CGMDJM - Centro de Genética Médica Dr. Jacinto Magalhães
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Browsing CGMDJM - Centro de Genética Médica Dr. Jacinto Magalhães by Author "Ahring, K."
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- Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countriesPublication . Evers, R.A.F.; van Wegberg, A.M.J.; Ahring, K.; Beblo, S.; Bélanger-Quintana, A.; Bosch, A.M.; Burlina, A.; Campistol, J.; Coskun, T.; Feillet, F.; Giżewska, M.; Huijbregts, S.C.J.; Kearney, S.; Langeveld, M.; Leuzzi, V.; Maillot, F.; Muntau, A.C.; Rocha, J.C.; Romani, C.; Trefz, F.K.; MacDonald, A.; van Spronsen, F.J.Background: A subset of patients with phenylketonuria benefit from treatment with tetrahydrobiopterin (BH4), although there is no consensus on the definition of BH4 responsiveness. The aim of this study therefore was to gain insight into the definitions of long-term BH4 responsiveness being used around the world. Methods: We performed a web-based survey targeting healthcare professionals involved in the treatment of PKU patients. Data were analysed according to geographical region (Europe, USA/Canada, other). Results: We analysed 166 responses. Long-term BH4 responsiveness was commonly defined using natural protein tolerance (95.6%), improvement of metabolic control (73.5%) and increase in quality of life (48.2%). When a specific value for a reduction in phenylalanine concentrations was reported (n = 89), 30% and 20% were most frequently used as cut-off values (76% and 19% of respondents, respectively). When a specific relative increase in natural protein tolerance was used to define long-term BH4 responsiveness (n = 71), respondents most commonly reported cut-off values of 30% and 100% (28% of respondents in both cases). Respondents from USA/Canada (n = 50) generally used less strict cut-off values compared to Europe (n = 96). Furthermore, respondents working within the same center answered differently. Conclusion: The results of this study suggest a very heterogeneous situation on the topic of defining long-term BH4 responsiveness, not only at a worldwide level but also within centers. Developing a strong evidence- and consensus-based definition would improve the quality of BH4 treatment.
- Special low protein foods for phenylketonuria: availability in Europe and an examination of their nutritional profilePublication . Pena, M.; Almeida, M.; van Dam, E.; Ahring, K.; Bélanger-Quintana, A.; Dokoupil, K.; Gokmen-Ozel, H.; Lammardo, A.; MacDonald, A.; Robert, M.; Rocha, J.Background Special low protein foods (SLPF) are essential in the nutritional management of patients with phenylketonuria (PKU). The study objectives were to: 1) identify the number of SLPF available for use in eight European countries and Turkey and 2) analyse the nutritional composition of SLPF available in one of these countries. Methods European Nutritionist Expert Panel on PKU (ENEP) members (Portugal, Spain, Belgium, Italy, Germany, Netherlands, UK, Denmark and Turkey) provided data on SPLF available in each country. The nutritional composition of Portuguese SLPF was compared with regular food products. Results The number of different SLPF available in each country varied widely with a median of 107 [ranging from 73 (Portugal) and 256 (Italy)]. Food analysis of SLPF available from a single country (Portugal) indicated that the mean phenylalanine content was higher in low protein baby cereals (mean 48 mg/100 g) and chocolate/energy bars/jelly (mean 41 mg/100 g). The energy content of different foods from a sub-group of SLPF (cookies) varied widely between 23 and 96 kcal/cookie. Low protein bread had a high fat content [mean 5.8 g/100 g (range 3.7 to 10)] compared with 1.6 g/100 g in regular bread. Seven of the 12 SLPF sub-groups (58 %) did not declare any vitamin content, and only 4 (33 %) identified a limited number of minerals. Conclusions Whilst equal and free access to all SLPF is desirable, the widely variable nutritional composition requires careful nutritional knowledge of all products when prescribed for individual patients with PKU. There is a need for more specific nutritional standards for special low protein foods.