Orphanet Journal of Rare Diseases (Jan 2013)

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

DOI
https://doi.org/10.1186/1750-1172-8-8
Journal volume & issue
Vol. 8, no. 1
p. 8

Abstract

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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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