pyruvate dehydrogenase E2 deficiency
Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.
MONDO:0019169
pyruvate dehydrogenase deficiency
is_a
PDHDD
related
dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency
exact
dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency
exact
pyruvate dehydrogenase E2 deficiency
exact
pyruvate dehydrogenase complex component E2 deficiency
exact
SPCC794.07