Phosphofructokinase Deficiency (Spaniel Type)

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Find out if your spaniel or Whippet could develop Phosphofructokinase deficiency (PFKD) caused by PFKM at CAGT.

Categories ,
Turnaround 1-2 weeks
Breed(s) , , , ,
OMIA OMIA000421-9615
Aliases ,

Results from this test will be reported as detailed in the Registry Reporting list.


Part of the official UK Kennel Club testing scheme in Spaniel (American Cocker) and Spaniel (English Springer)

Phosphofructokinase (PFK) is an enzyme that is involved in the use and regulation of glucose as an energy source. Disruption of the PFKM gene can result in a Phosphofructokinase deficiency that leads to muscles that fatigue very easily, because they cannot use energy very efficiently. Affected dogs display muscle weakness, an inability to exercise properly, or muscle cramping. Characteristic of the disease is a brown discolouration of urine, caused by the excretion of the muscle breakdown product myoglobin in the urine.

There is no cure for PFK deficiency and treatment is supportive and to minimise long-term damage.

Autosomal Recessive

This mutation is autosomal recessive.

Our advice is to breed with carrier animals for the first few generations after the development of a DNA test. This ensures that desirable traits in the breed can be captured.

Carriers can be safely bred to clear dogs. On average, 50% of such a litter will be clear and 50% carriers; there can be no affected dogs produced from such a mating.

Puppies which will be used for breeding should themselves be DNA tested to determine whether they are clear or carriers of this PFKD mutation.

Variant Single base substitution c.2228G>A p.Trp743STOP
Assay Type Variant Specific
Inheritance Autosomal Recessive
Severity Low-Moderate: Affected animals experience discomfort or dysfunction of some kind, but life expectancy is not affected.

Smith BF, Stedman H, Rajpurohit Y, et al. (1996) Molecular basis of canine muscle type phosphofructokinase deficiency. J Biol Chem. 271(33): 20070-20074. DOI: 10.1074/jbc.271.33.20070.

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