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
Validation

Diseases presenting "prolonged survival" symptom

alexander disease

cholangiocarcinoma

harlequin ichthyosis

hodgkin lymphoma, classical

krabbe disease

megacystis-microcolon-intestinal hypoperistalsis syndrome

neonatal adrenoleukodystrophy

primary effusion lymphoma

pyruvate dehydrogenase deficiency

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