Phosphofructokinase Deficiency
Phosphofructokinase (PFK) deficiency is a hereditary metabolic disorder affecting red blood cell energy metabolism, leading to intermittent hemolytic anemia and muscle issues.
Detailed Description
PFK deficiency is caused by a genetic mutation affecting the enzyme phosphofructokinase, which is critical for glycolysis in red blood cells and muscle. Deficiency causes red blood cells to break down prematurely, especially during stress or exercise, resulting in anemia, weakness, and sometimes pigmenturia.
Common Symptoms
- Exercise intolerance
- Pale mucous membranes
- Jaundice (icterus)
- Dark-colored urine (hemoglobinuria)
- Intermittent weakness
Management Options
- Avoidance of strenuous exercise and stress
- Supportive care during crises
- Blood transfusions in severe cases
Frequently Asked Questions
Is PFK deficiency curable?
No, but it can be managed with lifestyle adjustments.
Can my dog be a carrier without symptoms?
Yes, carriers show no clinical signs.
Is PFK deficiency common in other breeds?
It is rare outside of English Springer Spaniels and a few other breeds.
Can puppies be tested?
Yes, via DNA testing.
What triggers a crisis?
Exercise, excitement, or heat.
Condition Details
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Typical Age of Onset
1–5 years (young adults), but can present at any age
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Testing Available
Yes
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Diagnosing Methods
Blood tests (CBC, reticulocyte count); Enzyme assay; Genetic testing
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Preventative Measures
Genetic testing of breeding dogs; Avoid breeding carriers
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Related Conditions
Immune-mediated hemolytic anemia, Pyruvate kinase deficiency