title: Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations.
abstract: Combined respiratory chain deficiency accounts for about 30% of mitochondrial respiratory chain deficiencies and is frequently associated with mtDNA depletion, deletions or point mutations. However combined respiratory chain deficiency may also be caused by mutations in nuclear genes affecting mitochondrial translation. Here we describe a 2-year-old girl, who developed an acute, isolated, severe liver failure with mitochondrial pathology and decreased respiratory chain enzyme activities both in liver and skeletal muscle at 4 months of age. Her liver function improved significantly within a month, liver function tests returned to normal. Liver cirrhosis remained without any further complications so far. Pathogenic compound heterozygous mutations were identified in the TRMU gene. This condition is one of the few mitochondrial disorders with a life-threatening onset showing recovery later in life, therefore a prompt diagnosis and treatment of these patients has great importance in clinical practice. We suggest that TRMU deficiency should be considered in infants with acute liver disease.
authors.affiliation: Pediatric Neurology, University of Essen, Essen, Germany.
authors.forename: Ulrike
authors.initials: U
authors.lastname: Schara
authors.forename: Jürgen-Christoph
authors.initials: JC
authors.lastname: von Kleist-Retzow
authors.forename: Elke
authors.initials: E
authors.lastname: Lainka
authors.forename: Patrick
authors.initials: P
authors.lastname: Gerner
authors.forename: Angela
authors.initials: A
authors.lastname: Pyle
authors.forename: Paul M
authors.initials: PM
authors.lastname: Smith
authors.forename: Hanns
authors.initials: H
authors.lastname: Lochmüller
authors.forename: Birgit
authors.initials: B
authors.lastname: Czermin
authors.forename: Angela
authors.initials: A
authors.lastname: Abicht
authors.forename: Elke
authors.initials: E
authors.lastname: Holinski-Feder
authors.forename: Rita
authors.initials: R
authors.lastname: Horvath
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008103:Liver Cirrhosis / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D017114:Liver Failure, Acute / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D028361:Mitochondrial Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D024101:Mitochondrial Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000502:physiology; D012359:tRNA Methyltransferases / Q000235:genetics*
chemical_list: D024101:Mitochondrial Proteins; D012359:tRNA Methyltransferases; C496706:TRMU protein, human