The detail information of Pyruvate kinase deficiency of erythrocyte
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Year key mutation first reported: 1994

Species-specific name: -

Species-specific symbol: -

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB20 Basenji(African Barkless Dog) 43.2 cm (male), 40.6 cm (female) 10.9 kg (male), 10 kg (female) Democratic Republic of the Congo
CB24 English Beagle 33 cm & under 33-38.1 cm under 9.1 kg (5.9 inches & under), 9.1-13.6 kg (5.9-6.8 inches) United Kingdom (England)
CB60 Cairn Terrier 25.4 cm (male), 24.1 cm (female) 6.4 kg (male), 5.9 kg (female) United Kingdom (Scotland)
CB255 West Highland White Terrier 27.9 cm (male). 25.4 cm, female 6.8-9.1 kg United Kingdom (Scotland)
Associated Gene
Symbol Description Species Position Other Links
PKLR pyruvate kinase, liver and RBC Canis lupus familiaris Chr- : - - - Homologene, Ensembl, NCBI gene
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2012 Gultekin,G.I.,Raj,K.,Foureman,P.,Lehman,S.,Manhart,K.,Abdulmalik,O.,Giger,U.: :
Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and seconday hemochromatosis in dogs. J Vet Intern Med 26:935-44, 2012.
Pubmed reference: 22805166 . DOI: 10.1111/j.1939-1676.2012.00958.x .
2012 Trobridge,G.D.,Beard,B.C.,Wu,R.A.,Ironside,C.,Malik,P.,Kiem,H.P.: :
Stem cell selection in vivo using foamy vectors cures canine pyruvate kinase deficiency. PLoS One 7:e45173, 2012.
Pubmed reference: 23028826 . DOI: 10.1371/journal.pone.0045173 .
2006 Harvey,J.W.: :
Pathogenesis, laboratory diagnosis, and clinical implications of erythrocyte enzyme deficiencies in dogs, cats, and horses. Vet Clin Pathol 35:144-56, 2006.
Pubmed reference: 16783707 .
2003 Takatu,A.,Nash,R.A.,Zaucha,J.M.,Little,M.T.,Georges,G.E.,Sale,G.E.,Zellmer,E.,Kuhr,C.S.,Lothrop,C.D.,Storb,R.: :
Adoptive immunotherapy to increase the level of donor hematopoietic chimerism after nonmyeloablative marrow transplantation for severe canine hereditary hemolytic anemia. Biol Blood Marrow Transplant 9:674-82, 2003.
Pubmed reference: 14652850 . DOI: 10.1016/j.bbmt.2003.08.005 .
1999 Kohn,B.,Freistedt,R.,Pekrun,A.,Wang,P.,Giger,U.: :
Erythrocyte pyruvate kinase deficiency causing chronic hemolytic anemia and osteosclerosis in a longhaired dachshund [German] Kleintierpraxis 44:437-+, 1999.
1999 Skelly,B.J.,Wallace,M.,Rajpurohit,Y.R.,Wang,P.,Giger,U.: :
Identification of a 6 base pair insertion in West Highland White Terriers with erythrocyte pyruvate kinase deficiency American Journal of Veterinary Research 60:1169-1172, 1999.
Pubmed reference: 10490091 .
1995 Whitney,K.M.,Lothrop,C.D.: :
Genetic test for pyruvate kinase deficiency of basenjis Journal of the American Veterinary Medical Association 207:918-921, 1995.
Pubmed reference: 7559024 .
1994 Whitney,K.M.,Goodman,S.A.,Bailey,E.M.,Lothrop,C.D.: :
The molecular basis of canine pyruvate kinase deficiency Experimental Hematology 22:866-874, 1994.
Pubmed reference: 7520391 .
1992 Pekow,C.A.,Hinds,T.R.,Maggioprice,L.,Hammond,W.P.,Vincenzi,F.F.: :
Osmotic Stress in Red Blood Cells from Beagles with Hemolytic Anemia American Journal of Veterinary Research 53:1457-1461, 1992.
Pubmed reference: 1510326 .
1992 Schaer,M.,Harvey,J.W.,Calderwoodmays,M.,Giger,U.: :
Pyruvate Kinase Deficiency Causing Hemolytic Anemia with Secondary Hemochromatosis in a Cairn Terrier Journal of the American Animal Hospital Association 28:233-239, 1992.
1991 Giger,U.,Noble,N.A.: :
Determination of Erythrocyte Pyruvate Kinase Deficiency in Basenjis with Chronic Hemolytic Anemia Journal of the American Veterinary Medical Association 198:1755-1761, 1991.
Pubmed reference: 2071475 .
1990 Chapman,B.L.,Giger,U.: :
Inherited Erythrocyte Pyruvate Kinase Deficiency in the West Highland White Terrier Journal of Small Animal Practice 31:610-616, 1990.
1975 Prasse,K.W.,Crouser,D.,Beutler,E.,Walker,M.,Schall,W.D.: :
Pyruvate kinase deficiency anemia with terminal myelofibrosis and osteosclerosis in a Beagle Journal of the American Veterinary Medical Association 166:1170-1175, 1975.
Pubmed reference: 1141034 .
1971 Searcy,G.P.,Miller,D.R.,Tasker,J.B.: :
Congenital hemolytic anemia in the Basenji dog due to erythrocyte pyruvate kinase deficiency. Can J Comp Med 35:67-70, 1971.
Pubmed reference: 4251418 .
1969 Tasker,J.B.,Severin,G.A.,Young,S.,Gillette,E.L.: :
Familial anemia in the Basenji dog Journal of the American Veterinary Medical Association 154:158-165, 1969.
Pubmed reference: 5812576 .