Recommendations for the management of tyrosinaemia type 1

The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been revolutionised by the introduction of nitisinone but dietary treatment remains essential and the management is not easy. In this review detailed recommendations for the management are made based on expert opinion, p...

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Detalles Bibliográficos
Autores principales: de Laet, Corinne, Dionisi-Vici, Carlo, Leonard, James V, McKiernan, Patrick, Mitchell, Grant, Monti, Lidia, de Baulny, Hélène Ogier, Pintos-Morell, Guillem, Spiekerkötter, Ute
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3558375/
https://www.ncbi.nlm.nih.gov/pubmed/23311542
http://dx.doi.org/10.1186/1750-1172-8-8
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author de Laet, Corinne
Dionisi-Vici, Carlo
Leonard, James V
McKiernan, Patrick
Mitchell, Grant
Monti, Lidia
de Baulny, Hélène Ogier
Pintos-Morell, Guillem
Spiekerkötter, Ute
author_facet de Laet, Corinne
Dionisi-Vici, Carlo
Leonard, James V
McKiernan, Patrick
Mitchell, Grant
Monti, Lidia
de Baulny, Hélène Ogier
Pintos-Morell, Guillem
Spiekerkötter, Ute
author_sort de Laet, Corinne
collection PubMed
description The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been revolutionised by the introduction of nitisinone but dietary treatment remains essential and the management is not easy. In this review detailed recommendations for the management are made based on expert opinion, published case reports and investigational studies as the evidence base is limited and there are no prospective controlled studies. The added value of this paper is that it summarises in detail current clinical knowledge about HT1 and makes recommendations for the management.
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spelling pubmed-35583752013-01-31 Recommendations for the management of tyrosinaemia type 1 de Laet, Corinne Dionisi-Vici, Carlo Leonard, James V McKiernan, Patrick Mitchell, Grant Monti, Lidia de Baulny, Hélène Ogier Pintos-Morell, Guillem Spiekerkötter, Ute Orphanet J Rare Dis Review The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been revolutionised by the introduction of nitisinone but dietary treatment remains essential and the management is not easy. In this review detailed recommendations for the management are made based on expert opinion, published case reports and investigational studies as the evidence base is limited and there are no prospective controlled studies. The added value of this paper is that it summarises in detail current clinical knowledge about HT1 and makes recommendations for the management. BioMed Central 2013-01-11 /pmc/articles/PMC3558375/ /pubmed/23311542 http://dx.doi.org/10.1186/1750-1172-8-8 Text en Copyright ©2013 de Laet et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review
de Laet, Corinne
Dionisi-Vici, Carlo
Leonard, James V
McKiernan, Patrick
Mitchell, Grant
Monti, Lidia
de Baulny, Hélène Ogier
Pintos-Morell, Guillem
Spiekerkötter, Ute
Recommendations for the management of tyrosinaemia type 1
title Recommendations for the management of tyrosinaemia type 1
title_full Recommendations for the management of tyrosinaemia type 1
title_fullStr Recommendations for the management of tyrosinaemia type 1
title_full_unstemmed Recommendations for the management of tyrosinaemia type 1
title_short Recommendations for the management of tyrosinaemia type 1
title_sort recommendations for the management of tyrosinaemia type 1
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3558375/
https://www.ncbi.nlm.nih.gov/pubmed/23311542
http://dx.doi.org/10.1186/1750-1172-8-8
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