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1. Weaning practices in phenylketonuria vary between health professionals in Europe

Author

Pinto, A., Adams, S., Ahring, K., Allen, H., Almeida, M.F., Garcia-Arenas, D., Arslan, N., Assoun, M., Atik Altınok, Y., Barrio-Carreras, D., Belanger Quintana, A., Bernabei, S.M., Bontemps, C., Boyle, F., Bruni, G., Bueno-Delgado, M., Caine, G., Carvalho, R., Chrobot, A., Chyż, K., Cochrane, B., Correia, Carla, Corthouts, K., Daly, A., De Leo, S., Desloovere, A., De Meyer, A., De Theux, A., Didycz, B., Dijsselhof, M.E., Dokoupil, K., Drabik, J., Dunlop, C., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, A., Fokkema, L., François, L., French, M., Forssell, E., Gingell, C., Gonçalves, C., Gökmen Özel, H., Grimsley, A., Gugelmo, G., Gyüre, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jörg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Koç, N., Kok, I.L., Kozanoğlu, T., Kumru, B., Lang, F., Lang, K., Liegeois, I., Liguori, A., Lilje, R., Ļubina, O., Manta-Vogli, P., Mayr, D., Meneses, C., Newby, C., Meyer, U., Mexia, S., Nicol, C., Och, U., Olivas, S.M., Pedrón-Giner, C., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Re Dionigi, A., Reinson, K., Robert, M., Robertson, L., Rocha, J.C., Rohde, C., Rosenbaum-Fabian, S., Rossi, A., Ruiz, M., Saligova, J., Gutiérrez-Sánchez, A., Schlune, A., Schulpis, K., Serrano-Nieto, J., Skarpalezou, A., Skeath, R., Slabbert, A., Straczek, K., Giżewska, M., Terry, A., Thom, R., Tooke, A., Tuokkola, J., van Dam, E., van den Hurk, T.A.M., van der Ploeg, E.M.C., Vande Kerckhove, K., Van Driessche, M., van Wegberg, A.M.J., van Wyk, K., Vasconcelos, C., Velez García, V., Wildgoose, J., Winkler, T., Żółkowska, J., Zuvadelli, J., and MacDonald, A.

Published
2019
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2. Early feeding practices in infants with phenylketonuria across Europe

Author

Pinto, A., Adams, S., Ahring, K., Allen, H., Almeida, M.F., Garcia-Arenas, D., Arslan, N., Assoun, M., Atik Altınok, Y., Barrio-Carreras, D., Belanger Quintana, A., Bernabei, S.M., Bontemps, C., Boyle, F., Bruni, G., Bueno-Delgado, M., Caine, G., Carvalho, R., Chrobot, A., Chyż, K., Cochrane, B., Correia, C., Corthouts, K., Daly, A., De Leo, S., Desloovere, A., De Meyer, A., De Theux, A., Didycz, B., Dijsselhof, M.E., Dokoupil, K., Drabik, J., Dunlop, C., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, A., Fokkema, L., François, L., French, M., Forssell, E., Gingell, C., Gonçalves, C., Gökmen Özel, H., Grimsley, A., Gugelmo, G., Gyüre, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jörg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Koç, N., Kok, I.L., Kozanoğlu, T., Kumru, B., Lang, F., Lang, K., Liegeois, I., Liguori, A., Lilje, R., Ļubina, O., Manta-Vogli, P., Mayr, D., Meneses, C., Newby, C., Meyer, U., Mexia, S., Nicol, C., Och, U., Olivas, S.M., Pedrón-Giner, C., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Re Dionigi, A., Reinson, K., Robert, M., Robertson, L., Rocha, J.C., Rohde, C., Rosenbaum-Fabian, S., Rossi, A., Ruiz, M., Saligova, J., Gutiérrez-Sánchez, A., Schlune, A., Schulpis, K., Serrano-Nieto, J., Skarpalezou, A., Skeath, R., Slabbert, A., Straczek, K., Giżewska, M., Terry, A., Thom, R., Tooke, A., Tuokkola, J., van Dam, E., van den Hurk, T.A.M., van der Ploeg, E.M.C., Vande Kerckhove, K., Van Driessche, M., van Wegberg, A.M.J., van Wyk, K., Vasconcelos, C., Velez García, V., Wildgoose, J., Winkler, T., Żółkowska, J., Zuvadelli, J., and MacDonald, A.

