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month download article/chapter mitochondrial trna-specific 2-thiouridylase von kleist-retzow jc mitochondrial liver disease hôpitaux universitaires paris-sud oanez ackermann & emmanuel jacquemin acute liver failure respiratory chain deficiencies le kremlin-bicêtre cedex springer-verlag berlin heidelberg mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase mitochondrial liver diseases mitochondrial liver disorders mitochondrial translation defect respiratory chain complexes privacy choices/manage cookies mousson de camaret abdelhamid slama mitochondrial dna depletion device instant download mitochondrial dna depletions mitochondrial dna deletion editor information editors neonatal mitochondrial cytopathies mitochondrial membrane protein complex iv deficiency biochemistry genetics unit infantile hepatopathy related nuclear factors involved le kremlin-bicêtre jimd reports human mitochondrial diseases combined deficiencies 12s rrna mutations deoxyguanosine kinase gene european economic area patrice therond unrelated children presenting genotype–phenotype correlation genotype phenotype correlations escherichia coli k-12 nuclear genes polg allowed accumulating data trmu gene encoding conditions privacy policy chapter gaignard mitochondrial translation bi-allelic mutations chapter usd 29 check access

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ScholarlyArticle:
      headline:Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases
      pageEnd:123
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         Medicine
         Medicine (R0)
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            978-3-642-37327-5
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            name:Pauline Gaignard
            affiliation:
                  name:AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud
                  address:
                     name:Laboratoire de biochimie, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre Cedex, France
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                  name:Centre de référence des maladies mitochondriales
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                     name:Laboratoire de biochimie, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre Cedex, France
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            name:Patrice Therond
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            name:Emmanuel Jacquemin
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            name:Abdelhamid Slama
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      keywords:Respiratory Chain Complex, Splice Mutation, Mitochondrial tRNA, Recurrent Hypoglycemia, Microvesicular Steatosis
      description:Combined respiratory chain defect is a common feature in mitochondrial liver disease during early infancy. Mitochondrial DNA depletions, induced by mutations of the nuclear genes POLG, DGUOK, and MPV17, are the major causes of these combined deficiencies. More recently, mutations in TRMU gene encoding the mitochondrial tRNA-specific 2-thiouridylase were found in infantile hepatopathy related to mitochondrial translation defect. It is characterized by a combined defect of respiratory chain complexes without mitochondrial DNA depletion. We report here clinical, biochemical, and genetic findings from three unrelated children presenting with hepatopathy associated with hyperlactatemia and respiratory chain defect due to bi-allelic mutations in TRMU gene. Two patients recovered spontaneously in a few months, whereas the other one died of acute liver failure. Spontaneous remission is a rare feature in mitochondrial liver diseases, and early identification of TRMU mutations could impact on clinical management. Our results extend the small number of TRMU mutations reported in mitochondrial liver disorders and allowed accumulating data for genotype–phenotype correlation.
      datePublished:2013
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