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Genetic and Rare Diseases Information Center (GARD)

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Pyruvate dehydrogenase deficiency

Other Names for this Disease
  • PDHC
  • Pyruvate dehydrogenase complex deficiency
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  • My 10 month old son was diagnosed with pyruvate dehydrogenase deficiency at 2.5 months of age. I have been told that he will likely not survive beyond 1 year of age. Could you please provide some general, understandable information about this condition? Click here for answer