Disorders of Amino-acid and protein metabolism

Proposer guidelines for thé Diagnosis and management of MMA and PA

Matthias R BaumgartnerEmail author, Friederike Hörster, Carlo Dionisi-Vici, Goknur Haliloglu, Daniela Karall, Kimberly A Chapman, Martina Huemer, Michel Hochuli, Murielle Assoun, Diana Ballhausen, Alberto Burlina, Brian Fowler, Sarah C Grünert, Stephanie Grünewald, Tomas Honzik, Begoña Merinero, Celia Pérez-Cerdá, Sabine Scholl-Bürgi, Flemming Skovby, Frits Wijburg, Anita MacDonald, Diego Martinelli, Jörn Oliver Sass, Vassili Valayannopoulos and Anupam ChakrapaniEmail author

Publication date 31.10.2017

The complete European guidelines on phenylketonuria: diagnosis and treatment

A. M. J. van Wegberg, A. MacDonald, K. Ahring, A. Bélanger-Quintana, N. Blau, A. M. Bosch, A. Burlina, J. Campistol, F. Feillet, M. Giżewska, S. C. Huijbregts, S. Kearney, V. Leuzzi, F. Maillot, A. C. Muntau, M. van Rijn, F. Trefz, J. H. Walter and F. J. van SpronsenEmail author

Publication date 31.10.2017

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 and Ute Spiekerkötter

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.
 Keywords: Hepatorenal tyrosinaemia, Fumarylacetoacetase, Succinylacetone, Nitisinone, Cirrhosis, Acute live failure, Hepatocellular carcinoma, Low tyrosine diet.

Publication date 30.04.2015