Akademik Veri Yönetim Sistemi
Meandros Medical And Dental Journal, cilt.26, sa.1, ss.33-41, 2025 (ESCI)
Objective: Hereditary Tyrosinemia Type 1 (HT1) is a metabolic disorder due to fumarylacetoacetate hydrolase deficiency, which can lead to liver and kidney damage. This study aims to expand our knowledge of the clinical presentation, diagnosis, and outcomes of HT1 patients from southeastern Türkiye, a region with high consanguinity rates. Materials and Methods: This retrospective multicenter study included 20 HT1 patients from three metabolic centers in southeastern Türkiye between January 2018 and March 2021. Demographic, clinical, laboratory, and genetic data were retrieved. Patients were divided into acute, subacute, and chronic forms according to the beginning of their symptoms. The statistical analyses consisted of descriptive and inferential methods. Results: The parents of all 20 cases (9F/11M) were consanguineous. The mean diagnostic age was 10.5312.54 months, with an average diagnostic delay of 2.964.42 months. The most common form was acute HT1 (55%), followed by chronic (25%) and subacute (20%) forms. Common finding was hepatomegaly (40%). Tubulopathy was frequent in chronic HT1 (80%). Increased α-fetoprotein levels were found in 60% of the cases at the diagnosis. Hepatocellular carcinoma developed in three patients. Two died of the disease. Genetic studies showed that the most common mutation was c.554-1G>T (27%). Conclusion: The study highlights the clinical burden and the challenge in managing HT1 in Türkiye, attributed to late diagnosis resulting from absence of the newborn screening (NBS). Although studies have demonstrated that early nitisinone treatment improves outcomes, long-term follow-up for complications like hepatocellular carcinoma is imperative. NBS needs to be extended to reduce morbidity and mortality associated with HT1.