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
Abstract
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.
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics (clinical),General Medicine
Reference43 articles.
1. Chakrapani A, Gissen P, McKiernan P: Disorders of Tyrosine Metabolism. Inborn Metabolic Diseases. 5th edition. Edited by: Saudubray J-M, Berghe G, Walter JH. Heidelberg: Springer; 2012:275-276. Chapter 18.
2. De Braekeleer M, Larochelle J: Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean. Am J Hum Genet. 1990, 47: 302-307.
3. Lindstedt S, Holme E, Lock EA, Hjalmarson O, Strandvik B: Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet. 1992, 340: 813-817. 10.1016/0140-6736(92)92685-9.
4. Santra S, Baumann U: Experience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1. Expert Opin Pharmacother. 2008, 9: 1229-1236. 10.1517/14656566.9.7.1229.
5. Couce ML, Aldámiz-Echevarría L, Baldellou A, Blasco J, Bueno MA, Dalmau J, De La Vega A, Del Toro M, Díaz C, Lama R, Leao E, Marrero M, Navas VM, Pintos G: Recommendations and management of type I hereditary or hepatorenal tyrosinemia. An Pediatr (Barc). 2010, 73: 279-e1-4
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