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jürgen-christoph von kleist-retzow elke holinski-feder & rita horvath month download article/chapter acute liver failure liver cirrhosis remained severe liver failure von kleist-retzow acute liver disease mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase mitochondrial-related nuclear genes mitochondrial ribosomal protein full article pdf lactic acidosis infantile encephalopathy sideroblastic anemia–mlasa syndrome mitochondrial trna trp privacy choices/manage cookies oxidative phosphorylation deficiencies sánchez-alcázar ja mitochondrial dna mutations rita horvath neuromuscular diseases mitochondrial dna depletion 12s rrna mutations patrick gerner related subjects check access instant access article schara elke lainka subsequent cirrhosis infantile reversible cytochrome liver histology human trmu encoding european economic area hanns lochmüller tuppen ha van den heuvel excellent technical assistance coenzyme q10 deficiency conditions privacy policy ribosomal protein friedrich-baur institute oxidase deficiency myopathy article journal primary manifestation molecular medicine cmmc trmu gene accepting optional cookies human genetics

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         headline:Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations
         description: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.
         datePublished:2010-12-10T00:00:00Z
         dateModified:2010-12-10T00:00:00Z
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         pageEnd:201
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         keywords:
            Lactic Acidosis
            CoQ10
            Acute Liver Failure
            Compound Heterozygous Mutation
            Respiratory Chain Enzyme
            Metabolic Diseases
            Human Genetics
            Pediatrics
            Internal Medicine
            Biochemistry
            general
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      headline:Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations
      description: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.
      datePublished:2010-12-10T00:00:00Z
      dateModified:2010-12-10T00:00:00Z
      pageStart:197
      pageEnd:201
      sameAs:https://doi.org/10.1007/s10545-010-9250-z
      keywords:
         Lactic Acidosis
         CoQ10
         Acute Liver Failure
         Compound Heterozygous Mutation
         Respiratory Chain Enzyme
         Metabolic Diseases
         Human Genetics
         Pediatrics
         Internal Medicine
         Biochemistry
         general
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                     type:PostalAddress
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            name:Jürgen-Christoph von Kleist-Retzow
            affiliation:
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                  address:
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                     type:PostalAddress
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                  address:
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