Recommendations for the management of tyrosinaemia type 1

Orphanet Journal of Rare Diseases

Ute Spiekerkötter²  Guillem Pintos-Morell⁶  Hélène Ogier de Baulny⁵  Lidia Monti⁸  Grant Mitchell¹  Patrick McKiernan⁴  James V Leonard⁹  Carlo Dionisi-Vici³  Corinne de Laet⁷ 

[1] Pediatrics Department, CHU Sainte-Justine, 3175 Cote St Catherine, Montreal Quebec, H3T 1C5, Canada;Ute Spiekerkoetter, Department of Pediatric and Adolescent Medicine, University Children’s Hospital, 79106, Freiburg, Germany;Division of Metabolism, Department of Pediatric Medicine, Bambino Gesù Children’s Hospital IRCCS, Rome, Italy;The Liver Unit, Birmingham Children’s Hospital, Birmingham, B4 6NH, UK;Reference Center for Inherited Metabolic Diseases, Hôpital Robert Debré, Paris, France;Department of Paediatrics, Section of Paediatric Nephrology, Genetics and Metabolism, University Hospital “Germans Trias i Pujol”, Badalona. Universitat Autònoma de Barcelona, Catalonia, Spain;Nutrition and Metabolism Unit, Department of Pediatrics, University Children’s Hospital Queen Fabiola, Brussels, Belgium;Unit of Hepatobiliary Imaging, Department of Radiology, Bambino Gesù Children’s Hospital IRCCS, Rome, Italy;UCL Institute of Child Health, 30 Guilford Street, LONDON WC1N 1EH, UK

关键词: Low tyrosine diet;    Hepatocellular carcinoma;    Acute live failure;    Cirrhosis;    Nitisinone;    Succinylacetone;    Fumarylacetoacetase;    Hepatorenal tyrosinaemia;   

Others  :  864146
DOI  :  10.1186/1750-1172-8-8

 received in 2012-10-15, accepted in 2012-12-27,  发布年份 2013

【 摘 要 】

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.

【 授权许可】

   
2013 de Laet et al.; licensee BioMed Central Ltd.

【 图 表 】

【 参考文献 】

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