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Pyruvate dehydrogenase E1-alpha deficiency
MONDO:0010717Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.
Also known as: pyruvate decarboxylase deficiency, PDHAD, pyruvate dehydrogenase E1-alpha deficiency, pyruvate dehydrogenase complex E1 component subunit alpha deficiency, pyruvate dehydrogenase e1-alpha deficiency, X-linked dominant, PDH deficiency, ataxia with lactic acidosis 1, ataxia, intermittent, with abnormal pyruvate metabolism
21 clinical trials for this condition and its sub-types, 2 tagged with Pyruvate dehydrogenase E1-alpha deficiency itself.
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Could a Fatty-Acid drug help kids with rare energy disorder?
Disease control Recruiting nowThis early study is testing a drug called triheptanoin (Dojolvi) in children with pyruvate dehydrogenase complex (PDC) deficiency, a rare genetic condition that affects energy production. The trial will enroll 6 children aged 1 to 18 and look at safety, side effects, and changes …
Phase 1 • Sponsor: Jirair Krikor Bedoyan • Aim: Disease control
Last updated Jun 27, 2026 09:06 UTC
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Researchers launch major study to unravel rare metabolic disorder
Knowledge-focused Recruiting nowThis study is collecting information from children and adults with pyruvate dehydrogenase complex deficiency (PDCD), a rare genetic disorder that affects energy production in cells. Researchers will review medical records, ask participants about their health history, and perform …
Sponsor: University of Pittsburgh • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:05 UTC