Pyruvat dehydrogenase phosphatase 1deficiency

(Clumber Spaniel, Sussex Spaniel) more
Disease
autosomal recessive
Heredity
The pyruvate dehydrogenase phosphatase deficiency disease is characterised by exercise intolerance and post-exercise collapse. There may also be neurological symptoms. The Pyruvate dehydrogenase enzyme complex is important for production of energy in the cell.
Test duration
sequencing
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