Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1993 Apr;91(4):1816-21.
doi: 10.1172/JCI116393.

Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect

E A Kvittingen  1 , H Rootwelt, P Brandtzaeg, A Bergan, R Berger
Affiliations

Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect

E A Kvittingen et al. J Clin Invest. 1993 Apr.

Abstract

Two Norwegian patients with chronic tyrosinemia type I showed > 50% residual fumarylacetoacetase activity in liver samples obtained during liver transplantation. The enzyme characteristics of both patients were comparable with those of a normal control. Immunohistochemistry on liver sections from these patients and from three other Norwegian tyrosinemia patients revealed a mosaicism of fumarylacetoacetase immunoreactivity corresponding completely or partly to some of the regenerating nodules. This appearance of enzyme protein is presumably induced by the disease process. The mechanism involved remains unclear and could be caused by a genetic alteration, regained translation of messenger RNA, or to enhanced stability of an abnormal enzyme.

PubMed Disclaimer

References

    1. Am J Hum Genet. 1990 Aug;47(2):308-16 - PubMed
    1. J Invest Dermatol. 1989 Oct;93(4):460-5 - PubMed
    1. Mutat Res. 1991 Sep-Oct;250(1-2):345-9 - PubMed
    1. J Inherit Metab Dis. 1991;14(4):554-62 - PubMed
    1. Pediatr Res. 1992 Jan;31(1):43-6 - PubMed