We are analyzing https://link.springer.com/chapter/10.1007/8904_2013_230.

Title:
Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases | SpringerLink
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...
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mitochondrial, article, google, scholar, pubmed, cas, mutations, trmu, liver, chapter, dna, gene, emmanuel, manuscript, infantile, respiratory, chain, genet, analysis, information, defect, depletion, patients, privacy, cookies, content, publish, jimd, reports, disease, gaignard, abdelhamid, slama, combined, translation, access, diagnosis, deficiency, followup, heidelberg, revising, data, search, due, pauline, gonzales, oanez, ackermann, isabelle, correia,

Topics {✒️}

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

Schema {🗺️}

ScholarlyArticle:
      headline:Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases
      pageEnd:123
      pageStart:117
      image:https://media.springernature.com/w153/springer-static/cover/book/978-3-642-37328-2.jpg
      genre:
         Medicine
         Medicine (R0)
      isPartOf:
         name:JIMD Reports - Volume 11
         isbn:
            978-3-642-37328-2
            978-3-642-37327-5
         type:Book
      publisher:
         name:Springer Berlin Heidelberg
         logo:
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            type:ImageObject
         type:Organization
      author:
            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
                     type:PostalAddress
                  type:Organization
                  name:Centre de référence des maladies mitochondriales
                  address:
                     name:Centre de référence des maladies mitochondriales, Paris, France
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Emmanuel Gonzales
            affiliation:
                  name:Centre de référence des maladies mitochondriales
                  address:
                     name:Centre de référence des maladies mitochondriales, Paris, France
                     type:PostalAddress
                  type:Organization
                  name:AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud
                  address:
                     name:Service d’hépatologie pédiatrique, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre, France
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Oanez Ackermann
            affiliation:
                  name:Centre de référence des maladies mitochondriales
                  address:
                     name:Centre de référence des maladies mitochondriales, Paris, France
                     type:PostalAddress
                  type:Organization
                  name:AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud
                  address:
                     name:Service d’hépatologie pédiatrique, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre, France
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Philippe Labrune
            affiliation:
                  name:AP-HP, Hôpital Antoine-Béclère, Hôpitaux Universitaires Paris-Sud
                  address:
                     name:Service de pédiatrie, AP-HP, Hôpital Antoine-Béclère, Hôpitaux Universitaires Paris-Sud, Clamart, France
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Isabelle Correia
            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
                     type:PostalAddress
                  type:Organization
                  name:Centre de référence des maladies mitochondriales
                  address:
                     name:Centre de référence des maladies mitochondriales, Paris, France
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Patrice Therond
            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
                     type:PostalAddress
                  type:Organization
                  name:Centre de référence des maladies mitochondriales
                  address:
                     name:Centre de référence des maladies mitochondriales, Paris, France
                     type:PostalAddress
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            type:Person
            name:Emmanuel Jacquemin
            affiliation:
                  name:Centre de référence des maladies mitochondriales
                  address:
                     name:Centre de référence des maladies mitochondriales, Paris, France
                     type:PostalAddress
                  type:Organization
                  name:AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud
                  address:
                     name:Service d’hépatologie pédiatrique, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre, France
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Abdelhamid Slama
            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
                     type:PostalAddress
                  type:Organization
                  name:Centre de référence des maladies mitochondriales
                  address:
                     name:Centre de référence des maladies mitochondriales, Paris, France
                     type:PostalAddress
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            email:[email protected]
            type:Person
      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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Book:
      name:JIMD Reports - Volume 11
      isbn:
         978-3-642-37328-2
         978-3-642-37327-5
Organization:
      name:Springer Berlin Heidelberg
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      name:AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud
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         name:Service de pédiatrie, AP-HP, Hôpital Antoine-Béclère, Hôpitaux Universitaires Paris-Sud, Clamart, France
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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:Centre de référence des maladies mitochondriales, Paris, France
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      address:
         name:Service d’hépatologie pédiatrique, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre, France
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Person:
      name:Pauline Gaignard
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            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:Centre de référence des maladies mitochondriales, Paris, France
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      name:Emmanuel Gonzales
      affiliation:
            name:Centre de référence des maladies mitochondriales
            address:
               name:Centre de référence des maladies mitochondriales, Paris, France
               type:PostalAddress
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               name:Service d’hépatologie pédiatrique, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre, France
               type:PostalAddress
            type:Organization
      name:Oanez Ackermann
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            address:
               name:Centre de référence des maladies mitochondriales, Paris, France
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               name:Service d’hépatologie pédiatrique, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre, France
               type:PostalAddress
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      name:Philippe Labrune
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               name:Service de pédiatrie, AP-HP, Hôpital Antoine-Béclère, Hôpitaux Universitaires Paris-Sud, Clamart, France
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            name:Centre de référence des maladies mitochondriales
            address:
               name:Centre de référence des maladies mitochondriales, Paris, France
               type:PostalAddress
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      name:Patrice Therond
      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:Centre de référence des maladies mitochondriales, Paris, France
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      name:Emmanuel Jacquemin
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               type:PostalAddress
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               name:Service d’hépatologie pédiatrique, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre, France
               type:PostalAddress
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      name:Abdelhamid Slama
      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
               type:PostalAddress
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      name:Centre de référence des maladies mitochondriales, Paris, France
      name:Service d’hépatologie pédiatrique, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre, France
      name:Centre de référence des maladies mitochondriales, Paris, France
      name:Service d’hépatologie pédiatrique, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre, France
      name:Service de pédiatrie, AP-HP, Hôpital Antoine-Béclère, Hôpitaux Universitaires Paris-Sud, Clamart, France
      name:Laboratoire de biochimie, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre Cedex, France
      name:Centre de référence des maladies mitochondriales, Paris, France
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      name:Centre de référence des maladies mitochondriales, Paris, France
      name:Centre de référence des maladies mitochondriales, Paris, France
      name:Service d’hépatologie pédiatrique, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre, France
      name:Laboratoire de biochimie, AP-HP, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin-Bicêtre Cedex, France
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