Published
2018
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3. How strict is galactose restriction in adults with galactosaemia? International practice

Author

Adam, S., Akroyd, R., Bernabei, S., Bollhalder, S., Boocock, S., Burlina, A., Coote, T., Corthouts, K., Dalmau, J., Dawson, S., Defourny, S., De Meyer, A., Desloovere, A., Devlin, Y., Diels, M., Dokoupil, K., Donald, S., Evans, S., Fasan, I., Ferguson, C., Ford, S., Forga, M., Gallo, G., Grünert, S.C., Heddrich-Ellerbrok, M., Heidenborg, C., Jonkers, C., Lefebure, K., Luyten, K., MacDonald, A., Meyer, U., Micciche, A., Müller, E., Portnoi, P., Ripley, S., Robert, M., Robertson, L.V., Rosenbaum-Fabian, S., Sahm, K., Schultz, S., Singleton, K., Sjöqvist, E., Stoelen, L., Terry, A., Thompson, S., Timmer, C., Vande Kerckhove, K., van der Ploeg, L., Van Driessche, M., van Rijn, M., van Teeffelen-Heithoff, A., Vitoria, I., Voillot, C., Wenz, J., Westbrook, M., Wildgoose, J., and Zweers, H.

Published
2015
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4. Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach

Author

Aguiar, A., Ahring, K., Almeida, M.F., Assoun, M., Belanger Quintana, A., Bigot, S., Bihet, G., Blom Malmberg, K., Burlina, A., Bushueva, T., Caris, A., Chan, H., Clark, A., Clark, S., Cochrane, B., Corthouts, K., Dalmau, J., Dassy, M., De Meyer, A., Didycz, B., Diels, M., Dokupil, K., Dubois, S., Eftring, K., Ekengren, J., Ellerton, C., Evans, S., Faria, A., Fischer, A., Ford, S., Freisinger, P., Giżewska, M., Gokmen-Ozel, H., Gribben, J., Gunden, F., Heddrich-Ellerbrok, M., Heiber, S., Heidenborg, C., Jankowski, C., Janssen-Regelink, R., Jones, I., Jonkers, C., Joerg-Streller, M., Kaalund-Hansen, K., Kiss, E., Lammardo, A.M., Lang, K., Lier, D., Lilje, R., Lowry, S., Luyten, K., MacDonald, A., Meyer, U., Moor, D., Pal, A., Robert, M., Robertson, L., Rocha, J.C., Rohde, C., Ross, K., Saruhan, S., Sjöqvist, E., Skeath, R., Stoelen, L., Ter Horst, N.M., Terry, A., Timmer, C., Tuncer, N., Vande Kerckhove, K., van der Ploeg, L., van Rijn, M., van Spronsen, F.J., van Teeffelen-Heithoff, A., van Wegberg, A., van Wyk, K., Vasconcelos, C., Vitoria, I., Wildgoose, J., Webster, D., White, F.J., and Zweers, H.

Published
2015
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6. Dietary practices in methylmalonic acidaemia: a European survey

