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Congenital Methemoglobinemia (Poodle and Pomeranian Type)

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Description:

Congenital Methemoglobinemia (Poodle/Pomeranian Type) is a hereditary condition that primarily affects Poodles and Pomeranians, although it can occur in other breeds as well. This condition is also known as "Type I congenital methemoglobinemia" in veterinary literature. Here's a brief description. Symptoms include Blue or Brown Gums and Mucous Membranes; Lethargy: Affected dogs may appear weak or lethargic because their blood is unable to transport oxygen effectively, leading to a reduced oxygen supply to tissues and organs. Exercise Intolerance: Dogs with congenital methemoglobinemia may tire easily during physical activity due to their reduced ability to deliver oxygen to muscles. Respiratory Distress: In severe cases, dogs may experience difficulty breathing (dyspnea) because of inadequate oxygen transport.

Test Overview:

An autosomal recessive blood disease. Symptoms include a lack of ability to distribute oxygen through the body. Not considered to be lethal or requiring veterinary intervention symptoms can be an intolerance to physical activity eg. exercise

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

CYB5R3

Variant Detected:

chr10:22836951 (canFam3): A/C

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive with Incomplete Penetrance

Research Citation(s):

https://onlinelibrary.wiley.com/doi/full/10.1111/jvim.15435 Zhou S, Tearle R, Jozani RJ, Winra B, Schaaf O, Nicholson A, Peaston A. Genetic cause for congenital methemoglobinemia in an Australian Pomeranian dog. J Vet Intern Med. 2019 Mar;33(2):868-873. doi: 10.1111/jvim.15435. [PubMed: 30767280]

Associated Breed(s):

Cavoodle, Double Doodle, Dwarf Poodle, Groodalier, Groodle, Miniature Poodle, Moyen Poodle, Pomeranian, Spoodle, Standard Poodle, Toy Poodle,

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