DOI: 10.36347/sjmcr.2024.v12i05.087

Pages: 908-910

Background: Tyrosinemia type 1 (TT1) is an autosomal recessive disorder caused by deficiency of the enzyme fumarylacetoacetate hydrolase (FAH). Because of this defect, toxic metabolites like are formed and they can cause severe disruption of intracellular metabolism of the kidney and liver. HT1 can manifest at any age from infancy to adulthood and is characterized, if untreated, by progressive liver impairment and increased risk of hepatocellular carcinoma. Case Report: In this case, we provide a rare occurrence of Tyrosinemia type 1 at the stage of liver cirrhosis, in a 16-year-old Moroccan girl. At the age of 10, she had a follow-up due to growth failure. The clinical and biochemical factors coincided to indicate the presence of hypophosphatemia rickets, a condition often linked to Tyrosinemia type I. Regrettably, due to a delayed diagnosis of Tyrosinemia, the patient succumbed to abrupt and severe hematemesis. Conclusion: We report the first case in the literature of Tyrosinemia type 1 manifesting as hepatic insufficiency at a very late age. We strongly believe that the poor prognosis in our case was due to a delay in diagnosis and essentially to the lack of knowledge of this rare entity in our context.