Pyruvate dehydrogenase E1-beta deficiency

Definition

Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia.

Also known as PDHBD, pyruvate dehydrogenase complex E1 component subunit beta deficiency, pyruvate dehydrogenase E1-beta deficiency — per MONDO

Also identified as

• MESH C566729 per MONDO
• OMIM 614111 per MONDO
• Orphanet 255138 per MONDO
• UMLS C3279841 per MONDO