A rare case report of tyrosinemia type I

Abstract

Tyrosinemia type I is a rare genetic disorder that occurs due to the deficiency of enzyme Fumarylacetoacetate hydrolase, resulting in elevated levels of tyrosine in the bloodstream. This case study focuses on a 4-year-old boy with a previous medical history of tyrosinemia type I, who has been admitted to the hospital multiple times due to this condition. The objective of presenting this case is to bring awareness regarding the challenges encountered while managing tyrosinemia, specifically medication adherence and dietary restrictions, which play a crucial role. This case report intends to provide education to medical professionals, healthcare advisors, family members, and caregivers about the rare and severe nature of tyrosinemia type I, while emphasising the importance of implementing an appropriate treatment strategy along with dietary modifications.