Phosphofructokinase Deficiency (PFKD)

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Phosphofructokinase Deficiency (PFKD)

Description:

Phosphofructokinase Deficiency (PKFD) is an autosomal recessive disorder that affects Cocker Spaniels. This metabolic disorder does not allow the PFK enzyme to function properly, affecting the energy-producing glycolytic cycle and destroying red blood cells. A lack of oxygen-carrying red blood cells and glucose leads the dog to experience anemia and exercise intolerance. The dog may also feel cramping of the muscles.


PFKD is a recessive disorder, so a dog can be a carrier of PFK deficiency and not display any symptoms associated with the disorder. It is estimated that at least 10% of the cocker spaniel population are obligate carriers, so testing is important to identify carriers. If two carriers of PFKD are bred, there is a 25% chance that the offspring could receive the mutated allele from each parent and be affected by the disease.

Sample Type:

Animal Genetics accepts buccal swab, blood, and dewclaw samples for testing. Sample collection kits are available and can be ordered at test now.

Testing is Relevant For the Following Breeds:

American Cocker Spaniel, English Cocker Spaniel, Cocker Spaniel

Results:

Animal Genetics offers DNA testing for PFKD allele. The genetic test verifies the presence of the mutation and presents results as one of the following:

PFKD/PFKD Affected The dog carries two copies of the mutant gene and is homozygous for PFKD. The dog will display symptoms associated with the disorder and will always pass a copy of the mutation to its offspring.
PFKD/n Carrier Both the normal and mutant copies of the gene detected. The dog is a carrier for PFKD and could pass on either allele to any offspring
n/n Clear Dog tested negative for the PFKD mutation and will not pass on the defective gene to its offspring.