Pyruvate dehydrogenase E3-binding protein deficiency
Pyruvate dehydrogenase E3-binding protein deficiency
Definition
Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction.
Also known as 2-oxoglutarate complex deficiency, branched chain alpha-ketoacid dehydrogenase complex deficiency, diaphorase deficiency, dihydrolipoyl dehydrogenase deficiency, Glycine cleavage system L protein deficiency, lacticacidemia due to PDX1 deficiency, lipoamide dehydrogenase deficiency, pyruvate dehydrogenase complex component E3 deficiency, pyruvate dehydrogenase E3-binding protein deficiency, pyruvate dehydrogenase protein X component deficiency — per MONDO