A Report of A Rare Case: Tyrosinemia Type I In A 2-Year-Old Boy

Tyrosinemia is a congenital metabolic disease in which the breakdown of the amino acid tyrosine is reduced and its amount is increased in the body. Tyrosine metabolites can involve specific organs that according to the clinical manifestations there are three types of this disease.

Case:

 This article reports type 1 tyrosinemia in a 2-year-old child who complained of urinary problem and restlessness. Despite the absence of pathological findings in fetal ultrasound screening, imaging findings indicate involvement of both kidneys.

It is a rare, inherited and metabolic disease that despite the challenges of diagnosis has simple cure.