Author

Pinto, A., Evans, S., Daly, A., Almeida, M.F., Assoun, M., Belanger-Quintana, A., Bernabei, S.M., Bollhalder, S., Cassiman, D., Champion, H., Chan, H., Corthouts, K., Dalmau, J., Boer, F. de, Laet, C. de, Meyer, A, Desloovere, A., Dianin, A., Dixon, M., Dokoupil, K., Dubois, S., Eyskens, F., Faria, A., Fasan, I., Favre, E., Feillet, F., Fekete, A., Gallo, G., Gingell, C., Gribben, J., Hansen, K.K., Horst, N.T., Jankowski, C., Janssen-Regelink, R.G., Jones, I., Jouault, C., Kahrs, G.E., Kok, I., Kowalik, A., Laguerre, C., Verge, S.L., Liguori, A., Lilje, R., Maddalon, C., Mayr, D., Meyer, U., Micciche, A., Och, U., Robert, M., Rocha, J.C., Rogozinski, H., Rohde, C., Ross, K., Saruggia, I., Schlune, A., Singleton, K., Sjoqvist, E., Skeath, R., Stolen, L.H., Terry, A., Timmer, C., Tomlinson, L., Tooke, A., Kerckhove, K.V., Dam, E. van, Hurk, D.V.D., Ploeg, L.V., Driessche, M. Van, Rijn, M. van de, Wegberg, A.M. van, Vasconcelos, C., Vestergaard, H., Vitoria, I., Webster, D., White, F., White, L., Zweers, H.E., MacDonald, A., Pinto, A., Evans, S., Daly, A., Almeida, M.F., Assoun, M., Belanger-Quintana, A., Bernabei, S.M., Bollhalder, S., Cassiman, D., Champion, H., Chan, H., Corthouts, K., Dalmau, J., Boer, F. de, Laet, C. de, Meyer, A, Desloovere, A., Dianin, A., Dixon, M., Dokoupil, K., Dubois, S., Eyskens, F., Faria, A., Fasan, I., Favre, E., Feillet, F., Fekete, A., Gallo, G., Gingell, C., Gribben, J., Hansen, K.K., Horst, N.T., Jankowski, C., Janssen-Regelink, R.G., Jones, I., Jouault, C., Kahrs, G.E., Kok, I., Kowalik, A., Laguerre, C., Verge, S.L., Liguori, A., Lilje, R., Maddalon, C., Mayr, D., Meyer, U., Micciche, A., Och, U., Robert, M., Rocha, J.C., Rogozinski, H., Rohde, C., Ross, K., Saruggia, I., Schlune, A., Singleton, K., Sjoqvist, E., Skeath, R., Stolen, L.H., Terry, A., Timmer, C., Tomlinson, L., Tooke, A., Kerckhove, K.V., Dam, E. van, Hurk, D.V.D., Ploeg, L.V., Driessche, M. Van, Rijn, M. van de, Wegberg, A.M. van, Vasconcelos, C., Vestergaard, H., Vitoria, I., Webster, D., White, F., White, L., Zweers, H.E., and MacDonald, A.

Abstract

Contains fulltext : 220058.pdf (Publisher’s version ) (Open Access), Background The dietary management of methylmalonic acidaemia (MMA) is a low-protein diet providing sufficient energy to avoid catabolism and to limit production of methylmalonic acid. The goal is to achieve normal growth, good nutritional status and the maintenance of metabolic stability. Aim To describe the dietary management of patients with MMA across Europe. Methods A cross-sectional questionnaire was sent to European colleagues managing inherited metabolic disorders (IMDs) (n=53) with 27 questions about the nutritional management of organic acidaemias. Data were analysed by different age ranges (0-6 months; 7-12 months; 1-10 years; 11-16 years; >16 years). Results Questionnaires were returned from 53 centres. Twenty-five centres cared for 80 patients with MMA vitamin B12 responsive (MMAB12r) and 43 centres managed 215 patients with MMA vitamin B12 non-responsive (MMAB12nr). For MMAB12r patients, 44% of centres (n=11/25) prescribed natural protein below the World Health Organization/Food and Agriculture Organization/United Nations University (WHO/FAO/UNU) 2007 safe levels of protein intake in at least one age range. Precursor-free amino acids (PFAA) were prescribed by 40% of centres (10/25) caring for 36% (29/80) of all the patients. For MMAB12nr patients, 72% of centres (n=31/43) prescribed natural protein below the safe levels of protein intake (WHO/FAO/UNU 2007) in at least one age range. PFAA were prescribed by 77% of centres (n=33/43) managing 81% (n=174/215) of patients. In MMAB12nr patients, 90 (42%) required tube feeding: 25 via a nasogastric tube and 65 via a gastrostomy. Conclusions A high percentage of centres used PFAA in MMA patients together with a protein prescription that provided less than the safe levels of natural protein intake. However, there was inconsistent practices across Europe. Long-term efficacy studies are needed to study patient outcome when using PFAA with different severities of natural protein restrictions in patients with MMA to

