Pyruvate dehydrogenase E3-binding protein deficiency

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Pyruvate dehydrogenase E3-binding protein deficiency

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

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Pyruvate dehydrogenase E3-binding protein deficiency?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.