title: Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes.
abstract: Our aime was to study the short- and long-term effects of ketogenic diet on the disease course and disease-related outcomes in patients with pyruvate dehydrogenase complex deficiency, the metabolic factors implicated in treatment outcomes, and potential safety and compliance issues.
  
  
  
  Pediatric patients diagnosed with pyruvate dehydrogenase complex deficiency in Sweden and treated with ketogenic diet were evaluated. Study assessments at specific time points included developmental and neurocognitive testing, patient log books, and investigator and parental questionnaires. A systematic literature review was also performed.
  
  
  
  Nineteen patients were assessed, the majority having prenatal disease onset. Patients were treated with ketogenic diet for a median of 2.9 years. All patients alive at the time of data registration at a median age of 6 years. The treatment had a positive effect mainly in the areas of epilepsy, ataxia, sleep disturbance, speech/language development, social functioning, and frequency of hospitalizations. It was also safe-except in one patient who discontinued because of acute pancreatitis. The median plasma concentration of ketone bodies (3-hydroxybutyric acid) was 3.3 mmol/l. Poor dietary compliance was associated with relapsing ataxia and stagnation of motor and neurocognitive development. Results of neurocognitive testing are reported for 12 of 19 patients.
  
  
  
  Ketogenic diet was an effective and safe treatment for the majority of patients. Treatment effect was mainly determined by disease phenotype and attainment and maintenance of ketosis.
authors.affiliation: Department of Pediatrics, The Queen Silvia Children's Hospital, University of Gothenburg, Smörslottsgatan 1, 41685, Gothenburg, Sweden. kalliopi.sofou@vgregion.se.
authors.forename: Kalliopi
authors.initials: K
authors.lastname: Sofou
authors.affiliation: Department of Pediatrics, Astrid Lindgren Children's Hospital, Karolinska Institute, Stockholm, Sweden.
authors.forename: Maria
authors.initials: M
authors.lastname: Dahlin
authors.affiliation: Department of Pediatrics, The Queen Silvia Children's Hospital, University of Gothenburg, Smörslottsgatan 1, 41685, Gothenburg, Sweden.
authors.forename: Tove
authors.initials: T
authors.lastname: Hallböök
authors.affiliation: Department of Pediatrics, Astrid Lindgren Children's Hospital, Karolinska Institute, Stockholm, Sweden.
authors.forename: Marie
authors.initials: M
authors.lastname: Lindefeldt
authors.affiliation: Department of Pediatrics, The Queen Silvia Children's Hospital, University of Gothenburg, Smörslottsgatan 1, 41685, Gothenburg, Sweden.
authors.forename: Gerd
authors.initials: G
authors.lastname: Viggedal
authors.affiliation: Department of Pediatrics, The Queen Silvia Children's Hospital, University of Gothenburg, Smörslottsgatan 1, 41685, Gothenburg, Sweden.
authors.forename: Niklas
authors.initials: N
authors.lastname: Darin
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D055423:Diet, Ketogenic / Q000379:methods; D004827:Epilepsy / Q000097:blood / Q000178:diet therapy; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007657:Ketone Bodies / Q000097:blood; D007662:Ketosis / Q000097:blood / Q000178:diet therapy; D008137:Longitudinal Studies; D008297:Male; D000073216:Mental Status and Dementia Tests; D009043:Motor Activity / Q000502:physiology; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000097:blood / Q000178:diet therapy*; D013548:Sweden; D016896:Treatment Outcome
chemical_list: D007657:Ketone Bodies