Published
2020

7. Weaning practices in phenylketonuria vary between health professionals in Europe.

Author

UCL - (SLuc) Service d'endocrinologie et de nutrition, Pinto, A, Adams, S, Ahring, K, Allen, H, Almeida, M F, Garcia-Arenas, D, Arslan, N, Assoun, M, Atik Altınok, Y, Barrio-Carreras, D, Belanger Quintana, A, Bernabei, S M, Bontemps, C, Boyle, F, Bruni, G, Bueno-Delgado, M, Caine, G, Carvalho, R, Chrobot, A, Chyż, K, Cochrane, B, Correia, C, Corthouts, K, Daly, A, De Leo, S, Desloovere, A, De Meyer, A, De Theux, A, Didycz, B, Dijsselhof, M E, Dokoupil, K, Drabik, J, Dunlop, C, Eberle-Pelloth, W, Eftring, K, Ekengren, J, Errekalde, I, Evans, S, Foucart, Audrey, Fokkema, L, François, L, French, M, Forssell, E, Gingell, C, Gonçalves, C, Gökmen Özel, H, Grimsley, A, Gugelmo, G, Gyüre, E, Heller, C, Hensler, R, Jardim, I, Joost, C, Jörg-Streller, M, Jouault, C, Jung, A, Kanthe, M, Koç, N, Kok, I L, Kozanoğlu, T, Kumru, B, Lang, F, Lang, K, Liegeois, I, Liguori, A, Lilje, R, Ļubina, O, Manta-Vogli, P, Mayr, D, Meneses, C, Newby, C, Meyer, U, Mexia, S, Nicol, C, Och, U, Olivas, S M, Pedrón-Giner, C, Pereira, R, Plutowska-Hoffmann, K, Purves, J, Re Dionigi, A, Reinson, K, Robert, M, Robertson, L, Rocha, J C, Rohde, C, Rosenbaum-Fabian, S, Rossi, A, Ruiz, M, Saligova, J, Gutiérrez-Sánchez, A, Schlune, A, Schulpis, K, Serrano-Nieto, J, Skarpalezou, A, Skeath, R, Slabbert, A, Straczek, K, Giżewska, M, Terry, A, Thom, R, Tooke, A, Tuokkola, J, van Dam, E, van den Hurk, T A M, van der Ploeg, E M C, Vande Kerckhove, K, Van Driessche, M, van Wegberg, A M J, van Wyk, K, Vasconcelos, C, Velez García, V, Wildgoose, J, Winkler, T, Żółkowska, J, Zuvadelli, J, MacDonald, A, UCL - (SLuc) Service d'endocrinologie et de nutrition, Pinto, A, Adams, S, Ahring, K, Allen, H, Almeida, M F, Garcia-Arenas, D, Arslan, N, Assoun, M, Atik Altınok, Y, Barrio-Carreras, D, Belanger Quintana, A, Bernabei, S M, Bontemps, C, Boyle, F, Bruni, G, Bueno-Delgado, M, Caine, G, Carvalho, R, Chrobot, A, Chyż, K, Cochrane, B, Correia, C, Corthouts, K, Daly, A, De Leo, S, Desloovere, A, De Meyer, A, De Theux, A, Didycz, B, Dijsselhof, M E, Dokoupil, K, Drabik, J, Dunlop, C, Eberle-Pelloth, W, Eftring, K, Ekengren, J, Errekalde, I, Evans, S, Foucart, Audrey, Fokkema, L, François, L, French, M, Forssell, E, Gingell, C, Gonçalves, C, Gökmen Özel, H, Grimsley, A, Gugelmo, G, Gyüre, E, Heller, C, Hensler, R, Jardim, I, Joost, C, Jörg-Streller, M, Jouault, C, Jung, A, Kanthe, M, Koç, N, Kok, I L, Kozanoğlu, T, Kumru, B, Lang, F, Lang, K, Liegeois, I, Liguori, A, Lilje, R, Ļubina, O, Manta-Vogli, P, Mayr, D, Meneses, C, Newby, C, Meyer, U, Mexia, S, Nicol, C, Och, U, Olivas, S M, Pedrón-Giner, C, Pereira, R, Plutowska-Hoffmann, K, Purves, J, Re Dionigi, A, Reinson, K, Robert, M, Robertson, L, Rocha, J C, Rohde, C, Rosenbaum-Fabian, S, Rossi, A, Ruiz, M, Saligova, J, Gutiérrez-Sánchez, A, Schlune, A, Schulpis, K, Serrano-Nieto, J, Skarpalezou, A, Skeath, R, Slabbert, A, Straczek, K, Giżewska, M, Terry, A, Thom, R, Tooke, A, Tuokkola, J, van Dam, E, van den Hurk, T A M, van der Ploeg, E M C, Vande Kerckhove, K, Van Driessche, M, van Wegberg, A M J, van Wyk, K, Vasconcelos, C, Velez García, V, Wildgoose, J, Winkler, T, Żółkowska, J, Zuvadelli, J, and MacDonald, A

