pyruvate dehydrogenase E3-binding protein deficiency
Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction.
MONDO:0019169
pyruvate dehydrogenase deficiency
is_a
2-oxoglutarate complex deficiency
exact
Glycine cleavage system L protein deficiency
exact
PDHXD
related
branched chain alpha-ketoacid dehydrogenase complex deficiency
exact
diaphorase deficiency
exact
dihydrolipoyl dehydrogenase deficiency
exact
lacticacidemia due to PDX1 deficiency
exact
lipoamide dehydrogenase deficiency
exact
pyruvate dehydrogenase E3-binding protein deficiency
exact
pyruvate dehydrogenase complex component E3 deficiency
exact
pyruvate dehydrogenase protein X component deficiency
exact
SPCC1259.09c