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Pyruvate dehydrogenase "e1-beta" deficiency
- ... Pyruvate dehydrogenase E1-alpha deficiency Genetic Testing Registry: Pyruvate dehydrogenase E1-beta deficiency Genetic Testing Registry: Pyruvate dehydrogenase E2 deficiency Genetic ...
- ... PDHB gene are a very rare cause of pyruvate dehydrogenase deficiency. This ... acids) in the E1 beta protein, resulting in an abnormal E1 beta protein ...
- ... females.Mutations in the PDHA1 gene associated with pyruvate dehydrogenase ... not be able to interact with E1 beta to form the E1 enzyme or with other ...