title: Mitochondrial DNA depletion syndrome causing liver failure.
abstract: BACKGROUND
  Mitochondrial DNA depletion syndromes are disorders of Mitochondrial DNA maintenance causing varied manifestations, including fulminant liver failure.
  
  
  METHODS
  Two infants, presenting with severe fatal hepatopathy.
  
  
  METHODS
  Raised serum lactate, positive family history (in first case), and absence of other causes of acute liver failure.
  
  
  RESULTS
  Case 1 with homozygous mutation, c.3286C>T (p.Arg1096Cys) in POLG gene and case 2 with compound heterozygous mutations, novel c.408T>G (p.Tyr136X) and previously reported c.293C>T (p.Pro98Leu), in MPV17 gene.
  
  
  CONCLUSIONS
  Mitochondrial DNA depletion syndrome is a rare cause of severe acute liver failure in children.
authors.affiliation: Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi; and *Department of Pediatric Gastroenterology, Hepatology and Liver Transplantation, Medanta - The Medicity, Gurgaon. Correspondence to: Dr Sunita Bijarnia-Mahay, Senior Consultant, Center of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi 110 060, India. bijarnia@gmail.com.
authors.forename: Sunita
authors.initials: S
authors.lastname: Bijarnia-Mahay
authors.forename: Neelam
authors.initials: N
authors.lastname: Mohan
authors.forename: Deepak
authors.initials: D
authors.lastname: Goyal
authors.forename: I C
authors.initials: IC
authors.lastname: Verma
mesh_terms: D017809:Fatal Outcome; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D017093:Liver Failure / Q000175:diagnosis / Q000209:etiology; D008297:Male; D028361:Mitochondrial Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics