Inherited erythrocyte Syruvate kinase eficiency in the West Highland white terrier

Chapman, Barbara; Giger, Urs

doi:10.1111/j.1748-5827.1990.tb00707.x

Cited by 17 publications

(23 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Congenital hemolytic anemia, resulting from erythrocyte pyruvate kinase (PK) deficiency, occurs in many breeds of dogs. PK deficiency was initially recognized in Basenji16–18 and Beagle dogs,19–21 but it also occurs in West Highland white terrier,22 Cairn terrier,23 miniature poodle, Chihuahua, pug, dachshund, and toy American Eskimo dogs 24,25. This deficiency is transmitted as an autosomal recessive trait.…”

Section: Pyruvate Kinase Deficiencymentioning

confidence: 99%

See 1 more Smart Citation

Pathogenesis, laboratory diagnosis, and clinical implications of erythrocyte enzyme deficiencies in dogs, cats, and horses

Harvey¹

2006

Veterinary Clinical Pathol

View full text Add to dashboard Cite

Deficiencies of enzymes involved in erythrocyte metabolism can have significant effects on erythrocyte function and survival. Animals with pyruvate kinase (PK) or phosphofructokinase (PFK) deficiencies have shortened erythrocyte life spans and regenerative anemia. PK-deficient dogs (but not PK-deficient cats) develop progressive myelofibrosis and osteosclerosis of bone marrow and hemochromatosis and cirrhosis of the liver. PFK-deficient dogs have sporadic episodes of hyperventilation-induced intravascular hemolysis and hemoglobinuria. Cytochrome b5 reductase (Cb5R) deficiency in dogs and cats results in persistent methemoglobinemia and cyanotic mucous membranes. Severe deficiency of glucose-6-phosphate dehydrogenase, the rate-controlling enzyme in the pentose phosphate pathway, resulted in anemia with eccentrocytosis in an American saddlebred colt. Horses with erythrocyte flavin adenine dinucleotide (FAD) deficiency have both eccentrocytosis (attributable to severe deficiency in glutathione reductase activity) and methemoglobinemia (attributable to Cb5R deficiency); the dual enzyme deficiency occurs because FAD is a required cofactor for both enzymes. Erythrocyte enzyme deficiencies do not usually shorten life expectancy, except for PK-deficient dogs and potentially PFK-deficient dogs during a hemolytic crisis. Although enzyme deficiencies are rare causes of anemia and methemoglobinemia, the ability to diagnose deficient animals allows for the possibility of eliminating these undesirable traits in future breeding. DNA-based assays are available for PK and PFK deficiencies; whereas, biochemical tests of enzyme activity are required for other deficiencies. Continued research is needed to document additional enzyme deficiencies that likely occur and to develop additional DNA-based assays to detect heterozygous animals.

show abstract

Section: Pyruvate Kinase Deficiencymentioning

confidence: 99%

“…Although erythrocytes in heterozygous dogs have approximately half of the normal PK activity, erythrocytes in most homozygous dogs have normal or increased PK activity 22,29. Erythrocytes of affected dogs lack the normal adult R isozyme of PK, but have a persistence of an M 2 isozyme of PK.…”

Section: Pyruvate Kinase Deficiencymentioning

confidence: 99%

Pathogenesis, laboratory diagnosis, and clinical implications of erythrocyte enzyme deficiencies in dogs, cats, and horses

Harvey¹

2006

Veterinary Clinical Pathol

View full text Add to dashboard Cite

show abstract

“…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

View full text Add to dashboard Cite

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.

show abstract

“…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%

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

Juvet

Giger

Battersby³

et al. 2013

Ir Vet J

View full text Add to dashboard Cite

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.

show abstract

Inherited erythrocyte Syruvate kinase eficiency in the West Highland white terrier

Cited by 17 publications

References 17 publications

Pathogenesis, laboratory diagnosis, and clinical implications of erythrocyte enzyme deficiencies in dogs, cats, and horses

Pathogenesis, laboratory diagnosis, and clinical implications of erythrocyte enzyme deficiencies in dogs, cats, and horses

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

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

Contact Info

Product

Resources

About