Phosphofructokinase deficiency
Hereditary
An inherited muscle and red-cell enzyme deficiency caused by mutations in the PFKM gene, leading to exercise intolerance and episodic hemolytic crises. It is classically seen in English Springer Spaniels and Cocker Spaniels. Hyperventilation and excitement can trigger red-cell breakdown and dark urine.
Quick facts
- Type:
- Genetic
- Typical onset:
- Chronic
- Body systems:
- Hemolymphatic, Muscular
- Affected species:
- DOG
Sources & references
- Merck Veterinary Manual — Covers phosphofructokinase deficiency as an inherited metabolic disorder in dogs.
- OMIA — OMIA phene entry for phosphofructokinase deficiency associated with PFKM in the dog.
This content is for educational purposes and is not a substitute for professional veterinary advice. If you are worried about your pet, contact your veterinarian.