Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet

A male child with X-linked pyruvate dehydrogenase deficiency presented with severe neonatal lactic acidosis. Poor compliance following initiation of the ketogenic diet justified modification to a less restrictive form which improved compliance. One year after starting the modified diet, he remained clinically stable, showing developmental progress. (C) 2010 Elsevier Inc. All rights reserved.