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

Authors

  • Ulrike Schara
    • Pediatric NeurologyUniversity of Essen
  • Jürgen-Christoph von Kleist-Retzow
    • Department of PediatricsUniversity of Cologne
    • Center for Molecular Medicine CMMCUniversity of Cologne
  • Elke Lainka
    • Pediatric GastroenterologyUniversity of Essen
  • Patrick Gerner
    • Pediatric GastroenterologyUniversity of Essen
  • Angela Pyle
    • Mitochondrial Research Group, Institute for Ageing and HealthNewcastle University
    • Institute of Human GeneticsNewcastle University
  • Paul M. Smith
    • Mitochondrial Research Group, Institute for Ageing and HealthNewcastle University
  • Hanns Lochmüller
    • Institute of Human GeneticsNewcastle University
  • Birgit Czermin
    • Medical Genetics Center
  • Angela Abicht
    • Medical Genetics Center
  • Elke Holinski-Feder
    • Medical Genetics Center
    • Mitochondrial Research Group, Institute for Ageing and HealthNewcastle University
    • Institute of Human GeneticsNewcastle University
    • Medical Genetics Center
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

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