What is the human equivalent of Pyruvate Kinase (PK) Deficiency (Discovered in the Beagle)?

OMIA links Pyruvate Kinase (PK) Deficiency (Discovered in the Beagle) to its human counterpart in OMIM (OMIM 266200), the bridge to the deeper human-medicine literature for the same underlying biology.

Canine Mendelian disease record

Pyruvate Kinase (PK) Deficiency (Discovered in the Beagle)

Q: How is Pyruvate Kinase (PK) Deficiency (Discovered in the Beagle) inherited in dogs?

Pyruvate Kinase (PK) Deficiency (Discovered in the Beagle) follows a Autosomal recessive inheritance pattern. It has been observed in 5 of 266 breeds screened in the Sniff Atlas.

Q: How well studied is Pyruvate Kinase (PK) Deficiency (Discovered in the Beagle) in dogs?

OMIA curates 17 peer-reviewed references for Pyruvate Kinase (PK) Deficiency (Discovered in the Beagle). The full, linked citation list is on this page.

Pyruvate Kinase (PK) Deficiency (Discovered in the Beagle). Autosomal recessive. Observed in 5 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,665 dogs (Donner 2023). Per-dog phenotype outcome depends on penetrance, modifiers, and environment; the carrier frequencies below describe variant prevalence, not disease incidence.

OMIA identifier: OMIA:000844-9615
Inheritance: Autosomal recessive
Source dataset: Sniff Atlas v1.0.1 / DOI

The human connection

A model of human pyruvate kinase deficiency of red cells

This is the canine counterpart of pyruvate kinase deficiency of red cells in people. That makes affected dogs a naturally-occurring model of the human disease, and it is part of why studying dogs moves medicine forward for everyone. It does not mean your dog has the human disease. It means the two share an underlying biology.

In people, the disease is described as: A rare, genetic metabolic disorder due to pyruvate kinase deficiency characterized by a variable degree of chronic nonspherocytic hemolytic anemia resulting in a variable clinical manifestations ranging from fatal anemia at birth to a to a fully compensated hemolysis without apparent anemia.

In humans it is also called: PK deficiency, Pyruvate Kinase Deficiency, pyruvate kinase deficiency, pyruvate kinase deficiency of erythrocyte, pyruvate kinase deficiency of erythrocytes.

MONDO:0009950 OMIM 266200

Mapped from OMIA via the human disease's OMIM entry to the Mondo Disease Ontology (Monarch Initiative, CC-BY 4.0). Sniff renders this as a model-of link; the canine disease remains the subject of this page.

About this disease

From OMIA's curated record

Documented in OMIA (Online Mendelian Inheritance in Animals). This describes the disease as recorded in the published literature, not a prediction for any individual dog. As of 2026-06-03.

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

Clinical features

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).

Molecular genetics

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 10 of the same gene (Skelly et al., 1999). Gultekin et al. (2012) reported three new causative mutations in the canine PKLR gene: a nonsense mutation (c.799C>T; omia.variant:896) in Labrador Retrievers, a missense mutation (c.848T>C; omia.variant:894) in Pugs, and a missense mutation (c.994G>A; omia.variant:895) in Beagles.
Ma et al. (2025) report a substituion in a Miniature Schnauzer Terrier (omia.variant:1860) with non-spherocytic hemolytic anaemia. The variant results in a premature stop codon in exon 8 which alters pre-mRNA splicing through nonsense-associated altered splicing resulting in skipping of exon 8 and a frameshift.

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).

Human analog

OMIA links this condition to its human counterpart in OMIM (Mendelian Inheritance in Man), the place to read across to the deeper human literature for the same biology.

Disease · OMIM 266200 Gene · OMIM 609712

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:000844-9615, doi:10.25910/2AMR-PV70 (CC-BY 4.0).

Signs & cross-references

How it presents

Catalogued in the Mondo disease ontology (the cross-species disease identity used by the Monarch Initiative) as pyruvate kinase deficiency of red cells (MONDO:0009950).

Phenotype terms: Human Phenotype Ontology + Mammalian Phenotype Ontology; disease terms: Mondo (Monarch Initiative). Cross-references curated by OMIA (doi:10.25910/2AMR-PV70, CC-BY 4.0).

The evidence

Published references

The peer-reviewed papers behind this disease, curated by OMIA. Starred entries are OMIA-designated landmark papers. Showing 6 of 17.

From mutation to manifestation: Evaluation of a PKLR gene truncation caused by exon skipping in a Schnauzer terrier. · Animals (Basel) · 2025 · PMID 41463922
Stem cell selection in vivo using foamy vectors cures canine pyruvate kinase deficiency. · PLoS One · 2012 · PMID 23028826
Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and seconday hemochromatosis in dogs. · J Vet Intern Med · 2012 · PMID 22805166
Pathogenesis, laboratory diagnosis, and clinical implications of erythrocyte enzyme deficiencies in dogs, cats, and horses. · Vet Clin Pathol · 2006 · PMID 16783707
Adoptive immunotherapy to increase the level of donor hematopoietic chimerism after nonmyeloablative marrow transplantation for severe canine hereditary hemolytic anemia. · Biol Blood Marrow Transplant · 2003 · PMID 14652850
Identification of a 6 base pair insertion in West Highland White Terriers with erythrocyte pyruvate kinase deficiency · American Journal of Veterinary Research · 1999 · PMID 10490091

References curated by OMIA (Nicholas, Tammen & the Sydney Informatics Hub), doi:10.25910/2AMR-PV70 (CC-BY 4.0). Full list at the OMIA entry.

