Article
Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2017
Chinsky Jeffrey M, Singh Rani, Ficicioglu Can, van Karnebeek Clara D M, Grompe Markus, Mitchell Grant, Waisbren Susan E, Gucsavas-Calikoglu Muge, Wasserstein Melissa P, Coakley Katie, Scott C Ronald
Abstract excerpt
Tyrosinemia type I (hepatorenal tyrosinemia, HT-1) is an autosomal recessive condition resulting in hepatic failure with comorbidities involving the renal and neurologic systems and long term risks for hepatocellular carcinoma. An effective medical treatment with 2-[2-nitro-4-trifluoromethylbenzoyl]-1,3-cyclohexanedione (NTBC) exists but requires early identification of affected children for optimal long-term...
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