Phosphofructokinase Deficiency (PFK)
Glycogen Storage Disease VII, PFK Deficiency, Glycogen Storage Disease VII, Glycogenosis Type VII, GSD VII, PFKM, Tarui-Layzer Syndrome
Phosphofructokinase Deficiency (PFK) is a genetic disease that prevents the metabolism of glucose into available energy resulting in exercise intolerance and muscle disease in Cocker Spaniels. PFK deficiency also destroys red blood cells in affected dogs, leading to anemia. The PFK deficiency gene frequency in Cockers is estimated to be 2-10% of the population.
Reading Your Results
A. (CLEAR/NORMAL):
These dogs have two copies of the normal gene and will neither develop Phosphofructokinase Deficiency nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Phosphofructokinase Deficiency but will, if bred, pass the mutation to 50% of its offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation associated with Phosphofructokinase Deficiency and are susceptible to develop exercise intolerance and muscle disease.
Additional Details
Inheritances
Autosomal Recessive
Affected gene
PKFM
OFA Accepted
Yes
Chromosome
Ch. 27
Mutation
Chr27:6620819 (CanFam3): G>A
Publication:
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. [PubMed: 8702726]