Since the development of screening methods for succinylacetone, with the ensuing application to newborn screening, many patients are being detected prior to clinical decompensation, thus enabling initiation of treatment with nitisinone (NTBC), which has become the medical therapy of choice after extensive, worldwide experience. Additional experience with NTBC therapy has shown a direct correlation between age of initiation and subsequent clinical course.
Most patients with tyrosinemia who are not diagnosed at birth are so ill at the time of presentation that inpatient treatment is mandatory.
Direct medical therapy is aimed at the acute hepatic decompensation and coagulopathy from the outset. Replenishment of depleted coagulation factors may be essential to prevent exsanguination. After stabilization, nitisinone should be started.
Nutritional treatment should be designed to minimize the phenylalanine-tyrosine load to only essential requirements.