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Updated: Aug 18, 2026

Cell Type-specific Gene Expression Profiling in the Mouse Liver
Published on: September 17, 2019
Liver fibrosis in carbamoylphosphate synthetase deficiency
A Zimmermann1, C Moll, C Bachmann
1Institute of Pathology, University of Bern, Switzerland.
Abstract:
Structural sequelae of inherited defects of the urea cycle in general, and their liver pathology in particular, are still not well understood. This holds true especially for the possible late effects in involved organs of patients now surviving longer because of more effective therapy. Some urea cycle defects may result in chronic and progressive liver damage, as has been reported. A peculiar type of liver fibrosis was observed in a girl with carbamoylphosphate synthetase deficiency, who survived for 1 year and 7 months. Hepatic fibrosis, or even cirrhosis, has been observed in argininosuccinic aciduria. Long-term survivors with urea cycle disorders may form a group at risk for the development of chronic fibrosing liver disease.
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