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October 15, 2025BMJ Case Reports

Silent tyrosinemia type I with normal succinylacetone presenting as hepatocellular carcinoma in a paediatric patient

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Authors

JVJavad VerdiPEPaola Carolina EspinMBMichelle Bao

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Overview

Case report details the uncommon incidence of hepatocellular carcinoma in a child with tyrosinemia type I, suggesting the need for newborn screening.

Key Points

  • The patient was diagnosed with hepatocellular carcinoma despite normal urine succinylacetone levels.
  • Genetic testing revealed a VUS in fumarylacetoacetate hydrolase, complicating the diagnosis.
  • Elevated liver enzymes were noted alongside symptoms like weight loss and abdominal pain.
  • Absence of tyrosinemia type I detection during newborn screening emphasizes the need for improved early detection.

Cite This Study

Verdi et al. (2025) studied this question.

synapsesocial.com/papers/68ef858cc6a308ba063555d6https://doi.org/10.1136/bcr-2025-267282
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Also Consider

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  1. 1DIFFERENT CLINIC DIFFERENT DIAGNOSIS: TYROSINEMIA TYPE 32025
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  4. 4Management of porphyria-like syndrome in tyrosinemia type 12025
  5. 5Evaluating the Incidence, Risk Factors, and Diagnostic Limitations of Transient Neonatal Tyrosinemia in Iranian Newborns2025