The detail information of Phosphofructokinase deficiency
Basic Information

Disease Description: A deficiency of a specific red blood cell enzyme in English springer spaniels. Causes chronic anemia, exercise-induced acute hemolytic crises and enlarged spleen.

Inherit Mode: This is an autosomal recessive trait which means both parents of an affected dog are carriers of the disorder. Carriers have about one half normal enzyme activity in red blood cells and muscle tissue, and are clinically unaffected.

Disease Symptom: Affected dogs have a persistent mild anemia (low levels of red blood cells) for which they are generally able to compensate. Intermittently they will have acute episodes of red blood cell breakdown (hemolysis), when they become lethargic and weak. This is usually associated with intense exercise or excessive barking or panting. Their mucous membranes (eg. gums) are pale or jaundiced and they usually run a high fever. You may notice the urine is brown due to the excretion of blood breakdown products. At these times your dog will require veterinary attention. Dogs with this condition can have a normal life span. Management of this condition requires avoidance of stress, strenuous exercise, overheating and over excitement.

Disease Cause: -

Disease Diagnose: Based on clinical examination and blood tests, your veterinarian will diagnose hemolytic anemia (low levels of red blood cells due to increased breakdown) in your dog. Further tests will be required to diagnose this specific condition.

Treat Method: There is no specific treatment for this disorder, other than supportive care during an episode of bleeding (which may require a blood transfusion). Carrier and affected dogs should be removed from the breeding population. The condition can be well-managed, and your veterinarian will discuss this with you. You will need to be alert for signs associated with increased intravascular hemolysis (red cell breakdown), such as weakness, lethargy, pale or jaundiced mucous membranes, or brownish urine. It is also important to avoid stressful situations, strenuous exercise, excitement that will cause a great deal of barking, and high environmental temperatures.

Breeder Advice: Because this is an autosomal recessive trait, both parents of affected dogs carry the defective gene. Neither affected (homozygous) or carrier dogs (heterozygous) should be used for breeding. There is a DNA test that can identify carrier dogs at any age (see reference below). Many affected and carrier dogs have already been removed from the breeding population.

Disease Description Source: Link

Associated Diseases
There are no associated diseases in OMIA/CIDD.
Associated Breeds
iDog Breed Number Breed Name Personality Height Weight Breed Source
CB78 Cocker Spaniel Happy, smart, gentle 36.8-39.4 cm (male), 34.3-36.8 cm (female) 11.3-13.6 kg (male), 9.1-11.3 kg (female)
CB97 English Springer Spaniel Friendly, playful, obedient at home; hardworking and steady in the field 50.8 cm (male), 48.3 cm (female) 22.7 kg (male), 18.1 kg (female) United Kingdom (England)
CB98 English Toy Spaniel Affectionate, Alert, Merry 22.9-25.4 cm 3.6-6.4 kg England
CB256 English Whippet Calm, affectionate, and playful 48.3-55.9 cm (male), 45.7-53.3 cm (female) 11.3-18.1 kg England
References
2007 Henderson A. :
Anemia, Hemolytic Côté E, ed. Clinical Veterinary Advisor Dogs and Cats. Missouri: Mosby Elsevier, 2007:64-66.
1995 Harvey, J.W. :
Congenital hemolytic anemias and methemoglobinemias ACVIM-Proceedings of the 13th Annual Veterinary Medical Forum: 37-40
Sargan DR. :
Phosphofructokinase deficiency IDID - Inherited diseases in dogs:web-based information for canine inherited disease genetics.