EC Clinical and Medical Case Reports

Hereditary tyrosinemia type 1 (HT1) is a rare metabolic disorder that predisposes patients to hepatocellular carcinoma (HCC) in cases of delayed diagnosis or inadequate treatment. We report the case of a 9-year-old boy with HT1, initially started on treatment but lost to follow-up. He presented with growth retardation and a large hepatic mass, later confirmed as HCC. This case highlights the critical importance of early diagnosis, continuous treatment, and regular monitoring to prevent severe complications of HT1.

 Keywords: Hereditary Tyrosinemia Type 1; Hepatocellular Carcinoma; Alpha-Fetoprotein; Liver Transplantation

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