Disease Ontology ID: DDTO:0001287

Disease Description: A deficiency of a specific red blood cell enzyme. Most commonly seen in basenjis; also in beagles and Cairn terriers.

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 are clinically unaffected.

Disease Symptom: Dogs with PK deficiency usually show signs by 4 months to 1 year of age. Because of the severe anemia (low levels of red blood cells), affected dogs are slow to grow, and show a mild weakness and a low tolerance for exercise.Unfortunately these dogs also gradually develop changes in their bones, specifically replacement of the bone marrow with fibrous tissue, and hardening or abnormal density of bone (called myelofibrosis and osteosclerosis). Dogs with pyruvate kinase deficiency usually die before 4 years of age, due to bone marrow failure and/or liver disease.

Disease Cause: -

Disease Diagnose: Signs of anemia include pale mucous membranes (your dog's gums for example), an increased heart rate and a reduced tolerance for exercise. Your veterinarian will do blood tests to determine the cause of the anemia which in this disorder is due to increased red blood cell breakdown. Further tests will be required to diagnose this specific condition as the cause of the hemolytic anemia.

Treat Method: There is no specific treatment for this disorder, other than supportive care as necessary.

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