OMIA 001457-9685 : Multiple acyl-CoA dehydrogenase deficiency in Felis catus

In other species: horse

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 231680 (trait) , 231675 (gene)

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

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."

Associated gene:

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

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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

Reference


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.

Edit History


  • Created by Frank Nicholas on 31 Mar 2022
  • Changed by Frank Nicholas on 31 Mar 2022