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Case Reports
. 2011 Feb;102(2):214-5.
doi: 10.1016/j.ymgme.2010.11.001. Epub 2010 Nov 9.

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

Areeg H El-Gharbawy  1 , Anne Boney, Sarah P Young, Priya S Kishnani
Affiliations
Case Reports

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

Areeg H El-Gharbawy et al. Mol Genet Metab. 2011 Feb.

Abstract

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.

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