Diagnosis and treatment of tyrosinemia type I

a US and Canadian consensus group review and recommendations

Jeffrey M. Chinsky, Rani Singh, Can Ficicioglu, Clara D.M. van Karnebeek, Markus Grompe, Grant Mitchell, Susan E. Waisbren, Muge Gucsavas-Calikoglu, Melissa P. Wasserstein, Katie Coakley, C. Ronald Scott

Research output: Contribution to journalReview article

14 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
JournalGenetics in medicine : official journal of the American College of Medical Genetics
Volume19
Issue number12
DOIs
StatePublished - Dec 1 2017

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Tyrosinemias
Consensus
Newborn Infant
Nutritionists
Therapeutics
Group Processes
Liver Failure
Nervous System
Canada
Tyrosine
Comorbidity
Molecular Biology
Hepatocellular Carcinoma
Patient Care
Psychology
Diet
Physicians
Kidney

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

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

In: Genetics in medicine : official journal of the American College of Medical Genetics, Vol. 19, No. 12, 01.12.2017.

Research output: Contribution to journalReview article

Chinsky, JM, Singh, R, Ficicioglu, C, van Karnebeek, CDM, Grompe, M, Mitchell, G, Waisbren, SE, Gucsavas-Calikoglu, M, Wasserstein, MP, Coakley, K & Scott, CR 2017, '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, vol. 19, no. 12. https://doi.org/10.1038/gim.2017.101
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. / Diagnosis and treatment of tyrosinemia type I : a US and Canadian consensus group review and recommendations. In: Genetics in medicine : official journal of the American College of Medical Genetics. 2017 ; Vol. 19, No. 12.
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