Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2009-9-7
pubmed:abstractText
Acute liver failure in infancy accompanied by lactic acidemia was previously shown to result from mtDNA depletion. We report on 13 unrelated infants who presented with acute liver failure and lactic acidemia with normal mtDNA content. Four died during the acute episodes, and the survivors never had a recurrence. The longest follow-up period was 14 years. Using homozygosity mapping, we identified mutations in the TRMU gene, which encodes a mitochondria-specific tRNA-modifying enzyme, tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase. Accordingly, the 2-thiouridylation levels of the mitochondrial tRNAs were markedly reduced. Given that sulfur is a TRMU substrate and its availability is limited during the neonatal period, we propose that there is a window of time whereby patients with TRMU mutations are at increased risk of developing liver failure.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/19732863, http://linkedlifedata.com/resource/pubmed/commentcorrection/19732863-10024171, http://linkedlifedata.com/resource/pubmed/commentcorrection/19732863-10753928, http://linkedlifedata.com/resource/pubmed/commentcorrection/19732863-11063576, http://linkedlifedata.com/resource/pubmed/commentcorrection/19732863-11687800, http://linkedlifedata.com/resource/pubmed/commentcorrection/19732863-12765840, http://linkedlifedata.com/resource/pubmed/commentcorrection/19732863-15122711, http://linkedlifedata.com/resource/pubmed/commentcorrection/19732863-15317755, http://linkedlifedata.com/resource/pubmed/commentcorrection/19732863-15505824, http://linkedlifedata.com/resource/pubmed/commentcorrection/19732863-15509579, http://linkedlifedata.com/resource/pubmed/commentcorrection/19732863-16582910, http://linkedlifedata.com/resource/pubmed/commentcorrection/19732863-16826519, http://linkedlifedata.com/resource/pubmed/commentcorrection/19732863-17847012, http://linkedlifedata.com/resource/pubmed/commentcorrection/19732863-3044450, http://linkedlifedata.com/resource/pubmed/commentcorrection/19732863-3211618, http://linkedlifedata.com/resource/pubmed/commentcorrection/19732863-7070878
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
1537-6605
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
85
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
401-7
pubmed:dateRevised
2010-9-27
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Acute infantile liver failure due to mutations in the TRMU gene.
pubmed:affiliation
Department of Human Genetics and Metabolic Diseases, Hadassah, the Hebrew University Medical Center, Jerusalem, Israel.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't