Pyruvate dehydrogenase E1-alpha deficiency

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Pyruvate dehydrogenase E1-alpha deficiency

Synonyms: PDHAD | Pyruvate decarboxylase deficiency | Pyruvate dehydrogenase complex E1 component subunit alpha deficiency

A disorder that is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis impaired psychomotor development hypotonia 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 Data version December 2023

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Pyruvate dehydrogenase E1-alpha 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.