Pyruvate dehydrogenase E1-beta deficiency

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Pyruvate dehydrogenase E1-beta deficiency

Synonyms: PDHBD | Pyruvate dehydrogenase complex E1 component subunit beta deficiency

Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD see this term) characterized by severe lactic acidosis developmental delay and hypotonia.

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 October 2023.

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Pyruvate dehydrogenase E1-beta 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.