Article
Pyruvate dehydrogenase phosphatase deficiency: orphan disease or an under-diagnosed condition?
Molecular and cellular endocrinology - 25 Apr 2006
Maj M C, Cameron J M, Robinson B H
Abstract excerpt
Pyruvate dehydrogenase phosphatase (PDP) is an enzyme which regulates the activity of the pyruvate dehydrogenase complex (PDHc). In the past, PDHc deficiency has been attributed to mutations in the complex itself and the regulatory enzymes have not been considered. We have recently reported the first mutation in PDP1, one of the two isoforms of PDP, which results in severe exercise intolerance and mild...
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