Hereditary phosphofructokinase deficiency in Wachtelhunds

Journal of the American Animal Hospital Association

Volumn 47, Issue 2, 2011, Pages 145-150

  Hillström, Anna ^a,b   Tvedten, Harold ^a,b   Rowe, André ^b   Giger, Urs ^c  

^a SWEDISH UNIVERSITY OF AGRICULTURAL SCIENCES   (Sweden)

^b Stromsholm Referral Animal Hospital   (Sweden)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

6 PHOSPHOFRUCTOKINASE;

ANIMAL; ANIMAL DISEASE; ARTICLE; BLOOD; CASE REPORT; DOG; DOG DISEASE; ENZYMOLOGY; ERYTHROCYTE; FEMALE; GENETIC PREDISPOSITION; GENETICS; HEREDITARY HEMOLYTIC ANEMIA;

ANEMIA, HEMOLYTIC, CONGENITAL; ANIMALS; DOG DISEASES; DOGS; ERYTHROCYTES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; PHOSPHOFRUCTOKINASES;

CANIS FAMILIARIS;

EID: 79952099420     PISSN: 15473317     EISSN: 15473317     Source Type: Journal    
DOI: 10.5326/JAAHA-MS-5619     Document Type: Article

References (20)

1. Giger U. Erythrocyte phosphofructokinase and pyruvate kinase deficiencies. In: Feldman BF, Zinkel JG, Jain NC, eds. Schalm's veterinary hematology. 5th ed. Baltimore (MD): Lippincott Williams & Wilkins; 2000:1020-5.
2. Harvey JW. Pathogenesis, laboratory diagnosis, and clinical implications of erythrocyte enzyme deficiencies in dogs, cats, and horses. Vet Clin Pathol 2006;35(2):144-56.
3. Giger U, Reilly MP, Asakura T, et al. Autosomal recessive inherited phosphofructokinase deficiency in English springer spaniel dogs. Anim Genet 1986;17(1):15-23.
4. Skibild E, Dahlgaard K, Rajpurohit Y, et al. Haemolytic anaemia and exercise intolerance due to phosphofructokinase deficiency in related springer spaniels. J Small Anim Pract 2001;42(6):298-300.
5. Giger U, Smith BF, Woods CB, et al. Inherited phosphofructokinase deficiency in an American cocker spaniel. J Am Vet Med Assoc 1992; 201(10):1569-71.
6. Gerber K, Harvey JW, D'Agorne S, et al. Hemolysis, myopathy, and cardiac disease associated with hereditary phosphofructokinase deficiency in two Whippets. Vet Clin Pathol 2009;38(1): 46-51.
7. Smith BF, Stedman H, Rajpurohit Y, et al. Molecular basis of canine muscle type phosphofructokinase deficiency. J Biol Chem 1996; 271(33):20070-4.
8. Ronquist G, Rudolphi O, Engström I, et al. Familial phosphofructokinase deficiency is associated with a disturbed calcium homeostasis in erythrocytes. J Intern Med 2001;249(1):85-95.
9. Giger U, Harvey JW. Hemolysis caused by phosphofructokinase deficiency in English springer spaniels: seven cases (1983-1986). J Am Vet Med Assoc 1987;191(4):453-9.
10. Beutler E. Red cell metabolism: a manual of biochemical methods. 3rd ed. Orlando (FL): Grune & Stratton; 1984:42-5, 146-8.
11. Giger U, Harvey JW, Yamaguchi RA, et al. Inherited phosphofructokinase deficiency in dogs with hyperventilation-induced hemolysis: increased in vitro and in vivo alkaline fragility of erythrocytes. Blood 1985;65(2):345-51.
12. Harvey JW, Sussman WA, Pate MG. Effect of 2,3-diphosphoglycerate concentration on the alkaline fragility of phosphofructokinase-deficient canine erythrocytes. Comp Biochem Physiol B 1988;89(1):105-9.
13. Vora S, Giger U, Turchen S, et al. Characterization of the enzymatic lesion in inherited phosphofructokinase deficiency in the dog: an animal analogue of human glycogen storage disease type VII. Proc Natl Acad Sci USA 1985;82(23):8109-13.
14. Giger U, Kelly AM, Teno PS. Biochemical studies of canine muscle phosphofructokinase deficiency. Enzyme 1988;40(1):25-9.
15. Snow DH, Billeter R, Mascarello F, et al. No classical type IIB fibres in dog skeletal muscle. Histochemistry 1982;75(1):53-65.
16. Giger U, Argov Z, Schnall M, et al. Metabolic myopathy in canine muscle-type phosphofructokinase deficiency. Muscle Nerve 1988; 11(12):1260-5.
17. Brechue WF, Gropp KE, Ameredes BT, et al. Metabolic and work capacity of skeletal muscle of PFK-deficient dogs studied in situ. J Appl Physiol 1994;77(5):2456-67.
18. Kirk RG, Andrews SB, Lee P. The correlation of composition and morphology during the high to low potassium transition in single erythropoietic cells. J Membr Biol 1983;76(3):281-7.
19. O'Neill SL, Feldman BF. Hemolysis as a factor in clinical chemistry and hematology of the dog. Vet Clin Pathol 1989;18(3): 58-68.
20. Toscano A, Musumeci O. Tarui disease and distal glycogenoses: clinical and genetic update. Acta Myol 2007;26(2):105-7.