title: Recommendations for the management of tyrosinaemia type 1.
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.
authors: Nutrition and Metabolism Unit, Department of Pediatrics, University Children’s Hospital Queen Fabiola, Brussels, Belgium.
authors: Corinne
authors: C
authors: de Laet
authors: Carlo
authors: C
authors: Dionisi-Vici
authors: James V
authors: JV
authors: Leonard
authors: Patrick
authors: P
authors: McKiernan
authors: Grant
authors: G
authors: Mitchell
authors: Lidia
authors: L
authors: Monti
authors: Hélène Ogier
authors: HO
authors: de Baulny
authors: Guillem
authors: G
authors: Pintos-Morell
authors: Ute
authors: U
authors: Spiekerkötter
mesh_terms: D015519:Bone Density; D003512:Cyclohexanones / Q000627:therapeutic use; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D016031:Liver Transplantation; D015997:Neonatal Screening; D009579:Nitrobenzoates / Q000627:therapeutic use; D011247:Pregnancy; D011594:Psychometrics; D020176:Tyrosinemias / Q000175:diagnosis / Q000178:diet therapy / Q000188:drug therapy / Q000628:therapy*
chemical_list: D003512:Cyclohexanones; D009579:Nitrobenzoates; C077073:nitisinone