Pyruvate Dehydrogenase E2 Deficiency (PDHDD)

Pyruvate Dehydrogenase E2 Deficiency, also known as lactic acidemia due to defect of e2 lipoyl transacetylase of the pyruvate dehydrogenase complex, is related to neurodegeneration with brain iron accumulation 1 and pyruvate dehydrogenase e1-alpha deficiency, and has symptoms including ataxia and dystonia, paroxysmal. An important gene associated with Pyruvate Dehydrogenase E2 Deficiency is DLAT (Dihydrolipoamide S-Acetyltransferase). The drug Pyruvate has been mentioned in the context of this disorder. Affiliated tissues include globus pallidus and eye, and related phenotypes are difficulty walking and low levels of vitamin b1