Recommendations for the management of tyrosinaemia type 1.

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

Journal: Orphanet journal of rare diseases 2013;8():8

PMID: 23311542

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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.

Address: Nutrition and Metabolism Unit, Department of Pediatrics, University Children’s Hospital Queen Fabiola, Brussels, Belgium.

DOI: 10.1186/1750-1172-8-8

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MeSH Terms: Bone Density, Cyclohexanones, Female, Humans, Infant, Newborn, Liver Transplantation, Neonatal Screening, Nitrobenzoates, Pregnancy, Psychometrics, Tyrosinemias