Disease overview

Erythrocytic pyruvate kinase (PK) deficiency is a blood condition characterized by impaired ability to produce energy. This condition causes erythrocytes (red blood cells) to have a markedly reduced life span, which leads to anemia.

Gene name

PKLR

Inheritance

Autosomal recessive

Signs and symptoms

Signs include weakness, lethargy, yellowing skin (jaundice), and extremities that are pale and cool. As the disease progresses, iron will accumulate in the body and potentially lead to liver dysfunction. Signs are present during puppyhood, and typically lead to death around 4 years of age.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Blood testing and bone imaging or biopsy may be used to help diagnose this disease. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

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Citations

Gultekin GI, 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. doi: 10.1111/j.1939-1676.2012.00958.x. PMID: 22805166; PMCID: PMC3650904.

Whitney KM, Goodman SA, Bailey EM, Lothrop CD Jr. The molecular basis of canine pyruvate kinase deficiency. Exp Hematol. 1994 Aug;22(9):866-74. PMID: 7520391.

Skelly BJ, Wallace M, Rajpurohit YR, Wang P, Giger U. Identification of a 6 base pair insertion in West Highland White Terriers with erythrocyte pyruvate kinase deficiency. Am J Vet Res. 1999 Sep;60(9):1169-72. PMID: 10490091.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.