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pyruvate dehydrogenase E3 deficiency

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.
Uniprot Description An autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC). Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism.
Mondo Term and Equivalent IDs
MONDO:0009529:  pyruvate dehydrogenase E3 deficiency
GARD:0003263: 
Orphanet:2394: 
SCTID:29914000: 
UMLS:C0268193: 
UMLS:CN043137: