Hepatic copper accumulation: a novel feature in transient infantile liver failure due to TRMU mutations?

Grover, Z., Lewindon, P., Clousten, A., Shaag, A., Elpeleg, O. and Coman, D. (2015). Hepatic copper accumulation: a novel feature in transient infantile liver failure due to TRMU mutations?. In Zschocke, Johannes, Baumgartner, Matthias, Morava, Eva, Patterson, Marc, Rahman, Shamima and Peters, Verena (Ed.), JIMD Reports, Volume 21 (pp. 109-113) Berlin, Germany: Springer Berlin Heidelberg. doi:10.1007/8904_2014_402


Author Grover, Z.
Lewindon, P.
Clousten, A.
Shaag, A.
Elpeleg, O.
Coman, D.
Title of chapter Hepatic copper accumulation: a novel feature in transient infantile liver failure due to TRMU mutations?
Title of book JIMD Reports, Volume 21
Place of Publication Berlin, Germany
Publisher Springer Berlin Heidelberg
Publication Year 2015
Sub-type Research book chapter (original research)
DOI 10.1007/8904_2014_402
Open Access Status Not yet assessed
Year available 2016
Series JIMD Reports
ISBN 9783662471715
9783662471722
ISSN 2192-8304
Editor Zschocke, Johannes
Baumgartner, Matthias
Morava, Eva
Patterson, Marc
Rahman, Shamima
Peters, Verena
Volume number 21
Chapter number 13
Start page 109
End page 113
Total pages 5
Total chapters 16
Collection year 2017
Language eng
Formatted Abstract/Summary
Defects in the mitochondrial respiratory chain can induce a heterogeneous range of clinical and biochemical manifestations. Hepatic involvement includes acute fulminant hepatic failure, microvesicular steatosis, neonatal non-alloimmune haemochromatosis and cirrhosis. Recently pathogenic mutations in tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) gene (OMIM 610230) have been demonstrated to cause transient infantile liver failure (OMIM 613070). The human TRMU gene encodes a mitochondrial protein, 5-methylaminomethyl-2-thiouridylate methyltransferase, whose molecular function is that of mitochondrial tRNA modification.

We report an infant who presented with acute liver failure, in whom we observed hepatic copper intoxication and cirrhosis on liver biopsy. We postulate that the hepatic copper intoxication observed in our patient is most likely a secondary event associated with cholangiopathy. Periportal copper accumulation has been implicated in causing secondary mitochondrial dysfunction; the impact of copper accumulation in patients with TRMU mutations is unclear and warrants long-term clinical follow-up.
Q-Index Code B1
Q-Index Status Provisional Code
Institutional Status UQ

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