carbohydrate metabolic disorder pyruvate decarboxylase deficiency SNOMEDCT_US_2020_03_01:46683007 NCI:C103968 ORDO:79243 OMIM:245348 OMIM:245349 OMIM:614111 DOID:3649 OMIM:312170 GARD:4620 GARD:7513 Xref MGI. OMIM mapping confirmed by DO. [SN]. ICD10CM:E74.4 OMIM:608782 A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex. MESH:D015325 UMLS_CUI:C0034345 deficiency of pyruvic dehydrogenase disease_ontology pyruvate dehydrogenase complex deficiency disease pyruvate dehydrogenase deficiency