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Recommendations for the management of tyrosinaemia type 1

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

in Acute live failure / Age / Bone Density / Care and treatment / Cirrhosis / Cyclohexanones - therapeutic use / Defects / Disease / Female / Fumarylacetoacetase / Genetic disorders / Hepatocellular carcinoma / Hepatorenal tyrosinaemia / Hospitals / Human Genetics / Humans / Infant, Newborn / Liver cancer / Liver cirrhosis / Liver diseases / Liver Transplantation / Low tyrosine diet / Medical research / Medical screening / Medicine / Medicine & Public Health / Metabolic disorders / Metabolism / Metabolites / Neonatal Screening / Nitisinone / Nitrobenzoates - therapeutic use / Pain / Pediatrics / Pharmacology/Toxicology / Physiological aspects / Pregnancy / Psychometrics / Rare diseases / Review / Risk factors / Succinylacetone / Tyrosine / Tyrosine metabolism / Tyrosinemias - diagnosis / Tyrosinemias - diet therapy / Tyrosinemias - drug therapy / Tyrosinemias - therapy

2013

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Recommendations for the management of tyrosinaemia type 1

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

2013

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Recommendations for the management of tyrosinaemia type 1

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

2013

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Journal Article

Recommendations for the management of tyrosinaemia type 1

de Laet, Corinne,

Leonard, James V,

Mitchell, Grant,

Monti, Lidia,

Spiekerkötter, Ute,

de Baulny, Hélène Ogier,

Dionisi-Vici, Carlo,

Pintos-Morell, Guillem,

McKiernan, Patrick

2013

Overview

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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Publisher

BioMed Central,BioMed Central Ltd,Springer Nature B.V,BMC

Subject

/ Age

/ Cyclohexanones - therapeutic use

/ Defects