What is PFK in Springer Spaniels?
PFK- Phosphofructokinase Deficiency Canine Phosphofructokinase (PFK) deficiency is an autosomal recessive genetic disease which prevents the metabolism of glucose into available energy resulting in exercise intolerance and muscle disease in Cocker Spaniels.
How is Phosphofructokinase deficiency in dogs treated?
The only way to treat phosphofructokinase deficiency, however, is through bone marrow transplantation, which is expensive and requires a healthy donor.
Why do dogs with PFK find it difficult to exercise?
Phosphofructokinase is an important enzyme that aids in the metabolism levels of dogs within their red blood cells and the muscles. It is needed for exercise and energy consumption. When dogs have a deficiency in this enzyme, they have difficulty being active and exhibit adverse reactions and symptoms to being active.
What is familial nephropathy?
Familial nephropathy describes a disease of the kidneys that is inherited in Cocker spaniels and is one in which young dogs suffer from early-onset kidney failure. Familial nephropathy is progressive and ultimately fatal, since the damage to the kidneys is irreparable and eventually the kidneys cease to function.
What is PK deficiency?
Pyruvate kinase deficiency is a genetic blood disorder characterized by low levels of an enzyme called pyruvate kinase, which is used by red blood cells . Without pyruvate kinase, red blood cells break down too easily, resulting in low levels of these cells ( hemolytic anemia ).
What is PRA dog?
Progressive retinal atrophy (PRA), is a group of degenerative diseases that affect these photoreceptor cells. With this disease, the cells deteriorate over time, eventually leading to blindness in the affected dog.
What causes PFK deficiency?
Phosphofructokinase deficiency is caused by a genetic defect in the phosphofructokinase enzyme, which affects the breakdown of glucose (sugar). For more, see Causes/Inheritance.
How do you test for PK deficiency?
For the specific diagnosis of PK deficiency, further blood tests to measure pyruvate kinase enzyme activity may be necessary. Your doctor will take a blood sample to send to a specialized laboratory to ensure the accuracy of the test. Most people with PK deficiency have 5–25% of the normal enzyme activity.
What causes hereditary Elliptocytosis?
Hereditary elliptocytosis is caused by a genetic change in either the EPB41, SPTA1, or SPTB gene , and is inherited in an autosomal dominant pattern. Hereditary pyropoikilocytosis is a related condition with more serious symptoms, and is inherited in an autosomal recessive pattern.
