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Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1
Tyrosinemia type 1 (TT1) is a rare metabolic disease caused by a defect in tyrosine catabolism. TT1 is clinically characterized by acute liver failure, development of hepatocellular carcinoma, renal and neurological problems, and consequently an extremely poor outcome. This review showed that the in...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer International Publishing
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6885500/ https://www.ncbi.nlm.nih.gov/pubmed/31667718 http://dx.doi.org/10.1007/s40272-019-00364-4 |
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author | van Ginkel, Willem G. Rodenburg, Iris L. Harding, Cary O. Hollak, Carla E. M. Heiner-Fokkema, M. Rebecca van Spronsen, Francjan J. |
author_facet | van Ginkel, Willem G. Rodenburg, Iris L. Harding, Cary O. Hollak, Carla E. M. Heiner-Fokkema, M. Rebecca van Spronsen, Francjan J. |
author_sort | van Ginkel, Willem G. |
collection | PubMed |
description | Tyrosinemia type 1 (TT1) is a rare metabolic disease caused by a defect in tyrosine catabolism. TT1 is clinically characterized by acute liver failure, development of hepatocellular carcinoma, renal and neurological problems, and consequently an extremely poor outcome. This review showed that the introduction of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) in 1992 has revolutionized the outcome of TT1 patients, especially when started pre-clinically. If started early, NTBC can prevent liver failure, renal problems, and neurological attacks and decrease the risk for hepatocellular carcinoma. NTBC has been shown to be safe and well tolerated, although the long-term effectiveness of treatment with NTBC needs to be awaited. The high tyrosine concentrations caused by treatment with NTBC could result in ophthalmological and skin problems and requires life-long dietary restriction of tyrosine and its precursor phenylalanine, which could be strenuous to adhere to. In addition, neurocognitive problems have been reported since the introduction of NTBC, with hypothesized but as yet unproven pathophysiological mechanisms. Further research should be done to investigate the possible relationship between important clinical outcomes and blood concentrations of biochemical parameters such as phenylalanine, tyrosine, succinylacetone, and NTBC, and to develop clear guidelines for treatment and follow-up with reliable measurements. This all in order to ultimately improve the combined NTBC and dietary treatment and limit possible complications such as hepatocellular carcinoma development, neurocognitive problems, and impaired quality of life. |
format | Online Article Text |
id | pubmed-6885500 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Springer International Publishing |
record_format | MEDLINE/PubMed |
spelling | pubmed-68855002019-12-12 Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1 van Ginkel, Willem G. Rodenburg, Iris L. Harding, Cary O. Hollak, Carla E. M. Heiner-Fokkema, M. Rebecca van Spronsen, Francjan J. Paediatr Drugs Leading Article Tyrosinemia type 1 (TT1) is a rare metabolic disease caused by a defect in tyrosine catabolism. TT1 is clinically characterized by acute liver failure, development of hepatocellular carcinoma, renal and neurological problems, and consequently an extremely poor outcome. This review showed that the introduction of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) in 1992 has revolutionized the outcome of TT1 patients, especially when started pre-clinically. If started early, NTBC can prevent liver failure, renal problems, and neurological attacks and decrease the risk for hepatocellular carcinoma. NTBC has been shown to be safe and well tolerated, although the long-term effectiveness of treatment with NTBC needs to be awaited. The high tyrosine concentrations caused by treatment with NTBC could result in ophthalmological and skin problems and requires life-long dietary restriction of tyrosine and its precursor phenylalanine, which could be strenuous to adhere to. In addition, neurocognitive problems have been reported since the introduction of NTBC, with hypothesized but as yet unproven pathophysiological mechanisms. Further research should be done to investigate the possible relationship between important clinical outcomes and blood concentrations of biochemical parameters such as phenylalanine, tyrosine, succinylacetone, and NTBC, and to develop clear guidelines for treatment and follow-up with reliable measurements. This all in order to ultimately improve the combined NTBC and dietary treatment and limit possible complications such as hepatocellular carcinoma development, neurocognitive problems, and impaired quality of life. Springer International Publishing 2019-10-31 2019 /pmc/articles/PMC6885500/ /pubmed/31667718 http://dx.doi.org/10.1007/s40272-019-00364-4 Text en © The Author(s) 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/), which permits any noncommercial use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. |
spellingShingle | Leading Article van Ginkel, Willem G. Rodenburg, Iris L. Harding, Cary O. Hollak, Carla E. M. Heiner-Fokkema, M. Rebecca van Spronsen, Francjan J. Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1 |
title | Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1 |
title_full | Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1 |
title_fullStr | Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1 |
title_full_unstemmed | Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1 |
title_short | Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1 |
title_sort | long-term outcomes and practical considerations in the pharmacological management of tyrosinemia type 1 |
topic | Leading Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6885500/ https://www.ncbi.nlm.nih.gov/pubmed/31667718 http://dx.doi.org/10.1007/s40272-019-00364-4 |
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