Hepatocellular carcinoma in a research subject with ornithine transcarbamylase deficiency
JM Wilson, OA Shchelochkov, RC Gallagher… - Molecular genetics and …, 2012 - Elsevier
A 66year 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 …
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 …