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Outcome of Tyrosinemia Type 1 in Indian Children

Sonal Mirani1, Vishrutha Poojari1, Naman S Shetty1

  • 1Department of Pediatric Gastroenterology and Hepatology, B J Wadia Hospital for Children, Mumbai, India.

Journal of Clinical and Experimental Hepatology
|March 8, 2021
PubMed

Insights

2-nitro-4-trifluoromethylbenzoyl-1,3-cyclohexanedione (NTBC) therapy significantly improves outcomes for children with tyrosinemia type 1 in India. Long-term monitoring is crucial for managing potential complications like liver cancer.

Area of Science:

  • Biochemistry
  • Pediatric Medicine
  • Genetics

Background:

  • Tyrosinemia type 1 is a rare genetic disorder.
  • Early diagnosis and treatment are critical for managing tyrosinemia type 1.

Purpose of the Study:

  • To evaluate the treatment outcomes of children with tyrosinemia type 1 in India.
  • To assess the efficacy of 2-nitro-4-trifluoromethylbenzoyl-1,3-cyclohexanedione (NTBC) therapy.

Main Methods:

  • A retrospective observational study of 11 pediatric patients with tyrosinemia type 1.
  • Data collected included age at symptom onset, diagnosis, NTBC initiation, dosage, and duration.
  • Patient outcomes were monitored.

Main Results:

  • Common presentations included chronic liver disease (72.72%), rickets (18.18%), and hepatomegaly (100%).
  • NTBC therapy, with a median duration of 13.5 months and median dose of 1 mg/kg/day, showed positive results.
  • Eight patients are stable on NTBC; one patient died, and another developed hepatocellular carcinoma (HCC) requiring transplantation.

Conclusions:

  • NTBC therapy is effective in improving the prognosis of tyrosinemia type 1.
  • Long-term follow-up is essential to monitor for HCC development and the need for liver transplantation.
Abstract

Keywords:
AFP, Alpha-feto ProteinALP, Alkaline PhosphataseCLD, Chronic Liver DiseaseGGPT, γ-glutamine TransaminaseHCC, Hepatocellular CarcinomaINR, International Normalized RatioLFT, Liver Function TestNTBCNTBC, 2-nitro-4-trifluoromethylbenzoyl-1,3-cyclohexanedioneRTA, Renal Tubular AcidosisSA, SuccinylacetoneSGOT, Aspartate TransaminaseSGPT, Alanine TransaminaseTyrosinemia type 1hepatocellular carcinomaliver transplantsuccinylacetone

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