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Pyruvate dehydrogenase E1-beta deficiency

MONDO:0013580

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 E1-beta deficiency, pyruvate dehydrogenase complex E1 component subunit beta deficiency, pyruvate dehydrogenase E1-BETA deficiency

19 clinical trials for this condition and its sub-types, 0 tagged with Pyruvate dehydrogenase E1-beta deficiency itself.

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↑ Pyruvate dehydrogenase deficiency (4)
Including sub-types (19) Tagged with Pyruvate dehydrogenase E1-beta deficiency (0)

We haven't found any trials for this condition yet. Follow it to get notified when new trials appear.