Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase E1-alpha deficiency
Definition
Pyruvate 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 PDHAD, pyruvate dehydrogenase complex E1 component subunit alpha deficiency, pyruvate dehydrogenase E1-alpha deficiency, pyruvate dehydrogenase e1-alpha deficiency, X-linked dominant — per MONDO