GTR Home > Conditions/Phenotypes > Pyruvate dehydrogenase complex deficiency

Summary

A genetic disorder caused by mutations in the genes that are responsible for production of protein components of the pyruvate dehydrogenase complex. It may present with lactic acidosis. Signs and symptoms include developmental delays, seizures and hypotonia. [from NCI]

Available tests

36 tests are in the database for this condition.

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Clinical features

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