title: Juvenile Alpers disease.
abstract: BACKGROUND
  Alpers disease is commonly associated with polymerase gamma deficiency and usually affects infants or young children.
  
  
  OBJECTIVE
  To report a juvenile case of Alpers disease due to mutations in the polymerase gamma gene (POLG1).
  
  
  METHODS
  Clinical, pathologic, biochemical, and molecular analysis.
  
  
  METHODS
  Tertiary care university hospital and academic institutions.
  
  
  METHODS
  A 17-year-old adolescent girl with intractable epilepsy and liver disease.
  
  
  METHODS
  Clinical course and pathologic, biochemical, and molecular features.
  
  
  RESULTS
  Biochemical and pathologic evidence suggested a respiratory chain defect, which was confirmed by enzyme analysis of the liver. Mutational analysis of POLG1 showed 2 novel mutations: T851A and R1047W.
  
  
  CONCLUSIONS
  The POLG1 mutations can cause juvenile and childhood Alpers disease.
authors.affiliation: Department of Pediatrics and Child Health, Wellington School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand.
authors.forename: Esko
authors.initials: E
authors.lastname: Wiltshire
authors.forename: Guido
authors.initials: G
authors.lastname: Davidzon
authors.forename: Salvatore
authors.initials: S
authors.lastname: DiMauro
authors.forename: Hasan O
authors.initials: HO
authors.lastname: Akman
authors.forename: Lynette
authors.initials: L
authors.lastname: Sadleir
authors.forename: Lindsay
authors.initials: L
authors.lastname: Haas
authors.forename: Jane
authors.initials: J
authors.lastname: Zuccollo
authors.forename: Alison
authors.initials: A
authors.lastname: McEwen
authors.forename: David R
authors.initials: DR
authors.lastname: Thorburn
mesh_terms: D000293:Adolescent; D000927:Anticonvulsants / Q000627:therapeutic use; D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D004351:Drug Resistance; D004569:Electroencephalography; D004579:Electron Transport / Q000235:genetics / Q000502:physiology; D005091:Exons / Q000235:genetics; D005190:Family; D005260:Female; D006579:Heterozygote; D006801:Humans; D008107:Liver Diseases / Q000235:genetics / Q000473:pathology; D008279:Magnetic Resonance Imaging; D009154:Mutation; D012640:Seizures / Q000209:etiology / Q000473:pathology
chemical_list: D000927:Anticonvulsants; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human