Only available in bundles

€57,48 €47,50 excl. VAT
Only available in bundles
Pyruvate Dehydrogenase Deficiency (PDP1) is a heriditary exercise intolerance syndrome and is well known to be associated with inborn errors of metabolism affecting glycolysis and fatty acid oxidation.
10 working days
Only available in bundles
Specifications
Breeds | |
---|---|
Gene | |
Organ | |
specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
Mode of Inheritance | |
Chromosome | |
Year Published |
General information
Pyruvate Dehydrogenase Deficiency (PDP1) is a heriditary exercise intolerance syndrome and is well known to be associated with inborn errors of metabolism affecting glycolysis and fatty acid oxidation.
Clinical features
Signs are exercise intolerance, lactic acidosis and post-exercise collapse.
Additional information
References
Pubmed ID: 17095275
Omia ID: 1406
Year published: