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.
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, 595 La Salle Street, Durham, NC 27710, USA. areeg.el-gharbawy@duke.edu
Areeg H
AH
El-Gharbawy
Anne
A
Boney
Sarah P
SP
Young
Priya S
PS
Kishnani
D002675:Child, Preschool; D055423:Diet, Ketogenic / Q000592:standards; D005500:Follow-Up Studies; D006801:Humans; D006885:Hydroxybutyrates / Q000097:blood; D019344:Lactic Acid / Q000097:blood; D008297:Male; D010349:Patient Compliance; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000178:diet therapy*; D016896:Treatment Outcome
D006885:Hydroxybutyrates; D019344:Lactic Acid