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Pyruvate dehydrogenase E2 deficiency

rare

Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.

Identifiers
MONDO:0009502 OMIM:245348Orphanet:79244
Causal genes
DLAT
Part of
Pyruvate dehydrogenase deficiency
Also known as
dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency · dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency · PDHDD · pyruvate dehydrogenase complex component E2 deficiency

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