Pyruvate Kinase Deficiency Beagle (PKD-BEA)
Pyruvate Kinase Deficiency of Erythrocytes, PK Deficiency
Pyruvate Kinase Deficiency (PKD) is a disorder that affects red blood cells due to a mutation in an important enzyme needed for metabolism. This defect leads to red blood cell death that results in severe hemolytic anemia. Symptoms of PKD are typically exhibited between four to twelve months of age and can include weakness, lack of energy, rapid heart rate, heart murmurs, pale gums, and stunted growth. With further progression, bones and the liver can be affected ultimately leading to death. Dogs with PKD commonly die before the age of 4 years but longevity can vary based on the breed of dog with some breeds able to survive longer than others. While there is currently no cure for PKD, it is possible for affected dogs to have a reasonable quality of life with the proper care. Carrier dogs do not typically show symptoms of the disease and it may be difficult to detect clinical signs of the condition in inactive affected dogs so it is useful to test for the presence of the mutation before breeding. PKD was originally documented in Basenjis and has since been reported in other breeds, including Dachshunds, Labrador Retrievers, Pugs, Beagles, Cairn Terriers, and West Highland White Terriers. There are a number of mutations leading to PKD and are different based on breed.
Reading Your Results
A. (CLEAR/NORMAL):
These dogs have two copies of the normal gene and will neither develop Pyruvate Kinase Deficiency nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will typically not develop symptoms of Pyruvate Kinase Deficiency and will, if bred, pass the mutation to 50% of its offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation associated with Pyruvate Kinase Deficiency which can result in hemolytic anemia.
Additional Details
Inheritances
Autosomal Recessive
Affected gene
PKLR
Chromosome
Ch. 7
Mutation
Chr7:42268927 (CanFam3): G>A
Publication:
Inal Gultekin G, Raj K, Foureman P, Lehman S, Manhart K, Abdulmalik O, Giger U. Erythrocytic Pyruvate Kinase Mutations Causing Hemolytic Anemia, Osteosclerosis, and Secondary Hemochromatosis in Dogs. J Vet Intern Med. 2012 Jul-Aug;26(4):935-44. [PubMed: 22805166]
