Methaemoglobinaemia, CYB5R3-related
Also known as: Methemoglobinemia · Congenital Methemoglobinemia · Cytochrome b5 reductase deficiency · CYB5R3 deficiency · Erythrocyte methemoglobin reductase deficiency · …
Overview
What it is
This is an inherited blood disorder where a deficiency in a specific enzyme, cytochrome b5 reductase, impairs the red blood cells' ability to carry oxygen. Without this enzyme, an abnormal form of hemoglobin—the protein responsible for transporting oxygen—builds up in the bloodstream, reducing the amount of oxygen delivered to the body's tissues.
How it presents
Symptoms typically appear during puppyhood or adolescence. Owners may notice a bluish tint to the gums and tongue, rapid tiring, shortness of breath, and general weakness during physical activity.
Treatment
The condition is not curable but can be managed long-term with daily antioxidant therapy, such as Vitamin C. This lifelong management is generally straightforward, with expected lifetime costs ranging from 1,000 to 3,500 EUR.
How it's tested
Kongenitale Methämoglobinämie DNA-Test(CYB5R3)
Primary testDNA testEin DNA-Test identifiziert die ursächliche Mutation im CYB5R3-Gen, die zu einem Mangel an Cytochrom-b5-Reduktase und somit zur kongenitalen Methämoglobinämie führt.
Issuing body: Feragen
Result scheme: Clear/Carrier/Affected
CYB5R3-Methämoglobinämie DNA-Test(CYB5R3)
Primary testDNA testEin Gentest zum Nachweis der Mutation im CYB5R3-Gen, die zu einem Mangel an Cytochrom-b5-Reduktase und damit zu Methämoglobinämie führt.
Issuing body: Embark
Result scheme: Clear/Carrier/Affected
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Methaemoglobinaemia, CYB5R3-related?
This is an inherited blood disorder where a deficiency in a specific enzyme, cytochrome b5 reductase, impairs the red blood cells' ability to carry oxygen. Without this enzyme, an abnormal form of hemoglobin—the protein responsible for transporting oxygen—builds up in the bloodstream, reducing the amount of oxygen delivered to the body's tissues.
How is Methaemoglobinaemia, CYB5R3-related tested?
Tests currently in our database: Kongenitale Methämoglobinämie DNA-Test, CYB5R3-Methämoglobinämie DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.