S Adam, M F Almeida, M Assoun, J Baruteau, S M Bernabei, S Bigot, H Champion, A Daly, M Dassy, S Dawson, M Dixon, K Dokoupil, S Dubois, C Dunlop, S Evans, F Eyskens, A Faria, E Favre, C Ferguson, C Goncalves, J Gribben, M Heddrich-Ellerbrok, C Jankowski, R Janssen-Regelink, C Jouault, C Laguerre, S Le Verge, R Link, S Lowry, K Luyten, A Macdonald, C Maritz, S McDowell, U Meyer, A Micciche, M Robert, L V Robertson, J C Rocha, C Rohde, I Saruggia, E Sjoqvist, J Stafford, A Terry, R Thom, K Vande Kerckhove, M van Rijn, A van Teeffelen-Heithoff, A van Wegberg, K van Wyk, C Vasconcelos, H Vestergaard, D Webster, F J White, J Wildgoose, H Zweers
BACKGROUND: There is no published data comparing dietary management of urea cycle disorders (UCD) in different countries. METHODS: Cross-sectional data from 41 European Inherited Metabolic Disorder (IMD) centres (17 UK, 6 France, 5 Germany, 4 Belgium, 4 Portugal, 2 Netherlands, 1 Denmark, 1 Italy, 1 Sweden) was collected by questionnaire describing management of patients with UCD on prescribed protein restricted diets. RESULTS: Data for 464 patients: N-acetylglutamate synthase (NAGS) deficiency, n=10; carbamoyl phosphate synthetase (CPS1) deficiency, n=29; ornithine transcarbamoylase (OTC) deficiency, n=214; citrullinaemia, n=108; argininosuccinic aciduria (ASA), n=80; arginase deficiency, n=23 was reported...
December 2013: Molecular Genetics and Metabolism