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Pyruvate dehydrogenase E1-beta deficiency
rarePyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia.
- Identifiers
- MONDO:0013580 OMIM:614111Orphanet:255138
- Causal genes
- PDHB
- Also known as
- PDHBD · pyruvate dehydrogenase complex E1 component subunit beta deficiency
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