Abstract.
Primary defects of the E3 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 E3 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 E1α subunit deficiency; however, they both had significant residual enzyme activity in cultured fibroblasts and prolonged survival.
Similar content being viewed by others
Author information
Authors and Affiliations
Additional information
Electronic Publication
Rights and permissions
About this article
Cite this article
Brown, R.M., Head, R.A. & Brown, G.K. Pyruvate dehydrogenase E3 binding protein deficiency. Hum Genet 110, 187–191 (2002). https://doi.org/10.1007/s00439-001-0665-3
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00439-001-0665-3