Scholars@Duke publication: Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet.

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

Publication , Journal Article

El-Gharbawy, AH; Boney, A; Young, SP; Kishnani, PS

Published in: Mol Genet Metab

February 2011

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.

Duke Scholars

Author Areeg Hassan El-Gharbawy Pediatrics, Medical Genetics

Author Sarah Phyllis Young Pediatrics, Medical Genetics

Author Priya Sunil Kishnani Pediatrics, Medical Genetics

Published In

Mol Genet Metab

DOI

10.1016/j.ymgme.2010.11.001

EISSN

1096-7206

Publication Date

February 2011

Volume

102

Issue

Start / End Page

214 / 215

Location

United States

Related Subject Headings

Treatment Outcome
Pyruvate Dehydrogenase Complex Deficiency Disease
Patient Compliance
Male
Lactic Acid
Hydroxybutyrates
Humans
Genetics & Heredity
Follow-Up Studies
Diet, Ketogenic

Citation

APA

Chicago

ICMJE

MLA

NLM

El-Gharbawy, A. H., Boney, A., Young, S. P., & Kishnani, P. S. (2011). Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet. Mol Genet Metab, 102(2), 214–215. https://doi.org/10.1016/j.ymgme.2010.11.001

El-Gharbawy, Areeg H., Anne Boney, Sarah P. Young, and Priya S. Kishnani. “Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet.” Mol Genet Metab 102, no. 2 (February 2011): 214–15. https://doi.org/10.1016/j.ymgme.2010.11.001.

El-Gharbawy AH, Boney A, Young SP, Kishnani PS. Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet. Mol Genet Metab. 2011 Feb;102(2):214–5.

El-Gharbawy, Areeg H., et al. “Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet.” Mol Genet Metab, vol. 102, no. 2, Feb. 2011, pp. 214–15. Pubmed, doi:10.1016/j.ymgme.2010.11.001.

El-Gharbawy AH, Boney A, Young SP, Kishnani PS. Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet. Mol Genet Metab. 2011 Feb;102(2):214–215.