Disease overview

Copper is an essential mineral for proper liver function of metabolism in the body. Copper toxicosis is a metabolic disorder that is caused by copper imbalances, leading to chronic liver failure and neurological problems. Menkes disease is characterized by copper deficiency due to lack of absorption in the intestine.

Gene name

ATP7A

Inheritance

X-Linked Incomplete Dominance

Signs and symptoms

Dogs affected by Menkes disease will present with brain and cerebellar degeneration, failure to thrive, and hair and connective tissue abnormalities.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Lab work and other diagnostics to determine liver function may be indicated. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs. It is important to note that if a dog carries mutations in both the ATP7A and ATP7B genes, this genotype may have a neutralizing effect on hepatic copper levels (resulting in clinically normal levels).

Breeds at higher risk

Citations

Fieten H, Gill Y, Martin AJ, Concilli M, Dirksen K, van Steenbeek FG, Spee B, van den Ingh TS, Martens EC, Festa P, Chesi G, van de Sluis B, Houwen RH, Watson AL, Aulchenko YS, Hodgkinson VL, Zhu S, Petris MJ, Polishchuk RS, Leegwater PA, Rothuizen J. The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders. Dis Model Mech. 2016 Jan;9(1):25-38. doi: 10.1242/dmm.020263. PMID: 26747866; PMCID: PMC4728329.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.