Bioquímica e Bioquímica Analítica

Abstrato

The Management of Tyrosinemia

Peterchris Okpala*, Sandra Okpala

Tyrosinemia is a rare autosomal recessive genetic metabolic disorder, which occurs due to the error of metabolism that affects the body’s ability to breakdown tyrosine, an amino acid. Persons experience three types of tyrosinemia, which are tyrosinemia I, tyrosinemia II, and tyrosinemia III. In the United States, the incidence of tyrosinemia I am present in one in 100,000 live births. Individuals with tyrosinemia type I experience adverse signs and symptoms, including blood stools, vomiting, failure to thrive, fatigue, poor weight gain, diarrhea, and cabbage-like odor. The study offers detailed information on evidence-based treatment and prevention methods for tyrosinemia. The research's completion is based on empirical data and evidence from peer-reviewed articles with accurate and detailed information on tyrosinemia’s pharmacological and non-pharmacological treatment methods. The study includes an analysis of psychosocial support, genetic counseling, nutritional therapy, liver transplantation, patient education, and nitisinone therapy that medical practitioners use to manage tyrosinemia appropriately. Even though the literature review has detailed information, the articles fail to provide information about the side effects of nutritional, liver transplantation, and gene therapies. Scholars should conduct more research to reveal the side effects of pharmacological and non-pharmacological treatment methods. Overall, the study encourages interprofessional healthcare workers to apply evidence-based pharmacological and non-pharmacological treatment methods in managing tyrosinemia.