Abstract

BACKGROUND: In phenylketonuria (PKU), weaning is considered more challenging when compared to feeding healthy infants. The primary aim of weaning is to gradually replace natural protein from breast milk or standard infant formula with solids containing equivalent phenylalanine (Phe). In addition, a Phe-free second stage L-amino acid supplement is usually recommended from around 6 months to replace Phe-free infant formula. Our aim was to assess different weaning approaches used by health professionals across Europe. METHODS: A cross sectional questionnaire (survey monkey®) composed of 31 multiple and single choice questions was sent to European colleagues caring for inherited metabolic disorders (IMD). Centres were grouped into geographical regions for analysis. RESULTS: Weaning started at 17-26 weeks in 85% (n = 81/95) of centres, >26 weeks in 12% (n = 11/95) and < 17 weeks in 3% (n = 3/95). Infant's showing an interest in solid foods, and their age, were important determinant factors influencing weaning commencement. 51% (n = 48/95) of centres introduced Phe containing foods at 17-26 weeks and 48% (n = 46/95) at >26 weeks. First solids were mainly low Phe vegetables (59%, n = 56/95) and fruit (34%, n = 32/95).A Phe exchange system to allocate dietary Phe was used by 52% (n = 49/95) of centres predominantly from Northern and Southern Europe and 48% (n = 46/95) calculated most Phe containing food sources (all centres in Eastern Europe and the majority from Germany and Austria). Some centres used a combination of both methods.A second stage Phe-free L-amino acid supplement containing a higher protein equivalent was introduced by 41% (n = 39/95) of centres at infant age 26-36 weeks (mainly from Germany, Austria, Northern and Eastern Europe) and 37% (n = 35/95) at infant age > 1y mainly from Southern Europe. 53% (n = 50/95) of centres recommended a second stage Phe-free L-amino acid supplement in a spoonable or semi-solid form. CONCLUSIONS: Weaning strategies vary throu

Published
2019

8. Early feeding practices in infants with phenylketonuria across Europe

Author

Afdeling Dietetiek, Other research (not in main researchprogram), Pinto, A., Adams, S., Ahring, K., Allen, H., Almeida, M. F., Garcia-Arenas, D., Arslan, N., Assoun, M., Atik Altınok, Y., Barrio-Carreras, D., Belanger Quintana, A., Bernabei, S. M., Bontemps, C., Boyle, F., Bruni, G., Bueno-Delgado, M., Caine, G., Carvalho, R., Chrobot, A., Chyż, K., Cochrane, B., Correia, C., Corthouts, K., Daly, A., De Leo, S., Desloovere, A., De Meyer, A., De Theux, A., Didycz, B., Dijsselhof, M. E., Dokoupil, K., Drabik, J., Dunlop, C., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, A., Fokkema, L., François, L., French, M., Forssell, E., Gingell, C., Gonçalves, C., Gökmen Özel, H., Grimsley, A., Gugelmo, G., Gyüre, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jörg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Koç, N., Kok, I. L., Kozanoğlu, T., Kumru, B., Lang, F., Lang, K., Liegeois, I., Liguori, A., Lilje, R., Ļubina, O., Manta-Vogli, P., Mayr, D., Meneses, C., Newby, C., Meyer, U., Mexia, S., Nicol, C., Och, U., Olivas, S. M., Pedrón-Giner, C., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Re Dionigi, A., Reinson, K., Robert, M., Robertson, L., Rocha, J. C., Rohde, C., Rosenbaum-Fabian, S., Rossi, A., Ruiz, M., Saligova, J., Gutiérrez-Sánchez, A., Schlune, A., Schulpis, K., Serrano-Nieto, J., Skarpalezou, A., Skeath, R., Slabbert, A., Straczek, K., Giżewska, M., Terry, A., Thom, R., Tooke, A., Tuokkola, J., van Dam, E., van den Hurk, T. A.M., van der Ploeg, E. M.C., Vande Kerckhove, K., Van Driessche, M., van Wegberg, A. M.J., van Wyk, K., Vasconcelos, C., Velez García, V., Wildgoose, J., Winkler, T., Żółkowska, J., Zuvadelli, J., MacDonald, A., Afdeling Dietetiek, Other research (not in main researchprogram), Pinto, A., Adams, S., Ahring, K., Allen, H., Almeida, M. F., Garcia-Arenas, D., Arslan, N., Assoun, M., Atik Altınok, Y., Barrio-Carreras, D., Belanger Quintana, A., Bernabei, S. M., Bontemps, C., Boyle, F., Bruni, G., Bueno-Delgado, M., Caine, G., Carvalho, R., Chrobot, A., Chyż, K., Cochrane, B., Correia, C., Corthouts, K., Daly, A., De Leo, S., Desloovere, A., De Meyer, A., De Theux, A., Didycz, B., Dijsselhof, M. E., Dokoupil, K., Drabik, J., Dunlop, C., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, A., Fokkema, L., François, L., French, M., Forssell, E., Gingell, C., Gonçalves, C., Gökmen Özel, H., Grimsley, A., Gugelmo, G., Gyüre, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jörg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Koç, N., Kok, I. L., Kozanoğlu, T., Kumru, B., Lang, F., Lang, K., Liegeois, I., Liguori, A., Lilje, R., Ļubina, O., Manta-Vogli, P., Mayr, D., Meneses, C., Newby, C., Meyer, U., Mexia, S., Nicol, C., Och, U., Olivas, S. M., Pedrón-Giner, C., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Re Dionigi, A., Reinson, K., Robert, M., Robertson, L., Rocha, J. C., Rohde, C., Rosenbaum-Fabian, S., Rossi, A., Ruiz, M., Saligova, J., Gutiérrez-Sánchez, A., Schlune, A., Schulpis, K., Serrano-Nieto, J., Skarpalezou, A., Skeath, R., Slabbert, A., Straczek, K., Giżewska, M., Terry, A., Thom, R., Tooke, A., Tuokkola, J., van Dam, E., van den Hurk, T. A.M., van der Ploeg, E. M.C., Vande Kerckhove, K., Van Driessche, M., van Wegberg, A. M.J., van Wyk, K., Vasconcelos, C., Velez García, V., Wildgoose, J., Winkler, T., Żółkowska, J., Zuvadelli, J., and MacDonald, A.

