Monarch Disease Ontology identifier MONDO_0010717 (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, X-linked dominant.