Pyruvate dehydrogenase E1-alpha deficiency

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: 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

49 clinical trials for this condition and its sub-types.