY OF LIÈGE   (Belgium)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e UTRECHT UNIVERSITY   (Netherlands)

Author keywords

Acylcarnitine; Glycine conjugate; Horse; Lipid metabolism; Multiple Acyl CoA dehydrogenase deficiency; Myopathy; Organic acid

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; ACYLCARNITINE; CARBOXYLIC ACID; CARNITINE; FATTY ACID; FLAVINE ADENINE NUCLEOTIDE; GLUTARIC ACID; GLYCINE; GLYCINE DERIVATIVE; ISOVALERIC ACID; LACTIC ACID; LIPID; MALONIC ACID; MITOCHONDRIAL ENZYME; SARCOSINE; SUCCINIC ACID;

ACIDEMIA; ACYL COENZYME A DEHYDROGENASE DEFICIENCY; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; ENZYME DEFICIENCY; ENZYME DEGRADATION; FATTY ACID BLOOD LEVEL; FATTY ACID OXIDATION; FEMALE; LIPID ANALYSIS; LIPID METABOLISM; MALE; MUSCLE DISEASE; NONHUMAN; PRIORITY JOURNAL; URINALYSIS;

ACYL-COA DEHYDROGENASE; ACYL-COA DEHYDROGENASES; ANIMALS; BUTYRIC ACID; BUTYRYL-COA DEHYDROGENASE; CARNITINE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; FEMALE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; GLUTARATES; HORSE DISEASES; HORSES; ISOVALERYL-COA DEHYDROGENASE; LACTIC ACID; MALE; MICROSCOPY, ELECTRON; MICROSCOPY, FLUORESCENCE; MUSCLES; MUSCULAR DISEASES; RIBOFLAVIN;

EID: 43449097188     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2008.02.007     Document Type: Article

References (21)

1. Brandt K., Hinrichs U., Glitz F., et al. Atypische Myoglobinurie der Weidepferde. Pferdeheilkd 13 (1997) 27-34
2. Cassart D., Baise E., Cherel Y., et al. Morphological alterations in oxidative muscles and mitochondrial structure associated with equine atypical myopathy. Equine Vet J 39 (2007) 26-32
3. Whitwell K.E., Harris P., and Farrington P.G. Atypical myoglobinuria: an acute myopathy in grazing horses. Equine Vet J 20 (1988) 357-363
4. Bowen J.N., and Craig J.F. Myoglobinuria in horses. Vet Rec 35 (1942) 354-355
5. Finno C.J., Valberg S.J., Wünschmann A., et al. Seasonal pasture myopathy in horses in the midwestern United States: 14 cases (1998-2005). J Am Vet Med Assoc 229 (2006) 1134-1141
6. Murray R.K., Granner D.K., Mayes P.A., et al. Harper's biochemistry. 25th ed. (2000), McGraw-Hill, New York
7. Carpenter S., and Karpati G. Pathology of skeletal muscle. 2nd ed. (2001), Oxford University Press, New York
8. Scriver C.R., and Sly W.S. The metabolic and molecular bases of inherited disease. 8th ed. (2001), McGraw-Hill, New York
9. Spaan A.N., IJlst L., van Roermund C.W., et al. Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency. Mol Genet Metab 86 (2005) 441-447
10. Tzagoloff A., Jang J., Glerum D.M., et al. FLX1 codes for a carrier protein involved in maintaining a proper balance of flavin nucleotides in yeast mitochondria. J Biol Chem 271 (1996) 7392-7397
11. Wu M., Repetto B., Glerum D.M., et al. Cloning and characterization of FAD1, the structural gene for flavin adenine dinucleotide synthetase of Saccharomyces cerevisiae. Mol Cell Biol 15 (1995) 264-271
12. Przyrembel H., Wendel U., Becker K., et al. Glutaric aciduria type II: report on a previously undescribed metabolic disorder. Clin Chim Acta 66 (1976) 227-239
13. Curcoy A., Olsen R.K., Ribes A., et al. Late-onset form of beta-electron transfer flavoprotein deficiency. Mol Genet Metab 78 (2003) 247-249
14. Olsen R.K., Andresen B.S., Christensen E., et al. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. Hum Mutat 22 (2003) 12-23
15. Olsen R.K., Pourfarzam M., Morris A.A., et al. Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency. J Inherit Metab Dis 27 (2004) 671-678
16. Westermann C.M., de Sain-van der Velden M.G.M., van der Kolk J.H., et al. Equine biochemical Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) as a cause of rhabdomyolysis. Mol Gen Metab 91 (2007) 362-369
17. van Dam K.G., van Breda E., Schaart G., et al. Investigation of the expression and localization of glucose transporter 4 and fatty acid translocase/CD36 in equine skeletal muscle. Am J Vet Res 65 (2004) 951-956
18. Bedry R., Baudrimont I., Deffieux G., et al. Wild-mushroom intoxication as a cause of rhabdomyolysis. N Engl J Med 345 (2001) 798-802
19. Chodorowski Z., Waldman W., and Sein Anand J. Acute poisoning with Tricholoma equestre. Przegl Lek 59 (2002) 386-387
20. Lee P.T., Wu M.L., Tsai W.J., et al. Rhabdomyolysis: an unusual feature with mushroom poisoning. Am J Kidney Dis 38 (2001) E17
21. Aparicio R., Oňate J.M., Arizcun A., et al. Epidemic rhabdomyolysis following quail ingestion: a clinical, epidemiologic and experimental study. Clin Toxicol 112 (1999) 143-146