1990
DOI: 10.1111/j.1748-5827.1990.tb00707.x
|View full text |Cite
|
Sign up to set email alerts
|

Inherited erythrocyte Syruvate kinase eficiency in the West Highland white terrier

Abstract: 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 pres… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
2
1

Citation Types

1
22
0

Year Published

1997
1997
2022
2022

Publication Types

Select...
5
2
1

Relationship

0
8

Authors

Journals

citations
Cited by 17 publications
(23 citation statements)
references
References 17 publications
1
22
0
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
“…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%
“…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%
“…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%
“…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%