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Pyruvate dehydrogenase E3-binding protein deficiency

^ http://www.orpha.net/ORDO/Orphanet_255182


Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.

Synonyms: Lipoamide dehydrogenase deficiency, Diaphorase deficiency, Glycine cleavage system L protein deficiency, Branched chain alpha-ketoacid dehydrogenase complex deficiency, Pyruvate dehydrogenase complex component E3 deficiency, Dihydrolipoyl dehydrogenase deficiency, Pyruvate dehydrogenase protein X component deficiency, 2-oxoglutarate complex deficiency

Term info

database cross reference
  • ICD-10:E74.4 (Attributed)
  • UMLS:C1855553 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:E74.4 (NTBT (narrower term maps to a broader term))
  • OMIM:245349 (E (exact mapping (the terms and the concepts are equivalent)))
hasDbXref

ICD-10:E74.4, OMIM:245349, UMLS:C1855553

notation

ORPHA:255182