Liver fibrosis in carbamoylphosphate synthetase deficiency.
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.
Zimmermann
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A
Institute of Pathology, University of Bern, Switzerland.
Moll
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Bachmann
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C
D019731:Carbon-Nitrogen Ligases; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D007223:Infant; D008025:Ligases / Q000172:deficiency*; D008099:Liver / Q000201:enzymology / Q000473:pathology; D008103:Liver Cirrhosis / Q000201:enzymology* / Q000401:mortality / Q000473:pathology
D008025:Ligases; D019731:Carbon-Nitrogen Ligases; C024233:carbamoyl-phosphate synthetase (N-acetylglutamate)