Pyruvate dehydrogenase phosphatase 1 deficiency (PDP1)

LABOKLIN Service ID: 8104

The pyruvate dehydrogenase phosphatase deficiency affects a gene of the Pyruvate dehydrogenase complex, a critical enzyme complex which is important for production of energy in the cell. The enzyme pyruvate dehydrogenase phosphatase is necessary for reactivating the enzyme complex. The disease is characterised by exercise intolerance and post-exercise collapse. There may also be neurological symptoms.

Method	sequencing
Breed list	Clumber Spaniel, Sussex Spaniel
Heredity	autosomal recessive
Duration	1 - 2 weeks after arrival of the sample in the lab