期刊
MOLECULAR GENETICS AND METABOLISM
卷 105, 期 2, 页码 263-265出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2011.10.016
关键词
Urea cycle disorders (UCDs); Ornithine transcarbamylase deficiency (OTCD); Hepatocellular carcinoma (HCC); Gene therapy; Adenovirus
资金
- affiliates of ReGenX Holdings
- NIH [P01 HD057247, U54 HD061221]
- Kettering Family Foundation
- O'Malley Family Foundation
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. (C) 2011 Elsevier Inc. All rights reserved.
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