Inherited Erythrocyte Pyruvate Kinase Deficiency in a Beagle Dog

Giger, Urs; Mason, G. D.; Wang, Ping

doi:10.1111/j.1939-165x.1991.tb00572.x

Cited by 20 publications

(23 citation statements)

References 6 publications

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“…As in previous reports, these WHWTs, initially presented with minimal clinical signs or only mild signs of exercise intolerance. The clinical findings of pale mucous membranes and hepatosplenomegaly were similar to previous reports [2,6,8,11,13-15]. Typically, review of the blood smear demonstrates evidence of enhanced erythropoiesis (polychromasia, nucleated RBCs) and echinocytes and other poikilocytes are not seen.…”

Section: Discussionsupporting

confidence: 87%

“…Specifically, PK-deficiency causes severe but chronic haemolytic anaemia with osteosclerosis and hemosiderosis/-chromatosis. PK-deficiency has been described in Basenjis [5], Beagles [6-8], West Highland white terriers (WHWTs) [9-11], Cairn terriers [12], miniature Poodles [1], Eskimo toys, pugs and Labrador retrievers from the USA [1] and Dachshunds in Germany [1]. The frequency of PK-deficiency in each breed remains unknown as comprehensive surveys have not yet been undertaken to date.…”

Section: Introductionmentioning

confidence: 99%

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Erythrocyte pyruvate kinase deficiency in three West Highland white terriers in Ireland and the UK

Juvet

Giger

Battersby³

et al. 2013

Ir Vet J

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Erythrocyte pyruvate kinase (PK) deficiency is described for the first time in three apparently unrelated West Highland white terriers (WHWT) from Ireland and the UK. All three dogs were diagnosed with markedly regenerative but persistent anaemia and had been treated for presumed immune-mediated haemolytic anaemia (IMHA) before hereditary erythrocyte PK-deficiency was confirmed by breed-specific DNA mutation analysis. This hereditary erythroenzymopathy causes haemolytic anaemia and affects several canine breeds with varying degrees of severity. Although eventually causing osteosclerosis, haemosiderosis and death, PK-deficient dogs can adapt to their anaemia for many years.PK-deficiency should be considered in anaemic WHWTs worldwide particularly in dogs with haemolytic anaemia where evidence for an immune-mediated, infectious or toxic underlying cause is lacking.

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Section: Discussionsupporting

confidence: 87%

Section: Introductionmentioning

confidence: 99%

Erythrocyte pyruvate kinase deficiency in three West Highland white terriers in Ireland and the UK

Juvet

Giger

Battersby³

et al. 2013

Ir Vet J

Self Cite

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“…This canine disease is inherited as an autosomal recessive trait and metabolic screening programmes to identify affected dogs and heterozygotes (carriers), and appropriate breeding programmes have effectively reduced its prevalence in the basenji breed Teng 1975, Andreson 1977a). However, four unrelated affected basenjis have recently been identified in the United States of America (Giger and Noble 1990).…”

Section: Introductionmentioning

confidence: 99%

Inherited erythrocyte Syruvate kinase eficiency in the West Highland white terrier

Chapman

Giger

1990

J of Small Animal Practice

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An eight‐month‐old male West Highland white terrier (WHWT) presented with mild exercise intolerance and splenomegaly caused by a severe and highly regenerative haemolytic anaemia that persisted until the dog died at two years of age. There was marked erythroid hyperplasia in the bone marrow and progressive osteosclerosis. Erythrocyte pyruvate kinase (PK) deficiency was confirmed by demonstrating a block in glycolysis at the PK step, abnormal erythrocyte PK kinetics, absence of R‐type PK isoenzyme, and the presence of M2‐type PK not normally expressed in erythrocytes. From the study of family members it is concluded that erythrocyte PK deficiency in the WHWT is inherited as an autosomal recessive trait. Heterozygotes have about half‐normal erythrocyte PK activity, do not express the M2‐type PK isoenzyme and are asymptomatic. This disease closely resembles erythrocyte PK deficiency in the basenji breed and should be considered as a differential diagnosis in young dogs with severe haemolytic anaemia.

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“…In humans, most mutations are located in the coding sequences of PKLR , with missense, deletions, insertions, splice defects, premature stop codons and promoter mutations, being common. Humans, mice, dogs and cats have been documented to have PK deficiency [22,23,25,27,29,32,41-43]. In cats, the disease was first reported in Abyssinians and their longhaired morph, the Somali, as well as in random bred cats [31,32].…”

Section: Discussionmentioning

confidence: 99%

“…In humans, over 190 PK mutations have been identified [13-21]. PK deficiency has also been clinically characterized in several canine small-breed dogs including: Basenji [22], Beagle [23], Dachshound [24], Cairn Terrier [25], Pug [26], and West Highland White Terrier [27]. To date, affected large breed dogs have been restricted to Labrador Retrievers [26].…”

Section: Introductionmentioning

confidence: 99%

Erythrocyte Pyruvate Kinase Deficiency mutation identified in multiple breeds of domestic cats

Grahn

Penedo

et al. 2012

BMC Vet Res

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BackgroundErythrocyte pyruvate kinase deficiency (PK deficiency) is an inherited hemolytic anemia that has been documented in the Abyssinian and Somali breeds as well as random bred domestic shorthair cats. The disease results from mutations in PKLR, the gene encoding the regulatory glycolytic enzyme pyruvate kinase (PK). Multiple isozymes are produced by tissue-specific differential processing of PKLR mRNA. Perturbation of PK decreases erythrocyte longevity resulting in anemia. Additional signs include: severe lethargy, weakness, weight loss, jaundice, and abdominal enlargement. In domestic cats, PK deficiency has an autosomal recessive mode of inheritance with high variability in onset and severity of clinical symptoms.ResultsSequence analysis of PKLR revealed an intron 5 single nucleotide polymorphism (SNP) at position 304 concordant with the disease phenotype in Abyssinian and Somali cats. Located 53 nucleotides upstream of the exon 6 splice site, cats with this SNP produce liver and blood processed mRNA with a 13 bp deletion at the 3’ end of exon 5. The frame-shift mutation creates a stop codon at amino acid position 248 in exon 6. The frequency of the intronic SNP in 14,179 American and European cats representing 38 breeds, 76 western random bred cats and 111 cats of unknown breed is 6.31% and 9.35% when restricted to the 15 groups carrying the concordant SNP.ConclusionsPK testing is recommended for Bengals, Egyptian Maus, La Perms, Maine Coon cats, Norwegian Forest cats, Savannahs, Siberians, and Singapuras, in addition to Abyssinians and Somalis as well an any new breeds using the afore mentioned breeds in out crossing or development programs.

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Inherited Erythrocyte Pyruvate Kinase Deficiency in a Beagle Dog

Cited by 20 publications

References 6 publications

Erythrocyte pyruvate kinase deficiency in three West Highland white terriers in Ireland and the UK

Erythrocyte pyruvate kinase deficiency in three West Highland white terriers in Ireland and the UK

Inherited erythrocyte Syruvate kinase eficiency in the West Highland white terrier

Erythrocyte Pyruvate Kinase Deficiency mutation identified in multiple breeds of domestic cats

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