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Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy.
Neuromuscul Disord. 2008 May; 18(5):355-64.ND

Abstract

The aim of the current study was to assess lipid metabolism in horses with atypical myopathy. Urine samples from 10 cases were subjected to analysis of organic acids, glycine conjugates, and acylcarnitines revealing increased mean excretion of lactic acid, ethylmalonic acid, 2-methylsuccinic acid, butyrylglycine, (iso)valerylglycine, hexanoylglycine, free carnitine, C2-, C3-, C4-, C5-, C6-, C8-, C8:1-, C10:1-, and C10:2-carnitine as compared with 15 control horses (12 healthy and three with acute myopathy due to other causes). Analysis of plasma revealed similar results for these predominantly short-chain acylcarnitines. Furthermore, measurement of dehydrogenase activities in lateral vastus muscle from one horse with atypical myopathy indeed showed deficiencies of short-chain acyl-CoA dehydrogenase (0.66 as compared with 2.27 and 2.48 in two controls), medium-chain acyl-CoA dehydrogenase (0.36 as compared with 4.31 and 4.82 in two controls) and isovaleryl-CoA dehydrogenase (0.74 as compared with 1.43 and 1.61 nmol min(-1) mg(-1) in two controls). A deficiency of several mitochondrial dehydrogenases that utilize flavin adenine dinucleotide as cofactor including the acyl-CoA dehydrogenases of fatty acid beta-oxidation, and enzymes that degrade the CoA-esters of glutaric acid, isovaleric acid, 2-methylbutyric acid, isobutyric acid, and sarcosine was suspected in 10 out of 10 cases as the possible etiology for a highly fatal and prevalent toxic equine muscle disease similar to the combined metabolic derangements seen in human multiple acyl-CoA dehydrogenase deficiency also known as glutaric acidemia type II.

Authors+Show Affiliations

Department of Equine Sciences, Medicine Section, Faculty of Veterinary Medicine, Utrecht University, Yalelaan 114, 3508 TD Utrecht, The Netherlands.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

18406615

Citation

Westermann, C M., et al. "Acquired Multiple Acyl-CoA Dehydrogenase Deficiency in 10 Horses With Atypical Myopathy." Neuromuscular Disorders : NMD, vol. 18, no. 5, 2008, pp. 355-64.
Westermann CM, Dorland L, Votion DM, et al. Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy. Neuromuscul Disord. 2008;18(5):355-64.
Westermann, C. M., Dorland, L., Votion, D. M., de Sain-van der Velden, M. G., Wijnberg, I. D., Wanders, R. J., Spliet, W. G., Testerink, N., Berger, R., Ruiter, J. P., & van der Kolk, J. H. (2008). Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy. Neuromuscular Disorders : NMD, 18(5), 355-64. https://doi.org/10.1016/j.nmd.2008.02.007
Westermann CM, et al. Acquired Multiple Acyl-CoA Dehydrogenase Deficiency in 10 Horses With Atypical Myopathy. Neuromuscul Disord. 2008;18(5):355-64. PubMed PMID: 18406615.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy. AU - Westermann,C M, AU - Dorland,L, AU - Votion,D M, AU - de Sain-van der Velden,M G M, AU - Wijnberg,I D, AU - Wanders,R J A, AU - Spliet,W G M, AU - Testerink,N, AU - Berger,R, AU - Ruiter,J P N, AU - van der Kolk,J H, Y1 - 2008/04/11/ PY - 2007/09/28/received PY - 2008/02/07/revised PY - 2008/02/18/accepted PY - 2008/4/15/pubmed PY - 2008/8/30/medline PY - 2008/4/15/entrez SP - 355 EP - 64 JF - Neuromuscular disorders : NMD JO - Neuromuscul. Disord. VL - 18 IS - 5 N2 - The aim of the current study was to assess lipid metabolism in horses with atypical myopathy. Urine samples from 10 cases were subjected to analysis of organic acids, glycine conjugates, and acylcarnitines revealing increased mean excretion of lactic acid, ethylmalonic acid, 2-methylsuccinic acid, butyrylglycine, (iso)valerylglycine, hexanoylglycine, free carnitine, C2-, C3-, C4-, C5-, C6-, C8-, C8:1-, C10:1-, and C10:2-carnitine as compared with 15 control horses (12 healthy and three with acute myopathy due to other causes). Analysis of plasma revealed similar results for these predominantly short-chain acylcarnitines. Furthermore, measurement of dehydrogenase activities in lateral vastus muscle from one horse with atypical myopathy indeed showed deficiencies of short-chain acyl-CoA dehydrogenase (0.66 as compared with 2.27 and 2.48 in two controls), medium-chain acyl-CoA dehydrogenase (0.36 as compared with 4.31 and 4.82 in two controls) and isovaleryl-CoA dehydrogenase (0.74 as compared with 1.43 and 1.61 nmol min(-1) mg(-1) in two controls). A deficiency of several mitochondrial dehydrogenases that utilize flavin adenine dinucleotide as cofactor including the acyl-CoA dehydrogenases of fatty acid beta-oxidation, and enzymes that degrade the CoA-esters of glutaric acid, isovaleric acid, 2-methylbutyric acid, isobutyric acid, and sarcosine was suspected in 10 out of 10 cases as the possible etiology for a highly fatal and prevalent toxic equine muscle disease similar to the combined metabolic derangements seen in human multiple acyl-CoA dehydrogenase deficiency also known as glutaric acidemia type II. SN - 0960-8966 UR - https://www.unboundmedicine.com/medline/citation/18406615/Acquired_multiple_Acyl_CoA_dehydrogenase_deficiency_in_10_horses_with_atypical_myopathy_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0960-8966(08)00037-0 DB - PRIME DP - Unbound Medicine ER -