Late Diagnosis of Hereditary Tyrosinemia Type I: The Case of Two First Cousins

Hereditary Tyrosinemia Type I (HT1) is a rare metabolic disorder caused by a deficiency in fumarylacetoacetate hydrolase, leading to the accumulation of toxic metabolites and resulting in hepatic and renal complications. This case report details a 10-year-old patient from a consanguineous family with a significant history of hepatic failure due to hepatocellular carcinoma. The patient presented with abdominal pain, jaundice, and urinary abnormalities, which led to the diagnosis of HT1, confirmed by elevated succinylacetone levels. Despite initial treatment with nitisinone and a low-protein diet, surgical resection of the hepatic mass was impeded by vascular invasion, necessitating preoperative chemotherapy. This case underscores the importance of early detection and a multidisciplinary approach in managing HT1, highlighting ongoing research into advanced therapies and genetic interventions to improve patient outcomes.