Pyruvate dehydrogenase E2 deficiency

Get in touch with RARE Concierge.

Contact RARE Concierge

Pyruvate dehydrogenase E2 deficiency

Synonyms: Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency | Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency | Pyruvate dehydrogenase complex component E2 deficiency

A very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction mainly appearing during childhood.

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://www.orphadata.org. Data version March 2024

Newly diagnosed with
Pyruvate dehydrogenase E2 deficiency?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

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.