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Results 1 - 3 of 3 for Pyruvate dehydrogenase "E1-beta" deficiency
  1. Pyruvate dehydrogenase deficiency 
    ... Pyruvate dehydrogenase E1-alpha deficiency Genetic Testing Registry: Pyruvate dehydrogenase E1-beta deficiency Genetic Testing Registry: Pyruvate dehydrogenase E2 deficiency Genetic ...
    https://medlineplus.gov/.../pyruvate-dehydrogenase-deficiency - Genetics
  2. PDHB gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/pdhb - Genetics
  3. PDHA1 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/pdha1 - Genetics