Toy American Eskimo Dog — Pyruvate kinase deficiency of erythrocyte (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_toy_american_eskimo_dog_omia1515_dog category: companion-breed-health title: "Toy American Eskimo Dog — Pyruvate kinase deficiency of erythrocyte (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/toy_american_eskimo_dog_omia1515_1515.txt date_parsed: 2026-08-02 tokens_estimated: 552 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_toy_american_eskimo_dog_omia1515_dog/01_companion_breed_health_toy_american_eskimo_dog_omia1515_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Toy American Eskimo Dog — Pyruvate kinase deficiency of erythrocyte (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000844/9615/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false

Toy American Eskimo Dog — Pyruvate kinase deficiency of erythrocyte (hereditary; OMIA-verified breed predisposition)

Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.

Claims

• Breed: Toy American Eskimo Dog (Dog)
• Disorder:
• Mode of inheritance: Autosomal recessive
• Summary: In pyruvate kinase deficiency, the erythrocyte life span is markedly reduced, which leads to severe regenerative hemolytic anemia. Clinical signs include intermittent weakness, moderate hepatosplenomegaly at less than one year of age and bone marrow and liver failure by 5 years of age. Pyruvate kinase deficiency has been identified in multiple breeds. The mode of inheritance is autosomal recessive. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT
• Clin feat: Affected dogs present as young adults with signs of severe macrocytic hypochromic regenerative hemolytic anemia, such as intermittent weakness. Moderate hepatosplenomegaly occurs by one year of age, followed by progressive osteosclerosis and myelofibrosis. Bone marrow and liver failure typically occur by 5 years of age. Carriers have no clinical signs, but have half-normal levels of erythrocyte pyruvate kinase activity (Giger et al., 1991). Bone marrow transplants have been used to alleviate clinical signs in affected dogs (Takatu et al., 2003).
• Defect: yes
• Pathology: Red blood cells are dependent on ATP generated through glycolysis to maintain their Na/K pumps. Pyruvate kinase is a key enzyme in anaerobic glycolysis, converting phosphoenolpyruvate to pyruvate. Deficiency leads to inadequate ATP production, erythrocyte lysis or premature erythrocyte destruction by the spleen. Normal canine erythrocyte life span is approximately one month, whereas in affected dogs, the erythrocyte half-life is a few days (Giger et al., 1991). There are DNA tests available to detect the known causative mutations in basenjis and West Highland white terriers. Tests for erythrocyte pyruvate kinase activity are not accurate for diagnosis. There are other isoforms of pyruvate kinase in the dog that are encoded by different genes. The R-type is the only isoform expressed in normal canine erythrocytes. Affected dogs lack the R isoform, but enzyme activity in their erythrocytes typically appears elevated due to activity of the M2 isoform, (Whitney et al., 2005).

Associated gene(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• Gene: Entrez Gene ID 406183 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Whitney et al. (1994) showed that the causative mutation in Basenjis is a single base-pair deletion (omia.variant:897) in exon 5 of the gene encoding R-type pyruvate kinase (PKLR). The causative mutation in West Highland white terriers is a 6 base pair insertion (omia.variant:898) in exon 1…

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• 1975. Pyruvate kinase deficiency anemia with terminal myelofibrosis and osteosclerosis in a Beagle. Journal of the American Veterinary Medical Association — PubMed:PMID1141034 — OMIA Phene_Article / Article
• 1969. Familial anemia in the Basenji dog. Journal of the American Veterinary Medical Association — PubMed:PMID5812576 — OMIA Phene_Article / Article
• 1990. Inherited Erythrocyte Pyruvate Kinase Deficiency in the West Highland White Terrier. Journal of Small Animal Practice — OMIA Phene_Article / Article
• 1991. Determination of Erythrocyte Pyruvate Kinase Deficiency in Basenjis with Chronic Hemolytic Anemia. Journal of the American Veterinary Medical Association — PubMed:PMID2071475 — OMIA Phene_Article / Article
• 1992. Pyruvate Kinase Deficiency Causing Hemolytic Anemia with Secondary Hemochromatosis in a Cairn Terrier. Journal of the American Animal Hospital Association — OMIA Phene_Article / Article
• 1992. Osmotic Stress in Red Blood Cells from Beagles with Hemolytic Anemia. American Journal of Veterinary Research — PubMed:PMID1510326 — OMIA Phene_Article / Article
• 1994. The molecular basis of canine pyruvate kinase deficiency. Experimental Hematology — PubMed:PMID7520391 — OMIA Phene_Article / Article
• 1995. Genetic test for pyruvate kinase deficiency of basenjis. Journal of the American Veterinary Medical Association — PubMed:PMID7559024 — OMIA Phene_Article / Article
• 1999. Erythrocyte pyruvate kinase deficiency causing chronic hemolytic anemia and osteosclerosis in a longhaired dachshund [German]. Kleintierpraxis — OMIA Phene_Article / Article
• 1999. Identification of a 6 base pair insertion in West Highland White Terriers with erythrocyte pyruvate kinase deficiency. American Journal of Veterinary Research — PubMed:PMID10490091 — OMIA Phene_Article / Article
• 1971. Congenital hemolytic anemia in the Basenji dog due to erythrocyte pyruvate kinase deficiency. Can J Comp Med — PubMed:PMID4251418 — OMIA Phene_Article / Article
• 2003. Adoptive immunotherapy to increase the level of donor hematopoietic chimerism after nonmyeloablative marrow transplantation for severe canine hereditary hemolytic anemia. Biol Blood Marrow Transplant — PubMed:PMID14652850 | DOI:10.1016/j.bbmt.2003.08.005 — OMIA Phene_Article / Article
• (5 additional references in OMIA)

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• OMIM:266200 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:609712 (type: gene) — OMIA Group_OMIM (via OMIA_ID)

verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."