Pyruvate dehydrogenase complex deficiency

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.

Disease Alternative Name

pyruvate dehydrogenase deficiency
pdh
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Ekta Institute of Child Health

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Pgimer

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