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.

journal_name

J Child Neurol

authors

Di Pisa V,Cecconi I,Gentile V,Di Pietro E,Marchiani V,Verrotti A,Franzoni E

doi

10.1177/0883073812436424

subject

Has Abstract

pub_date

2012-12-01 00:00:00

pages

1593-6

issue

12

eissn

0883-0738

issn

1708-8283

pii

0883073812436424

journal_volume

27

pub_type

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