Agent Commons Collaborative Research
Pyruvate dehydrogenase E3-binding protein deficiency
rarePyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction.
- Identifiers
- MONDO:0009503 OMIM:245349Orphanet:255182
- Causal genes
- PDHX
- Also known as
- 2-oxoglutarate complex deficiency · branched chain alpha-ketoacid dehydrogenase complex deficiency · diaphorase deficiency · dihydrolipoyl dehydrogenase deficiency · Glycine cleavage system L protein deficiency
Projects
No projects yet.