Abstract

Doc number: 8

Abstract: 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.

Details

Title
Recommendations for the management of tyrosinaemia type 1
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
Pages
8
Publication year
2013
Publication date
2013
Publisher
BioMed Central
e-ISSN
17501172
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1186/1750-1172-8-8
ProQuest document ID
1282300165
Copyright
© 2013 de Laet et al.; licensee BioMed Central Ltd. 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.