Pyruvat dehydrogenase phosphatase 1deficiency
The pyruvate dehydrogenase phosphatase deficiency disease is characterised by exercise... mehr
Erkrankung
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.
Erbgang
autosomal recessive
Testdauer
1-2 weeks after arrival of the sample in the lab
