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

@article{Schara2010AcuteLF,
  title={Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations},
  author={Ulrike Schara and J{\"u}rgen-Christoph von Kleist-Retzow and Elke Lainka and Patrick Gerner and Angela Pyle and Paul M. Smith and Hanns Lochm{\"u}ller and Birgit Czermin and Angela Abicht and Elke Holinski-Feder and Rita Horvath},
  journal={Journal of Inherited Metabolic Disease},
  year={2010},
  volume={34},
  pages={197-201}
}
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… CONTINUE READING
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