
Loading...
$ 50.00
1
Associated Breed(s):
Click here to view Associated Breeds
Labels:
Category:
Metabolic - Associated with the enzymes and metabolic processes of cells
Severity:
Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.
Gene:
Pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDP1) on Chromosome 29
Variant Detected:
Base Substitution c.754 C>T p.Gln252STOP
Mode of Inheritance:
Autosomal Recessive
OMIA Reference:
Click to View Full OMIA Reference