Dog hereditary diseases

Description
Hereditary disease, leading to a general weakening of the dog's body. Phosphofructokinase (PFK) is an enzyme that plays a key role in obtaining energy from sugars (mainly glucose) in various types of cells in the body, especially in red blood cells and muscle cells. Lack of enzyme leads to disruptions in obtaining energy available to cells. The disease manifests itself in the premature destruction of red blood cells and reduced exercise tolerance. It is accompanied by mild life-long anemia (low red blood cell count), muscle weakness, especially with exercise, cramps and spasms. The disease is widespread among English Springer Spaniels and American Cocker Spaniels, with the frequency of the faulty gene in these breeds being 10% of all spaniels. Unfortunately, despite its widespread use, an effective treatment for the disease has not been developed. Inheritance. The disease is inherited in an autosomal recessive manner.

Diagnostics
A genetic test has been developed to diagnose defects in FFK spaniels. The study can be carried out at any age: for both puppies and adult dogs. When testing, a mutation in DNA is analyzed, leading to the development of a disease. Genetic testing allows with 100% certainty to determine the defective (mutant) copy of the gene and the normal copy of the gene. The test result is the definition of the genotype, which allows you to divide animals into three groups: Healthy (homozygotes for a normal copy of the gene), Carriers (heterozygotes) and Sick (homozygotes for a mutation).