Cardiomyopathy in patients with type 1 tyrosinemia, and the effect of nitisinone treatment on cardiomyopathy

Purpose: This study aimed to retrospectively evaluate the frequency of cardiomyopathy and its response routinely used nitisinone treatment in patients with tyrosinemia type 1.
 Materials Methods: Participants this descriptive cross-sectional were Tyrosinemia Type 1 who under care a single metabolic unit. The primary outcome was “presence abnormal echocardiographic findings” at diagnosis impact on detected findings.
 Results: Of 54 enrolled study, 21 (38.9%) female 33 (61.1%) male. 41 evaluated using echocardiography time diagnosis. 9 (21.9%) them had hypertrophic cardiomyopathic alterations varying severity. In follow-up period, second examinations revealed improvements cardiac while treatment. Thirteen dropped out follow-up. remaining patients, 10 (24.4%) died whereas 31 (75.6%) remained alive. Plasma aspartate aminotransferase (AST), total bilirubin, direct bilirubin concentrations significantly higher witj normal evaluation.
 Conclusion: Echocardiographic examination should be done all including those an absence manifestations. presence may indicate poor prognosis. Nitisinone is found have positive tyrosinemia.