Article
Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.
Annals of neurology - 1 Aug 2005
Head Rosemary A, Brown Ruth M, Zolkipli Zarazuela, Shahdadpuri Raveen, King Mary D, Clayton Peter T, Brown Garry K
Abstract excerpt
Pyruvate dehydrogenase deficiency is a major cause of primary lactic acidosis and neurological dysfunction in infancy and early childhood. Most cases are caused by mutations in the X-linked gene for the E1alpha subunit of the complex. Mutations in DLAT, the gene encoding dihydrolipoamide acetyltransferase, the E2 core component of the complex, have not been described previously. We report two unrelated patients...
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