has material basis in germline mutation in PDHX pyruvate dehydrogenase E3-binding protein deficiency https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/pyruvate_dehydrogenase_e3_binding_protein_deficiency GARD:0017237 2-oxoglutarate complex deficiency branched chain alpha-ketoacid dehydrogenase complex deficiency OMIM:245349 pyruvate dehydrogenase protein X component deficiency PDHXD lactic acidemia due to defect in lipoyl-containing component 10 of the pyruvate dehydrogenase Complex MONDO:0009503 pyruvate dehydrogenase E3-binding PROTEIN deficiency lacticacidemia due to PDX1 deficiency Orphanet:255182 pyruvate dehydrogenase complex component E3 deficiency pyruvate dehydrogenase E3-binding protein deficiency MEDGEN:343383 dihydrolipoyl dehydrogenase deficiency UMLS:C1855553 diaphorase deficiency Glycine cleavage system L protein deficiency MESH:C565447 Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction. lipoamide dehydrogenase deficiency pyruvate dehydrogenase deficiency