Pyruvate dehydrogenase phosphatase 1 deficiency (PDP1)
Pyruvate dehydrogenase phosphatase 1 deficiency (PDP1)
General description
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.
Breeds
Clumber Spaniel, Sussex Spaniel
Order details
| Test number | 8104 |
| Abbreviation | PDP1 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | PDP1 |
| Mutation | C-T |
| Literature | OMIA:001406-9615 |
Detailed description
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.
