title: Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet.
abstract: A one-year-old boy suffering from intermittent lactic acidosis, muscular hypotonia, horizontal gaze paralysis and spasticity in both legs had low activity of the pyruvate dehydrogenase complex associated with low amounts of immunoreactive E 1 alpha and E 1 beta. Leigh syndrome was diagnosed on the basis of the clinical and biochemical abnormalities and the typical lesions observed on MRI of the brain. Treatment with a ketogenic diet was associated with clinical and biochemical amelioration. A striking improvement of the cerebral lesions was observed by neuro-imaging.
authors.affiliation: Department of Pediatrics, University Hospital Amsterdam (AMC), The Netherlands.
authors.forename: F A
authors.initials: FA
authors.lastname: Wijburg
authors.forename: P G
authors.initials: PG
authors.lastname: Barth
authors.forename: L A
authors.initials: LA
authors.lastname: Bindoff
authors.forename: M A
authors.initials: MA
authors.lastname: Birch-Machin
authors.forename: J F
authors.initials: JF
authors.lastname: van der Blij
authors.forename: W
authors.initials: W
authors.lastname: Ruitenbeek
authors.forename: D M
authors.initials: DM
authors.lastname: Turnbull
authors.forename: R B
authors.initials: RB
authors.lastname: Schutgens
mesh_terms: D001921:Brain / Q000201:enzymology / Q000473:pathology; D002675:Child, Preschool; D004040:Dietary Carbohydrates / Q000008:administration & dosage*; D004041:Dietary Fats / Q000008:administration & dosage*; D006801:Humans; D007223:Infant; D007657:Ketone Bodies / Q000097:blood*; D007888:Leigh Disease / Q000175:diagnosis / Q000178:diet therapy* / Q000201:enzymology; D008279:Magnetic Resonance Imaging; D008297:Male; D008931:Mitochondria, Muscle / Q000201:enzymology; D009460:Neurologic Examination; D011768:Pyruvate Dehydrogenase Complex / Q000097:blood; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000175:diagnosis / Q000178:diet therapy* / Q000201:enzymology
chemical_list: D004040:Dietary Carbohydrates; D004041:Dietary Fats; D007657:Ketone Bodies; D011768:Pyruvate Dehydrogenase Complex