Hemolysis, myopathy, and cardiac disease associated with hereditary phosphofructokinase deficiency in two Whippets

Veterinary Clinical Pathology

Volumn 38, Issue 1, 2009, Pages 46-51

  Gerber, Karen ^a   Harvey, John W ^b   D'Agorne, Sara ^a   Wood, Jonathan ^c   Giger, Urs ^c  

^a ABBOTT LABORATORIES   (United Kingdom)

^b University of Florida   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

2,3 Diphosphoglycerate; Alkaline fragility; Cardiomyopathy; Hemolytic anemia; Hereditary; Phosphofructokinase deficiency

Indexed keywords

CANIS FAMILIARIS;

6 PHOSPHOFRUCTOKINASE;

ANIMAL; ANIMAL DISEASE; ARTICLE; CASE REPORT; DOG; DOG DISEASE; ENZYMOLOGY; ERYTHROCYTE; GENETIC PREDISPOSITION; GENETICS; HEART DISEASE; HEMOLYSIS; MALE; MUSCLE DISEASE; PATHOLOGY;

ANIMALS; DOG DISEASES; DOGS; ERYTHROCYTES; GENETIC PREDISPOSITION TO DISEASE; HEART DISEASES; HEMOLYSIS; MALE; MUSCULAR DISEASES; PHOSPHOFRUCTOKINASES;

EID: 67549147393     PISSN: 02756382     EISSN: 1939165X     Source Type: Journal    
DOI: 10.1111/j.1939-165X.2008.00089.x     Document Type: Article

References (35)

