OMIA 001457-9796 : Multiple acyl-CoA dehydrogenase deficiency in Equus caballus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 231680

Mendelian trait/disorder: no

Considered a defect: yes

Key variant known: no

Cross-species summary: Also known as glutaric acidemia II

Species-specific description: This equine disorder is an interesting example of a phenocopy, i.e. the phenotype of an inherited disorder that has a non-genetic cause. In this case, the non-genetic cause is ingestion of a toxin from microbes on plant leaves. In humans, there are inherited forms of this disorder due to mutations in three different genes (ETFA, ETFB, ETFDH) whose peptides are involved in electron transfer in the mitochondrial respiratory chain: see the MIM entry above. For another example of a phenocopy, see OMIA 000625-9913.

History: This disorder was first reported by Westermann et al. (2007).

Inheritance: Because this disorder is due to the ingestion of a toxin, it is not inherited. It is included in OMIA because it is a phenocopy of an inherited disorder that occurs in humans (see MIM entry above).

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2013 Van Der Kolk, H. :
[Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in the horse]. Tijdschr Diergeneeskd 138:38-9, 2013. Pubmed reference: 23847852.
2012 Sponseller, B.T., Valberg, S.J., Schultz, N.E., Bedford, H., Wong, D.M., Kersh, K., Shelton, G.D. :
Equine multiple acyl-CoA dehydrogenase deficiency (MADD) associated with seasonal pasture myopathy in the midwestern United States. J Vet Intern Med 26:1012-8, 2012. Pubmed reference: 22708588. DOI: 10.1111/j.1939-1676.2012.00957.x.
2011 Westermann, C.M., Dorland, L., van Diggelen, O.P., Schoonderwoerd, K., Bierau, J., Waterham, H.R., van der Kolk, J.H. :
Decreased oxidative phosphorylation and PGAM deficiency in horses suffering from atypical myopathy associated with acquired MADD. Mol Genet Metab 104:273-8, 2011. Pubmed reference: 21843962. DOI: 10.1016/j.ymgme.2011.07.022.
2010 van der Kolk, J.H., Wijnberg, I.D., Westermann, C.M., Dorland, L., de Sain-van der Velden, M.G., Kranenburg, L.C., Duran, M., Dijkstra, J.A., van der Lugt, J.J., Wanders, R.J., Gruys, E. :
Equine acquired multiple acyl-CoA dehydrogenase deficiency (MADD) in 14 horses associated with ingestion of Maple leaves (Acer pseudoplatanus) covered with European tar spot (Rhytisma acerinum). Mol Genet Metab 101:289-91, 2010. Pubmed reference: 20655779. DOI: 10.1016/j.ymgme.2010.06.019.
2008 Westermann, CM., Dorland, L., Votion, DM., de Sain-van der Velden, MG., Wijnberg, ID., Wanders, RJ., Spliet, WG., Testerink, N., Berger, R., Ruiter, JP., van der Kolk, JH. :
Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy. Neuromuscular Disorders 18:355-64, 2008. Pubmed reference: 18406615. DOI: 10.1016/j.nmd.2008.02.007.
2007 Westermann, C.M., de Sain-van der Velden, M.G., van der Kolk, J.H., Berger, R., Wijnberg, I.D., Koeman, J.P., Wanders, R.J., Lenstra, J.A., Testerink, N., Vaandrager, A.B., Vianey-Saban, C., Acquaviva-Bourdain, C., Dorland, L. :
Equine biochemical multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of rhabdomyolysis. Mol Genet Metab 91:362-9, 2007. Pubmed reference: 17540595. DOI: 10.1016/j.ymgme.2007.04.010.
1959 Staron, T. :
Contribution a l'etude de la pathogenie et du traitement de la myoglobinurie paroxystique due cheval Revue de Medecine Veterinaire 110:892-, 1959.

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  • Created by Frank Nicholas on 08 Sep 2008
  • Changed by Carrie Finno on 11 Dec 2013