Phosphofructokinase Deficiency (German Spaniel)

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

PFKM

Variant Detected:

c.550C>T

Severity:

It is a trait and so is tested based on preference, not usually for health concerns.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the PFKM gene will reliably determine if a dog is a genetic carrier of Phosphofructokinase Deficiency.

Research Citation(s):

http://www.ncbi.nlm.nih.gov/pubmed/22446493

Associated Breed(s):

German Spaniel, Mixed Breed,