title: Mitochondrial hepatopathy in adults: a case series and review of the literature.
abstract: OBJECTIVE
  Mitochondrial diseases affect about 1/5000-1/10000 in the population. Twenty percent of patients with mitochondrial disease show liver involvement. In contrast to current belief among most internists, these diseases do not only present in childhood.
  
  
  METHODS
  We present four cases of adults (three with Alpers-Huttenlocher syndrome and one with mitochondrial neurogastrointestinal encephalomyopathy), diagnosed between 2005 and 2010, in our university referral center.
  
  
  RESULTS
  We focus on the broad clinical spectrum of liver involvement in mitochondrial diseases and their diagnosis. Biochemical investigations are often found to be inconclusive, and genetic confirmation cannot always be obtained, leaving many patients without a final diagnosis. Evidence-based causal therapy is unavailable for most mitochondrial diseases and liver transplantation for this indication remains a controversial issue.
  
  
  CONCLUSIONS
  For clinicians, it is important to consider the possibility of an underlying mitochondrial disorder when there is systemic involvement (more than one organ affected), a suggestive family history, or an elevated level of lactic acid in the blood or cerebrospinal fluid.
authors: Metabolic Center UZ Leuven, Leuven, Belgium.
authors: Kristien
authors: K
authors: Cloots
authors: Jef
authors: J
authors: Verbeek
authors: Hans
authors: H
authors: Orlent
authors: Wouter
authors: W
authors: Meersseman
authors: David
authors: D
authors: Cassiman
mesh_terms: D000328:Adult; D000367:Age Factors; D004272:DNA, Mitochondrial / Q000378:metabolism*; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D040941:Heredity; D006801:Humans; D007418:Intestinal Pseudo-Obstruction / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D008297:Male; D008928:Mitochondria / Q000378:metabolism* / Q000473:pathology; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D039141:Muscular Dystrophy, Oculopharyngeal; D009886:Ophthalmoplegia / Q000151:congenital; D010375:Pedigree; D010641:Phenotype; D011237:Predictive Value of Tests; D012307:Risk Factors; D016896:Treatment Outcome; D055815:Young Adult; D028361:Mitochondrial Diseases
chemical_list: D004272:DNA, Mitochondrial