ReviewGenetics in medicine : official journal of the American College of Medical Genetics2017
Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.
Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 99 papers, 1 of them a synthesis that pooled it.
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Who cites it
99 citing papers in PubMed, 1 synthesis or guideline pooled it, 240 citations in OpenAlex.
- Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes.Journal of inherited metabolic disease · 2025Pooled it
- Article
- Unveiling the unexpected: refractory rickets as an uncommon presentation of tyrosinemia type I.BMC pediatrics · 2026Article
- Article
- SIADH as an Underrecognized Manifestation of Porphyria-like Crises in Hereditary Tyrosinemia Type 1: Clinical and Pathophysiological Insights.International journal of molecular sciences · 2026Article
- Therapeutic Monitoring of Patients With Hereditary Tyrosinemia Type 1-A Belgian Monocentric Experience.JIMD reports · 2026Article
- Case Report: Type II tyrosinemia caused by mutations at the c.843_844 inv p.(Trp282Gly) variant locus.Frontiers in genetics · 2026Article
- In Vivo Confocal Microscopy and Anterior Segment Optical Coherence Tomography Features of Corneal Pseudodendritic Lesions in Hereditary Tyrosinemia Type 1.The American journal of case reports · 2025Article
- Untargeted Metabolomics Reveals Metabolic Reprogramming Linked to HCC Risk in Late Diagnosed Tyrosinemia Type 1.Metabolites · 2025Article
- Inborn Errors of Amino Acid Metabolism Revisited: Clinical Implications and Insights into Current Therapies.Journal of clinical medicine · 2025Review
- Synthetic closed-loop gene circuit for phenylalanine regulation.Nucleic acids research · 2025Article
- Developing an explainable machine learning model to predict false-negative citrin deficiency cases in newborn screening.Orphanet journal of rare diseases · 2025Article
- Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines.Journal of inherited metabolic disease · 2025Review
- Nitisinone desensitization protocol, case report of hereditary Tyrosinemia type 1 with successful treatment and outcomes.Orphanet journal of rare diseases · 2025Article
- Integrating Machine Learning and Follow-Up Variables to Improve Early Detection of Hepatocellular Carcinoma in Tyrosinemia Type 1: A Multicenter Study.International journal of molecular sciences · 2025Article
- Emergency Management of Intoxication-Type Inherited Metabolic Disorders.Journal of inherited metabolic disease · 2025Review
- Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countries.Journal of inherited metabolic disease · 2025Review
- New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse.Brain communications · 2025Article
- Article
- Clinical, Biochemical, and Molecular Characteristics of Filipino Patients with Tyrosinemia Type 1.International journal of neonatal screening · 2024Article
39 more citing papers are in PubMed but not listed here.
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Authors and funding
11 authors at 10 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.