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Phosphofructokinase Deficiency (PFK)
PFK Deficiency DNA Test Submission
Form
Description:
Phosphofructokinase (PFK), a major regulatory enzyme in all cells of the body,
catalyzes the metabolism of sugar, and thereby is pivotal in the production
of energy to maintain normal cell function. In particular, dogs with this enzyme
deficiency have diseased red blood cells and muscle cells. PFK deficiency can
present as mild to life-threatening episodic illness. A hallmark sign of this
disease is intermittent dark urine, with the color of the urine ranging from
orange to dark coffee-brown, which commonly develops following strenuous exercise,
prolonged barking, and extensive panting. These conditions accelerate the destruction
of red blood cells in diseased dogs, resulting in dark brown urine, and in severe
forms, pale gums (anemia) or jaundice (yellow coloration of skin and gums) with
fever and poor appetite. Particularly in field trial dogs, clinical signs of
weakness, exercise intolerance, poor performance to outright refusal to move,
and muscle cramps may be observed. Clinical manifestations usually resolve within
hours to days. Affected dogs have a relatively normal life expectancy, however,
situations that can precipitate such crises should be avoided.
This disorder is inherited as an autosomal recessive trait in
English Springer Spaniels. The same disease has also recently been found in
Cocker Spaniel and mixed breed dogs. PFK deficiency and the associated clinical
features are caused by single base pair change (mutation) in the genetic code
of the gene for the enzyme. A molecular genetic screening test for PFK deficiency
accurately determines whether a dog is affected, a carrier, or a normal dog.
Because of the intermittent and variable clinical signs
and the suspected high prevalence of PFK deficiency in the English Springer
Spaniel breed, we recommend the testing of all English Springer Spaniels used
for field trialing or breeding, or prior to purchase of a puppy and any Springer
or mixed breed dog with suggestive clinical signs.
Clinical Signs:
A hallmark sign of this disease is intermittent dark urine, with the color of
the urine ranging from orange to dark coffee-brown, which commonly develops
following strenuous exercise, prolonged barking, and extensive panting. In severe
forms, pale gums (anemia) or jaundice (yellow coloration of skin and gums) with
fever and poor appetite can be observed. Particularly in field trial dogs, clinical
signs of weakness, exercise intolerance, poor performance to outright refusal
to move, and muscle cramps may be observed. Clinical manifestations usually
resolve within hours to days.
Affected Breeds:
English Springer Spaniel
American Cocker Spaniel
Mixed Breed Dogs
Required Samples:
EDTA Blood, 1-2 mL or
2 Buccal Swabs
Price:
$75 each
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