Phosphofructokinase (PFK) Deficiency

Related Terms: Glycogen Storage Disease VII, Glycogenosis Type VII, GSD VII, PFKM, Tarui-Layzer Syndrome

Type: DNA

Sample Types: Cheek brushes/swabs or Fresh EDTA blood

3–5 years of age

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Sample Processing

Cost: $75.00

Species and Breeds
Canine - American Cocker Spaniel
Canine - English Cocker Spaniel
Canine - English Springer Spaniel
Canine - Mixed Breed
Canine - Whippet
Canine - Wachtelhund

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Clinical signs include exercise intolerance, intermittent lethargy, inappetence, and pigmenturia (discoloration of the urine) lasting several days after strenuous exercise.

May live a normal lifespan

Autosomal recessive

Glycogen deposits in muscle tissue.

PFKM and NM_001003199.1:c.2228G>A (American Cocker Spaniel, English Cocker Spaniel, English Springer Spaniel, Mixed Breed, Whippet) PFKM and NM_001003199.1:c.550C>T (Wachtelhund)

Explanation of Results
Genotype Phenotype Interpretation
2-2 (Homozygous Disease Variant) Unhealthy (Affected) Homozygous Affecteds (2-2) are expected to develop signs consistent with Phosphofructokinase (PFK) Deficiency and all of their offspring will inherit a disease variant allele. Parents, offspring and relatives should also be tested. You may choose to contact us for a consultation on the management of this disease. 1 = Normal allele; 2 = Variant allele.
1-2 (Heterozygous) Healthy (Carrier) Heterozygous Carriers (1-2) are not expected to develop signs of Phosphofructokinase (PFK) Deficiency but each of their offspring has a chance of inheriting a disease variant allele. Parents, offspring and relatives should also be tested. 1 = Normal allele; 2 = Variant allele.
1-1 (Homozygous Normal) Healthy (Normal, Clear) Homozygous Normals (1-1) are not expected to develop signs of Phosphofructokinase (PFK) Deficiency and none of their offspring will inherit the disease variant allele. 1 = Normal allele; 2 = Variant allele.

Inal Gultekin G, Raj K, Lehman S, Hillström A, Giger U. Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog. Mol Cell Probes. 2012 Dec;26(6):243-7. doi: 10.1016/j.mcp.2012.02.004. Epub 2012 Mar 16. PMID: 22446493; PMCID: PMC3485442. Hillström A, Tvedten H, Rowe A, Giger U. Hereditary phosphofructokinase deficiency in wachtelhunds. J Am Anim Hosp Assoc. 2011 Mar-Apr;47(2):145-50. doi: 10.5326/JAAHA-MS-5619. Epub 2011 Feb 10. PMID: 21311071; PMCID: PMC3132506. Gerber K, Harvey JW, D'Agorne S, Wood J, Giger U. Hemolysis, myopathy, and cardiac disease associated with hereditary phosphofructokinase deficiency in two Whippets. Vet Clin Pathol. 2009 Mar;38(1):46-51. doi: 10.1111/j.1939-165X.2008.00089.x. Epub 2008 Oct 28. PMID: 19228357; PMCID: PMC2692053. Skibild E, Dahlgaard K, Rajpurohit Y, Smith BF, Giger U. Haemolytic anaemia and exercise intolerance due to phosphofructokinase deficiency in related springer spaniels. J Small Anim Pract. 2001 Jun;42(6):298-300. doi: 10.1111/j.1748-5827.2001.tb02043.x. PMID: 11440399. Smith BF, Stedman H, Rajpurohit Y, Henthorn PS, Wolfe JH, Patterson DF, Giger U. Molecular basis of canine muscle type phosphofructokinase deficiency. J Biol Chem. 1996 Aug 16;271(33):20070-4. doi: 10.1074/jbc.271.33.20070. PMID: 8702726. Giger U, Smith BF, Woods CB, Patterson DF, Stedman H. Inherited phosphofructokinase deficiency in an American cocker spaniel. J Am Vet Med Assoc. 1992 Nov 15;201(10):1569-71. PMID: 1289336. Giger U, Harvey JW. Hemolysis caused by phosphofructokinase deficiency in English springer spaniels: seven cases (1983-1986). J Am Vet Med Assoc. 1987 Aug 15;191(4):453-9. PMID: 2958437. Giger U, Reilly MP, Asakura T, Baldwin CJ, Harvey JW. Autosomal recessive inherited phosphofructokinase deficiency in English springer spaniel dogs. Anim Genet. 1986;17(1):15-23. doi: 10.1111/j.1365-2052.1986.tb03184.x. PMID: 2940948. Giger U, Harvey JW, Yamaguchi RA, McNulty PK, Chiapella A, Beutler E. Inherited phosphofructokinase deficiency in dogs with hyperventilation-induced hemolysis: increased in vitro and in vivo alkaline fragility of erythrocytes. Blood. 1985 Feb;65(2):345-51. PMID: 3155631.