Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2013 Jan 11:8:8.
doi: 10.1186/1750-1172-8-8.

Recommendations for the management of tyrosinaemia type 1

Corinne de Laet  1 , Carlo Dionisi-Vici, James V Leonard, Patrick McKiernan, Grant Mitchell, Lidia Monti, Hélène Ogier de Baulny, Guillem Pintos-Morell, Ute Spiekerkötter
Affiliations
Review

Recommendations for the management of tyrosinaemia type 1

Corinne de Laet et al. Orphanet J Rare Dis. .

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.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Tyrosine degradation pathway: HT1 is caused by a defect in the fumarylacetoacetase. Succinylacetone is a potent inhibitor of 5-aminolaevulinate dehydratase. Nitisinone inhibits 4-hydydroxyphenylpyruvate dioxygenase reducing flux through the pathway.
Figure 2
Figure 2
Outline flow diagram of the management of tyrosinaemia type 1. This figure must be used in conjunction with the accompanying text.
See this image and copyright information in PMC

References

    1. Chakrapani A, Gissen P, McKiernan P. In: Inborn Metabolic Diseases. 5. Saudubray J-M, Berghe G, Walter JH, editor. Heidelberg: Springer; 2012. Disorders of Tyrosine Metabolism; pp. 275–276. Chapter 18.
    1. 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. - PMC - PubMed
    1. 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. doi: 10.1016/0140-6736(92)92685-9. - DOI - PubMed
    1. Santra S, Baumann U. Experience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1. Expert Opin Pharmacother. 2008;9:1229–1236. doi: 10.1517/14656566.9.7.1229. - DOI - PubMed
    1. 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. - PubMed

Publication types