Case report of pyruvate dehydrogenase deficiency with unusual increase of fats during ketogenic diet treatment

J Child Neurol. 2012 Dec;27(12):1593-6. doi: 10.1177/0883073812436424. Epub 2012 Feb 28.

Abstract

This article describes a case of pyruvate dehydrogenase deficiency in a 3-year-old boy who presented generalized hypotonia, severe psychomotor development delay, and generalized and partial seizures and was refractory to antiepileptic drugs. After the diagnosis, the patient was put on a ketogenic diet. Six months later, seizure frequency was reduced and psychomotor development had improved. At the same time he presented some side effects, such as 2 episodes of significant increases in cholesterol and triglycerides associated with viral respiratory infections. The latter decreased with a supplementation of ω-3 fatty acids and an increase in caloric intake.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Cholesterol / metabolism*
  • Diet, Ketogenic / methods*
  • Follow-Up Studies
  • Humans
  • Male
  • Pyruvate Dehydrogenase Complex Deficiency Disease / diet therapy*
  • Triglycerides / metabolism*

Substances

  • Triglycerides
  • Cholesterol