| Tyrosinemia | |
|---|---|
 | |
| Tyrosine | |
| Specialty | Medical genetics  |
Tyrosinemia or tyrosinaemia is an error of metabolism, usually inborn, in which the body cannot effectively break down the amino acid tyrosine. Symptoms of untreated tyrosinemia include liver and kidney disturbances. Without treatment, tyrosinemia leads to liver failure.[1] Today, tyrosinemia is increasingly detected on newborn screening tests before any symptoms appear. With early and lifelong management involving a low-protein diet, special protein formula, and sometimes medication, people with tyrosinemia develop normally, are healthy, and live normal lives.[2]
- ^ Shaw K, Bachur R (2016). Fleisher & Ludwig's Textbook of Pediatric Emergency Medicine. Wolters Kluwer. ISBN 978-1451193954.
- ^ Zea-Rey AV, Cruz-Camino H, Vazquez-Cantu DL, Gutiérrez-García VM, Santos-Guzmán J, Cantú-Reyna C (Nov 2017). "The Incidence of Transient Neonatal Tyrosinemia Within a Mexican Population". Journal of Inborn Errors of Metabolism. 5 (1): 1–4. doi:10.1177/2326409817744230. Retrieved 12 March 2019.