Predict a litter

Set each parent's status for Pyruvate Kinase (PK) Deficiency (Discovered in the Beagle) and see the odds for their puppies. Single recessive variant, exact Mendelian math.

Parent A

Parent B

NNClear

NmCarrier

mmAffected

Clear25%

Carrier50%

Affected25%

These are the genetic odds for one known variant, not a promise: a real litter varies around them, and penetrance or other genes can change whether the condition ever appears. Use it to avoid pairing two carriers and to keep a line healthy, not to engineer a dog. Inheritance mode per OMIA.

Your breed

See what Pyruvate Kinase (PK) Deficiency (Discovered in the Beagle) looks like in your dog's breed.

Carrier frequency by breed

Top 5 well-sampled breeds (n ≥ 50)

Maximum carrier frequency per breed across variants in the Donner 2023 cohort, with Wilson 95% confidence intervals. The list below is split into well-sampled breeds (n ≥ 50 tested) and small-sample breeds (n < 50, where the Wilson CI typically spans more than 20 percentage points and frequencies should not be compared directly to the well-sampled entries). Frequencies are population-level, not per-litter or per-line.

0%1%2%

Beagle0.16% · n 5,292

0.16%n 5,292

West Highland White Terrier<0.1% · n 658

<0.1%n 658

Maltese<0.1% · n 2,413

<0.1%n 2,413

Pug<0.1% · n 5,154

<0.1%n 5,154

German Shepherd<0.1% · n 15,648

<0.1%n 15,648

n = 29,165 dogs · Donner et al. 2023 carrier-screening cohort · Sniff Atlas

Each bar is one well-sampled breed; the whisker is its Wilson 95% CI, and fainter bars have wider intervals. Frequencies are population-level, not per-litter. Carrier status for Pyruvate Kinase (PK) Deficiency (Discovered in the Beagle) is measured; phenotype outcome depends on penetrance and modifiers.

▸ Full table with Wilson 95% confidence intervals

Breed	Carrier frequency	Wilson 95% CI	n tested
Beagle	0.16%	[0.1%, 0.3%]	5,292
West Highland White Terrier	<0.1%	[0.0%, 0.7%]	658
Maltese	<0.1%	[0.0%, 0.2%]	2,413
Pug	<0.1%	[0.0%, 0.1%]	5,154
German Shepherd	<0.1%	[0.0%, 0.0%]	15,648

261 additional breeds in the Donner 2023 cohort were tested but showed no carriers.

Scope of this record

This record carries the breed-level carrier frequencies from the Donner 2023 cohort. Penetrance data (the fraction of at-risk dogs that develop the phenotype) is not yet quantified for this disease in the Sniff Atlas v1.0.1. The OMIA entry is the authoritative reference for the clinical phenotype, inheritance pattern, and gene assignment.

Predicted disease relevance at the per-dog level is UNPROVEN. The carrier frequency is measured; phenotype outcome depends on penetrance, environment, and modifier loci. Consult a veterinarian for clinical interpretation.

How to cite this record

If you use this record in published work, cite the Sniff Atlas (the published dataset that carries the breed-level carrier frequencies) and the upstream sources:

Sniff Atlas v1.0.1 for the per-breed carrier frequencies:
Gehring, M. (2026). Sniff Atlas v1.0.1. Zenodo. https://doi.org/10.5281/zenodo.20566358. CC-BY 4.0.
OMIA for the disease definition, inheritance, and gene assignment:
Nicholas, F. W., & Tammen, I. (2024). OMIA. Sydney Informatics Hub, The University of Sydney. https://doi.org/10.25910/2AMR-PV70. Entry: OMIA:000844-9615.
Donner et al. 2023 for the breed × variant carrier-frequency cohort:
Donner, J., Freyer, J., Davison, S., Anderson, H., Blades, M., Honkanen, L., et al. (2023). Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. PLOS Genetics, 19(2), e1010651. https://doi.org/10.1371/journal.pgen.1010651.

Full citation formats (BibTeX, RIS, CITATION.cff) at sniff.world/cite.

Sniff Atlas v1.0.1, the source dataset for these frequencies.
Browse breeds, per-breed Mendelian profiles, including this disease in context.
OMIA entry OMIA:000844-9615, authoritative clinical reference.
About OMIA, the catalogue this record comes from, and how Sniff uses it.

Last updated June 20, 2026

Sources: Sniff Atlas v1.0.1 · OMIA OMIA:000844-9615 · Donner et al. 2023