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Glutaric Aciduria Type II

Glutaric Aciduria Type II causes loss of appetite, vomiting and seizures in young cats.

Key Signs

Vomiting, Lack of appetite, Seizures, Hypoglycemia, Hyperammonemia, Organic aciduria, Increased plasma fatty acids

Age of Onset

0 to 2 yrs

Juvenile onset

Inheritance

Autosomal Recessive

For autosomal recessive disorders, cats with two copies of the variant are at risk of developing the condition. Cats with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their kittens if bred.

Likelihood of the Condition

High likelihood

At risk cats are highly likely to show signs of this disease in their lifetime.

What to Do

Here’s how to care for a cat with Glutaric Aciduria Type II

Partner with your veterinarian to make a plan regarding your cat’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.

For Veterinarians

Here’s what a vet needs to know about Glutaric Aciduria Type II

Glutaric Aciduria Type II, also called Multiple Acyl-CoA Dehydrogenation Deficiency, is a hereditary mitochondrial fatty-acid oxidation disorder. Clinical signs are typically present before 6 months of age. The disease causes vomiting, hypoglycemia, hyperammonemia, diagnostic organic aciduria, and accumulation of medium- and long-chain fatty acids in plasma. Other clinical signs may include a lack of appetite and seizures.

Cats exhibiting signs of hyperammonemia require treatment directed at lowering blood ammonia levels. Long-term management of the disease involves lifelong administration of riboflavin and L-carnitine as well as any necessary supportive care dictated by the severity of clinical signs. Response to treatment may vary.

For Breeders

Planning to breed a cat with this genetic variant?

There are many responsibilities to consider when breeding cats. Regardless of test results it is important that your cat is in good general health and that you are in a position to care for the kittens if new responsible owners are not found. For first time or novice breeders, advice can be found at most cat registry websites.

This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to be shown. A carrier cat with one copy of the Glutaric Aciduria Type II mutation can be safely bred with a clear cat with no copies of the Glutaric Aciduria Type II mutation. About half of the kittens will have one copy (carriers) and half will have no copies of the Glutaric Aciduria Type II mutation. Kittens in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected kittens. Please note: It is possible that disease signs similar to the ones caused by the Glutaric Aciduria Type II mutation could develop due to a different genetic or clinical cause.

Technical Details

Gene ETFDH
Variant T>G
Chromosome B1
Coordinate 71,374,289

All coordinates reference FelCat9.0

References & Credit

Credit to our scientific colleagues:

Wakitani, S., Torisu, S., Yoshino, T., Hattanda, K., Yamato, O., Tasaki, R., Fujita, H., & Nishino, K. (2014). Multiple acyl-coa dehydrogenation deficiency (glutaric aciduria type ii) with a novel mutation of electron transfer flavoprotein-dehydrogenase in a cat. In JIMD Reports (Vol. 13, pp. 43–51). Springer. View the article