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

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

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Child Neuropsychiatric Unit, Polyclinic S. Orsola-Malpighi, University of Bologna, Bologna, Italy.


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.

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