What is PKDef?
Pyruvate kinase deficiency (PKDef) is an inherited hemolytic anemia caused by a defect in the enzyme pyruvate kinase. Signs in affected dogs may include lack of energy and fatigue in dogs that appear otherwise fit.
What happens in pyruvate kinase deficiency?
Pyruvate kinase enzyme breaks down a chemical compound called adenosine triphosphate (ATP). Because this enzyme is deficient, there is a lack of ATP. This leads to dehydration of red blood cells and abnormal red cell shapes. The altered red blood cell has a shortened lifespan leading to hemolytic anemia.
What is pyruvate kinase deficiency cats?
Erythrocyte pyruvate kinase deficiency (PK deficiency) is an inherited hemolytic anemia that has been documented in the Abyssinian and Somali breeds as well as random bred domestic shorthair cats. The disease results from mutations in PKLR, the gene encoding the regulatory glycolytic enzyme pyruvate kinase (PK).
Why does pyruvate kinase deficiency occur?
Pyruvate kinase deficiency is caused by mutations in the PKLR gene. The PKLR gene is active in the liver and in red blood cells, where it provides instructions for making an enzyme called pyruvate kinase. The pyruvate kinase enzyme is involved in a critical energy-producing process known as glycolysis.
Is there a cure for pyruvate kinase deficiency?
Allogeneic hematopoietic stem cell transplantation (HSCT) can cure PK deficiency. This has been pursued in a limited number of individuals, particularly individuals who require chronic blood transfusions.
How do you treat pyruvate kinase deficiency in cats?
Treatment of Pyruvate Kinase Deficiency in Cats As red blood cells carry oxygen to the various organs in the body, a feline may be hospitalized to receive oxygen therapy. The spleen may enlarge so much in a cat with pyruvate kinase deficiency that the veterinarian will recommend a splenectomy, or removal or the spleen.
What is SMA in cats?
Spinal muscular atrophy (SMA) is a genetic disorder of Maine Coon cats. It causes the loss of spinal cord neurons (nerves) that control muscles in the limbs. This leads to muscle weakness and clinical signs become apparent by 3-4 months of age.
Is pyruvate kinase deficiency fatal?
In people with pyruvate kinase deficiency, hemolytic anemia and associated complications may range from mild to severe. Some affected individuals have few or no symptoms. Severe cases can be life-threatening in infancy, and such affected individuals may require regular blood transfusions to survive.
What causes low pyruvate levels?
PC deficiency is caused by changes (mutations) in the pyruvate carboxylase (PC) gene resulting in a missing or decreased amount of pyruvate carboxylase enzyme. This enzyme functions in the energy producing centers of cells (mitochondria) to make oxaloacetate.
Is PK deficiency fatal?
How are evoked potential tests used to diagnose MS?
Three evoked potential tests can be used to diagnose MS. They each use electrodes on your scalp and track responses to different stimuli. 8 Visual Evoked Potentials (VEPs): Find optic nerve damage by measuring the response to flashing lights.
Are there any tests that can diagnose MS?
No single test can diagnose MS. The medical history, neurologic exam and lab tests help healthcare providers rule out other diseases and confirm the MS diagnosis. The Partners in MS Care program recognizes and supports quality MS care.
What kind of dogs are affected by pkdef?
Testing for the PKDef mutations found in Beagle, Pug, and West Highland White Terrier breeds can assist owners and breeders in identifying affected and carrier dogs. Breeders can use results from the test as a tool for selection of mating pairs to avoid producing affected dogs.
What causes pyruvate kinase deficiency ( pkdef )?
Pyruvate kinase deficiency (PKDef) is an inherited hemolytic anemia caused by a defect in the enzyme pyruvate kinase. Loss of function of this enzyme results in premature death of red blood cells.