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Pyruvate dehydrogenase E3 deficiency

MONDO:0009529

Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.

Also known as: DLD deficiency, E3-deficient maple syrup urine disease, dihydrolipoamide dehydrogenase deficiency, pyruvate dehydrogenase E3 deficiency, DLDD, Dld deficiency, E3 deficiency, lipoamide dehydrogenase deficiency, lactic acidosis due to

21 clinical trials for this condition and its sub-types, 1 tagged with Pyruvate dehydrogenase E3 deficiency itself.

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