1. Harvey JW. The erythrocyte: physiology, metabolism, and biochemical disorders. In: Kaneko JJ, Harvey JW, Bruss ML, eds. Clinical Biochemistry of Domestic Animals. 6th ed. San Diego: Elsevier Inc.; 2008:173-240.
2. Vora S, Giger U, Turchen S, Harvey JW.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;82:8109-8113.
3. Smith BF, Stedman H, Rajpurohit Y, et al. The molecular basis of canine muscle-type phosphofructokinase deficiency. J Biol Chem. 1996;271:20070-20074.
4. Giger U, Kelly AM, Teno PS. Biochemical studies of canine muscle phosphofructokinase deficiency. Enzyme. 1988;40:25-29.
5. Harvey JW, Pate MG, Mhaskar Y, Dunaway GA. Characterization of phosphofructokinase-deficient canine erythrocytes. J Inherit Metab Dis. 1992;15:747-759.
6. Giger U, Smith BF, Woods CB, Patterson DF, Stedman H. Inherited phosphofructokinase deficiency in the American Cocker spaniel. J Am Vet Med Assoc. 1992;201:1569-1571.
7. Giger U, Reilly MP, Asakura T, Baldwin CJ, Harvey JW. Autosomal recessive inherited phosphofructokinase deficiency in English Springer spaniels. Anim Genet. 1986;17:15-23.
8. Giger U, Harvey JW. Hemolysis caused by phosphofructokinase deficient English Springer spaniels: seven cases (1983-86). J Am Vet Med Assoc. 1987;191:453-459.
9. 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;65:345-351.
10. 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; 89B:105-109.
11. Harvey JW, Calderwood Mays MB, Gropp KE, phosphofructokinase deficiency (type VII glycogen storage disease). Vet Pathol. 1990;27:1-8.
12. Harvey JW, Smith JE. Haematology and clinical chemistry of English Springer spaniel dogs with phosphofructokinase deficiency. Comp Haematol Intl. 1994;4:70-74.
13. Hilppo M. Some haematological and clinical-chemical parameters of sight hounds (Afghan hound, saluki and whippet). Nord Vet Med. 1986;38:148-155.
14. Jain NC. Schalm's Veterinary Hematology. 4th ed. Philadelphia: Lea & Febiger; 1986:69-71, 551-554.
15. Santoro SK, Garrett LD, Wilkerson M. Platelet concentrations and platelet-associated IgG in greyhounds. J Vet Intern Med. 2007;21:107-112.
16. Parker JC. Solute and water transport in dog and cat red blood cells. In: Ellory JC, Lew VL, eds. Membrane Transport in Red Cells. New York: Academic Press Inc.; 1977:427-465.
17. Dacie JV, Lewis SM, Gordon-Smith EC. Investigations of the hereditary haemolytic anaemias. In: Dacie JV, Lewis SM, ed. Practical Haematology. 6th ed. London: Churchill Livingstone; 1984:152-172.
18. Waddell WJ. Lysis of dog erythrocytes in mildly alkaline isotonic media. Am J Physiol. 1956; 186:339-342.
19. Iampietro PF, Burr MJ, Fiorica V, McKenzie JM, Higgins EA. PH-dependent lysis of canine erythrocytes. J Appl Physiol. 1967;23:505-510.
20. Searcy GP, Tasker JB, Miller DR. Animal model: pyruvate kinase deficiency in dogs. Am J Pathol. 1979;94:689-692.
21. Chapman BL, Giger U. Inherited erythrocyte pyruvate kinase deficiency in the West Highland white terrier. J Small Anim Pract. 1990;31:610-616.
22. Harvey JW, Reddy GR. Postnatal hematological development in phosphofructokinase-deficient dogs. Blood. 1989;74:2556-2561.
23. Snow DH, Billeter R, Mascarello F, et al. No classical type IIB fibers in dog skeletal muscle. Histochemistry.1982;75:53-65.
24. Mosher DS, Quignon P, Bustamante CD, et al. A mutation in the myostatin gene increases muscle mass and enhances racing performance in heterozygote dogs. PloS Genet. 2007;3:e79.
25. McPherron AC, Lee SJ. Double muscling in cattle due to mutations in the myostatin gene. Proc Natl Acad Sci USA. 1997;94:12457-12461.
26. Amit R, Bashan N, Abarbanel JM, et al. Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency. Muscle Nerve. 1992;15:455-458.
27. Finsterer J, Strollberger C, Kopsa W. Neurological and cardiac progression of glycogenosis type VII over an eight-year period. South Med J. 2002;95:1436-1440.
28. Asano K, Masuda K, Okumura M, Kadosawa T, Fujinaga T. Plasma atrial and brain natriuretic peptide levels in dogs with congestive heart failure. J Vet Med Sci. 1999;61:523-529.
29. Prosek R, Sisson DD, Oyama MA, Solter PF. Distinguishing cardiac and noncardiac dyspnea in 48 dogs using plasma atrial natriuretic factor, B-type natriuretic factor, endothelin, and cardiac troponin-I. J Vet Intern Med. 2007;21:238-242.
30. Oyama MA, Sisson DD, Solter PF. Prospective screening for occult cardiomyopathy in dogs by measurement of plasma atrial natriuretic peptide and B-type natriuretic peptide and cardiac troponin-I concentrations. Am J Vet Res. 2007;68:42-47.
31. DeFrancesco TC, Rush JE, Rozanski EA, et al.Prospective clinical evaluation of an ELISA B-type natriuretic peptide assay in the diagnosis of congestive heart failure in dogs presenting with a cough or dyspnea. J Vet Intern Med. 2007;21:243-250.
32. Fine DM, DeClue AE, Reinero CR. Evaluation of circulating amino terminal-pro-B-type natriuretic peptide concentration in dogs with respiratory distress attributable to congestive heart failure or primary pulmonary disease. J Am Vet Med Assoc. 2008;20:1674-1679.
33. Hall C. NT-ProBNP: the mechanism behind the marker. J Cardiac Fail. 2005;11:S81-S83.
34. Hall C. Essential biochemistry and physiology of (NT- pro) BNP. Eur J Heart Fail. 2004;17:257-260.
35. McCully K, Giger U. Using near-infrared spectroscopy coupled to magnetic resonance spectroscopy to evaluate canine muscle oxygen saturation: evaluation and treatment of M-type phosphofructokinase deficiency. In: Tavitian B, Leroy-Willig A, Ntziachristos V, eds. International Textbook of In Vivo Imaging in Vertebrates. London: John Wiley & Sons, Ltd.; 2007:265-269.