Journal of Inherited Metabolic Disease

, Volume 34, Issue 1, pp 197–201

Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations

  • Ulrike Schara
  • Jürgen-Christoph von Kleist-Retzow
  • Elke Lainka
  • Patrick Gerner
  • Angela Pyle
  • Paul M. Smith
  • Hanns Lochmüller
  • Birgit Czermin
  • Angela Abicht
  • Elke Holinski-Feder
  • Rita Horvath
Original Article

DOI: 10.1007/s10545-010-9250-z

Cite this article as:
Schara, U., von Kleist-Retzow, J., Lainka, E. et al. J Inherit Metab Dis (2011) 34: 197. doi:10.1007/s10545-010-9250-z
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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.

Copyright information

© SSIEM and Springer 2010

Authors and Affiliations

  • Ulrike Schara
    • 1
  • Jürgen-Christoph von Kleist-Retzow
    • 2
    • 3
  • Elke Lainka
    • 4
  • Patrick Gerner
    • 4
  • Angela Pyle
    • 5
    • 6
  • Paul M. Smith
    • 5
  • Hanns Lochmüller
    • 6
  • Birgit Czermin
    • 7
  • Angela Abicht
    • 7
  • Elke Holinski-Feder
    • 7
  • Rita Horvath
    • 5
    • 6
    • 7
  1. 1.Pediatric NeurologyUniversity of EssenEssenGermany
  2. 2.Department of PediatricsUniversity of CologneCologneGermany
  3. 3.Center for Molecular Medicine CMMCUniversity of CologneCologneGermany
  4. 4.Pediatric GastroenterologyUniversity of EssenEssenGermany
  5. 5.Mitochondrial Research Group, Institute for Ageing and HealthNewcastle UniversityNewcastle upon TyneUK
  6. 6.Institute of Human GeneticsNewcastle UniversityNewcastle upon TyneUK
  7. 7.Medical Genetics CenterMunichGermany