Pyruvate dehydrogenase E3 binding protein deficiency.

[pyruvate dehydrogenase deficiency]

Primary defects of the E 3 binding protein component of the pyruvate dehydrogenase complex appear to be a rare cause of pyruvate dehydrogenase deficiency . We describe two new , unrelated patients with mutations in the E 3 binding protein gene , in both cases involving the conserved dinucleotides of splice junctions . Both patients presented with delayed development and lactic acidosis , features that are also found in patients with the more common pyruvate dehydrogenase E 1 alpha subunit deficiency ; however , they both had significant residual enzyme activity in cultured fibroblasts and prolonged survival .

Diseases
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Diseases presenting "mutations in the e3 binding protein gene" symptom

pyruvate dehydrogenase deficiency

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