pyruvate dehydrogenase E1-alpha deficiency

Findings

No curated finding names pyruvate dehydrogenase E1-alpha deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

X-linked dominant inheritance

Onset and course

Infantile onset · Neonatal onset

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• pyruvate dehydrogenase deficiency

Resolves to: pyruvate dehydrogenase E1-alpha deficiency

Also called

PDHADpyruvate dehydrogenase complex E1 component subunit alpha deficiencypyruvate dehydrogenase e1-alpha deficiency, X-linked dominant