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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.

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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

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