disease has basis in dysfunction of disease has basis in disruption of disease caused by disruption of pyruvate decarboxylase activity pyruvate dehydrogenase complex inborn mitochondrial metabolism disorder pyruvate metabolism disorder inborn errors of metabolism pyruvate dehydrogenase deficiency NORD:1641 pyruvate decarboxylase deficiency DOID:3649 MEDGEN:19610 NANDO:2200518 ICD9:277.89 SCTID:46683007 PDHC Pyruvate Dehydrogenase Complex Deficiency MONDO:0019169 OMIMPS:312170 PDH pyruvate dehydrogenase complex deficiency A rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency. UMLS:C0034345 icd11.foundation:1124597954 GARD:0007513 Orphanet:765 NCIT:C103968 pyruvate dehydrogenase deficiency inborn carbohydrate metabolic disorder hereditary peripheral neuropathy metabolic epilepsy