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

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.

• Authors: Areeg H El-Gharbawy, Anne Boney, Sarah P Young, Priya S Kishnani
• Journal: Molecular genetics and metabolism (Mol Genet Metab) Vol. 102 Issue 2 Pg. 214-5 (Feb 2011) ISSN: 1096-7206 [Electronic] United States
• PMID: 21130013 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2010 Elsevier Inc. All rights reserved.

Chemical References

• Hydroxybutyrates
• Lactic Acid

Topics

• Child, Preschool
• Diet, Ketogenic (standards)
• Follow-Up Studies
• Humans
• Hydroxybutyrates (blood)
• Lactic Acid (blood)
• Male
• Patient Compliance
• Pyruvate Dehydrogenase Complex Deficiency Disease (diet therapy)
• Treatment Outcome