In other species: domestic cat

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: no

Considered a defect: yes

Key variant known: no

Cross-species summary: Abbreviation is MADD; also known as glutaric acidemia II or Glutaric Aciduria Type 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) and in cats (see OMIA 001457-9685).

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing