/pyruvate dehydrogenase E1-alpha deficiency

pyruvate dehydrogenase E1-alpha deficiency

Rare Disease

MONDO:0010717

Also Known As

pyruvate decarboxylase deficiencyPDHADpyruvate dehydrogenase E1-alpha deficiencypyruvate dehydrogenase complex E1 component subunit alpha deficiencypyruvate dehydrogenase e1-alpha deficiency, X-linked dominantPDH deficiencyataxia with lactic acidosis 1ataxia, intermittent, with abnormal pyruvate metabolismataxia, intermittent, with pyruvate dehydrogenase deficiencyataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiencylactic acidemia, thiamine-responsivepyruvate dehydrogenase Complex deficiencypyruvate 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.