Abstract

Tyrosinemia is a rare metabolic disorder manifested by the deficiency of enzymes participated in the breakdown of the amino acid tyrosine. This leads to the collection of toxic metabolites, primarily tyrosine and its byproducts, affecting multi-systemic damage. There are three types of tyrosinemia, namely Type I (hepatorenal), Type II (oculocutaneous), and Type III (neonatal). Each type presents with distinct clinical features and requires specific diagnostic approaches and treatment strategies. This article gives an information about a comprehensive review of the pathogenesis, clinical manifestations, diagnosis, and management of tyrosinemia

Description