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Hereditary Tyrosinemia Type 1: Success and Challenges in Indian Subcontinent

Samannay Das1, Vikrant Sood2, Bikrant Bihari Lal1

  • 1Institute of Liver and Biliary Sciences, Department of Pediatric Hepatology, New Delhi, India.

Indian Pediatrics
|September 26, 2025
PubMed

Insights

Hereditary tyrosinemia type 1 (HT-1) outcomes in Indian children are poor, with high rates of cirrhosis and hepatocellular carcinoma (HCC). Liver transplantation is crucial for survival in these patients.

Area of Science:

  • Pediatric Hepatology
  • Metabolic Disorders
  • Genetics

Background:

  • Hereditary tyrosinemia type 1 (HT-1) is a rare genetic disorder affecting liver function.
  • Early diagnosis and treatment are critical for managing HT-1.
  • Limited data exists on HT-1 outcomes in the Indian subcontinent.

Purpose of the Study:

  • To analyze the clinical profile and treatment outcomes of Indian children diagnosed with hereditary tyrosinemia type 1 (HT-1).
  • To evaluate the impact of nitisinone (NTBC) treatment and liver transplantation on patient survival and disease progression.

Main Methods:

  • Retrospective analysis of data from children with confirmed HT-1 diagnosis between 2013 and 2024.
  • Inclusion of patients admitted to a pediatric hepatology unit at a tertiary care center.
  • Comparison of outcomes between children treated with NTBC and those not receiving it.

Main Results:

  • Eighteen children with HT-1 were analyzed, all presenting with established cirrhosis.
  • Hepatocellular carcinoma (HCC) was present at diagnosis in 4 patients and developed in 4 others during follow-up.
  • Only 38.9% of children received nitisinone (NTBC); outcomes were poor in the non-NTBC group, with 4 liver transplants and the rest dying.

Conclusions:

  • Native liver outcomes for HT-1 in India are dismal, characterized by a high incidence of HCC.
  • Liver transplantation (LT) is essential for achieving optimal outcomes in Indian children with HT-1.
  • Post-LT survival was 100%, with no new-onset or recurrent HCC, highlighting its efficacy.
Abstract

Keywords:
Fumarylacetoacetate hydrolaseInborn errors of metabolismLiver transplantNitisinone

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