OMIA:001457-9685 : Multiple acyl-CoA dehydrogenase deficiency in Felis catus
In other species: horse
Categories: Homeostasis / metabolism phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 231680 (trait) , 231675 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2014
Cross-species summary: Abbreviation is MADD; also known as glutaric acidemia II or Glutaric Aciduria Type II
History: Wakitani et al. (2014) were "the first report of MADD in a cat". [Thanks to Heidi Anderson for alerting OMIA to this paper; 31 March 2022]
Molecular basis: Wakitani et al. (2014): "determined the complete cDNA sequences of feline ETFa, ETFb, and ETFDH. Finally, we identified the feline patient-specific mutation, c.692T>G (p.F231C) in ETFDH. The affected animal only carries mutant alleles of ETFDH. p.F231 in feline ETFDH is completely conserved in eukaryotes, and is located on the apical surface of ETFDH, receiving electrons from ETF. This study thus identified the mutation strongly suspected to have been the cause of MADD in this cat."
Clinical features: Wakitani et al. (2014): "The affected animal presented with symptoms characteristic of MADD including hypoglycemia, hyperammonemia, vomiting, diagnostic organic aciduria, and accumulation of medium- and long-chain fatty acids in plasma."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ETFDH||electron-transferring-flavoprotein dehydrogenase||Felis catus||B1||NC_058371.1 (69048217..69016132)||ETFDH||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1439||Multiple acyl-CoA dehydrogenase deficiency||ETFDH||missense||Naturally occurring variant||Felis_catus_9.0||B1||g.71374631A>C||c.692T>G||p.(F231C)||NM_001290236.1; NP_001277165.1||2014||24142280||Thanks to Heidi Anderson for alerting OMIA to this paper; 31 March 2022|
|2014||Wakitani, S., Torisu, S., Yoshino, T., Hattanda, K., Yamato, O., Tasaki, R., Fujita, H., Nishino, K. :|
|Multiple Acyl-CoA Dehydrogenation Deficiency (Glutaric Aciduria Type II) with a Novel Mutation of Electron Transfer Flavoprotein-Dehydrogenase in a Cat. JIMD Rep 13:43-51, 2014. Pubmed reference: 24142280 . DOI: 10.1007/8904_2013_268.|
- Created by Frank Nicholas on 31 Mar 2022
- Changed by Frank Nicholas on 31 Mar 2022