Cat (Felis catus) — Multiple acyl-CoA dehydrogenase deficiency (hereditary; OMIA-verified species predisposition)
Source: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Species: Cat (Felis catus)Disorder: Multiple acyl-CoA dehydrogenase deficiencyClin feat: 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(s)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- Gene: Entrez Gene ID 389717397 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: 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) [omia.variant:1439] 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 fro…
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- 2014. Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II) with a novel mutation of electron transfer flavoprotein-dehydrogenase in a cat. JIMD Rep — PubMed:PMID24142280 | DOI:10.1007/8904_2013_268 — OMIA Phene_Article / Article
Comparative medicine (human OMIM)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- OMIM:231680 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:231675 (type: gene) — OMIA Group_OMIM (via OMIA_ID)