" /> Pyruvate Dehydrogenase Deficiency - CISMeF





Preferred Label : Pyruvate Dehydrogenase Deficiency;

NCIt synonyms : PDH;

CISMeF acronym : PDH;

NCIt definition : 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.;

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31/07/2025


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