Document Detail


Hepatocellular carcinoma in a research subject with ornithine transcarbamylase deficiency.
MedLine Citation:
PMID:  22129577     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A 66 year old woman who is a manifesting heterozygote for ornithine transcarbamylase deficiency (OTCD) presented with hepatocellular carcinoma (HCC). Fourteen years prior to this presentation she participated in a phase I gene therapy study which used an adenoviral vector, thought to be non-oncogenic, to deliver a normal OTC gene to hepatocytes [1]. A recent review of data collected through a national longitudinal study of individuals with urea cycle defects [2,3] suggests that early urea cycle disorders (UCDs) are associated with hepatocellular damage and liver dysfunction in many cases. This may predispose an affected individual to a substantially increased risk of developing HCC, as has been observed in certain other inborn errors of metabolism. We speculate that the underlying urea cycle defect may be the cause of HCC in this individual.
Authors:
James M Wilson; Oleg A Shchelochkov; Renata C Gallagher; Mark L Batshaw
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2011-11-07
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  105     ISSN:  1096-7206     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:  2012 Feb 
Date Detail:
Created Date:  2012-01-23     Completed Date:  2012-07-23     Revised Date:  2014-09-24    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  263-5     Citation Subset:  IM    
Copyright Information:
Copyright © 2011 Elsevier Inc. All rights reserved.
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MeSH Terms
Descriptor/Qualifier:
Adenoviridae / genetics
Aged
Carcinoma, Hepatocellular / complications,  diagnosis,  pathology*
Clinical Trials, Phase I as Topic
Female
Genetic Therapy
Heterozygote
Humans
Liver Neoplasms / complications,  diagnosis,  pathology*
Ornithine Carbamoyltransferase / genetics,  metabolism*
Ornithine Carbamoyltransferase Deficiency Disease / complications,  genetics,  therapy*
Urea Cycle Disorders, Inborn / genetics,  therapy*
Grant Support
ID/Acronym/Agency:
P01 HD057247/HD/NICHD NIH HHS; P01 HD057247/HD/NICHD NIH HHS; P01 HD057247-04/HD/NICHD NIH HHS; U54 HD061221/HD/NICHD NIH HHS; U54 HD061221/HD/NICHD NIH HHS; U54 HD061221-06/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
EC 2.1.3.3/Ornithine Carbamoyltransferase
Comments/Corrections

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