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Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.101. Epub 2017 Aug 3.

Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.

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Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Department of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA.
The Children's Hospital of Philadelphia, Division of Human Genetics and Metabolism, Perelman School of Medicine at The University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, CA and Departments of Pediatrics and Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands.
Department of Pediatrics, Pape Family Pediatric Research Institute, Oregon Health and Science University, Portland, Oregon, USA.
CHU Sainte-Justine and Université de Montréal, Montreal, Quebec, Canada.
Metabolism Program, Boston Children's Hospital, Boston, Massachusetts, USA.
Department of Pediatrics, Division of Genetics and Metabolism, University of North Carolina, Chapel Hill, North Carolina, USA.
The Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York, USA.
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.


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 results. Newborn screening (NBS) utilizing blood succinylacetone as the NBS marker is superior to observing tyrosine levels as a way of identifying neonates with HT-1. If identified early and treated appropriately, the majority of affected infants can remain asymptomatic. A clinical management scheme is needed for infants with HT-1 identified by NBS or clinical symptoms. To this end, a group of 11 clinical practitioners, including eight biochemical genetics physicians, two metabolic dietitian nutritionists, and a clinical psychologist, from the United States and Canada, with experience in providing care for patients with HT-1, initiated an evidence- and consensus-based process to establish uniform recommendations for identification and treatment of HT-1. Recommendations were developed from a literature review, practitioner management survey, and nominal group process involving two face-to-face meetings. There was strong consensus in favor of NBS for HT-1, using blood succinylacetone as a marker, followed by diagnostic confirmation and early treatment with NTBC and diet. Consensus recommendations for both immediate and long-term clinical follow-up of positive diagnoses via both newborn screening and clinical symptomatic presentation are provided.

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