IndiaResearch and clinical trials
Late diagnosis in tyrosinemia type 1: all 18 children in India had cirrhosis at diagnosis
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
In India, researchers reviewed the results of 18 children with tyrosinemia type 1 who were diagnosed late. Most of the children were diagnosed after the age of one. At diagnosis, all of them had cirrhosis of the liver. Liver cancer was seen in eight children. Only 7 children were able to start the drug nitisinone.
What does it mean for patients and families?
This study shows the importance of early diagnosis and of starting the drug early. The treatment plan is made with a pediatric metabolic specialist.
Source
Scientific paper: Hereditary Tyrosinemia Type 1: Success and Challenges in Indian Subcontinent. Indian Pediatrics, 2025. DOI: 10.1007/s13312-025-00182-7 · PubMed 41004064
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Tyrosinemia type 1
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.