Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 8473520.
- Also identified by PMC identifier 288163.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
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.
Medical subject headings
- Amino Acid Metabolism, Inborn Errors
- Hydrolases
- Tyrosine