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

Lookup NU author(s): Dr Angela Pyle, Professor Hanns Lochmuller, Professor Rita HorvathORCiD

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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.

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Author(s): Schara U, von Kleist-Retzow JC, Lainka E, Gerner P, Pyle A, Smith PM, Lochmuller H, Czermin B, Abicht A, Holinski-Feder E, Horvath R

Publication type: Article

Publication status: Published

Journal: Journal of Inherited Metabolic Disease

Year: 2011

Volume: 34

Issue: 1

Pages: 197-201

Print publication date: 01/02/2011

ISSN (print): 0141-8955

ISSN (electronic): 1573-2665

Publisher: Springer Netherlands

URL: http://dx.doi.org/10.1007/s10545-010-9250-z

DOI: 10.1007/s10545-010-9250-z

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