title: Case report of pyruvate dehydrogenase deficiency with unusual increase of fats during ketogenic diet treatment.
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.
authors.affiliation: Child Neuropsychiatric Unit, Polyclinic S. Orsola-Malpighi, University of Bologna, Bologna, Italy.
authors.forename: Veronica
authors.initials: V
authors.lastname: Di Pisa
authors.forename: Ilaria
authors.initials: I
authors.lastname: Cecconi
authors.forename: Valentina
authors.initials: V
authors.lastname: Gentile
authors.forename: Elena
authors.initials: E
authors.lastname: Di Pietro
authors.forename: Valentina
authors.initials: V
authors.lastname: Marchiani
authors.forename: Alberto
authors.initials: A
authors.lastname: Verrotti
authors.forename: Emilio
authors.initials: E
authors.lastname: Franzoni
mesh_terms: D002675:Child, Preschool; D002784:Cholesterol / Q000378:metabolism*; D055423:Diet, Ketogenic / Q000379:methods*; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000178:diet therapy*; D014280:Triglycerides / Q000378:metabolism*
chemical_list: D014280:Triglycerides; D002784:Cholesterol