label: pyruvate dehydrogenase E1-alpha deficiency
label_lc: pyruvate dehydrogenase e1-alpha deficiency
description: 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.