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.

Also known as: 2-oxoglutarate complex deficiency, Glycine cleavage system L protein deficiency, branched chain alpha-ketoacid dehydrogenase complex deficiency, diaphorase deficiency, dihydrolipoyl dehydrogenase deficiency, lacticacidemia due to PDX1 deficiency, lipoamide dehydrogenase deficiency, pyruvate dehydrogenase E3-binding protein deficiency

47 clinical trials for this condition and its sub-types.