/pyruvate dehydrogenase E3-binding protein deficiency

pyruvate dehydrogenase E3-binding protein deficiency

Rare Disease

MONDO:0009503

Also Known As

2-oxoglutarate complex deficiencyGlycine cleavage system L protein deficiencybranched chain alpha-ketoacid dehydrogenase complex deficiencydiaphorase deficiencydihydrolipoyl dehydrogenase deficiencylacticacidemia due to PDX1 deficiencylipoamide dehydrogenase deficiencypyruvate dehydrogenase E3-binding protein deficiencypyruvate dehydrogenase complex component E3 deficiencypyruvate dehydrogenase protein X component deficiencyPDHXDlactic acidemia due to defect in lipoyl-containing component 10 of the pyruvate dehydrogenase Complexpyruvate 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.