Published
2018

9. Autism in patients with propionic acidemia

Author

Witters, P., Debbold, E., Crivelly, K., Kerckhove, K. Vande, Corthouts, K., Debbold, B., Andersson, H., Vannieuwenborg, L., Geuens, S., Baumgartner, M., Kozicz, L.T., Settles, L., Morava, E., Witters, P., Debbold, E., Crivelly, K., Kerckhove, K. Vande, Corthouts, K., Debbold, B., Andersson, H., Vannieuwenborg, L., Geuens, S., Baumgartner, M., Kozicz, L.T., Settles, L., and Morava, E.

Abstract

Contains fulltext : 168315.pdf (publisher's version ) (Closed access), Certain inborn errors of metabolism have been suggested to increase the risk of autistic behavior. In an animal model, propionic acid ingestion triggered abnormal behavior resembling autism. So far only a few cases were reported with propionic acidemia and autistic features. From a series of twelve consecutively diagnosed cases with propionic acidemia, we report on eight patients with autistic features. The patients were followed 2-4 times a year and underwent regular clinical, dietary and laboratory investigations. Psychological evaluation was performed every second to fourth year. All patients were compliant with the standard diet and carnitine supplementation. None of the patients had frequent metabolic decompensations. From the metabolic factors known to impact neuropsychological outcome we detected chronically decreased valine levels and altered valine to leucine ratios in five out of the eight patients. Recurrent lactic acid elevations were present in six out of the eight patients. Five of the eight patients were diagnosed with Autism Spectrum Disorder, four of them had pathogenic variants in PCCB. Disorder according to DSM-IV and/or DSM-5 criteria. One of the patients diagnosed with propionic acidemia by newborn screening had the most significant behavioral features and another was diagnosed with Autism Spectrum Disorder prior to propionic acidemia. We hypothesize that chronic suboptimal intracellular metabolic balance may be responsible for the increased risk for autistic features in propionic acidemia. We propose that patients diagnosed with propionic acidemia should be screened for Autism Spectrum Disorder.

Published
2016

10. How strict is galactose restriction in adults with galactosaemia? International practice

Author

Adam, Siddig Momin, Akroyd, R., Bernabei, S., Bollhalder, S., Boocock, S., Burlina, A., Coote, T., Corthouts, K., Dalmau, Judith, Dawson, S., Defourny, S., Meyer, A., Desloovere, A., Devlin, Y., Diels, M., Dokoupil, K., Donald, S., Evans, S., Fasan, I., Ferguson, C., Ford, S., Forga, M., Gallo, G., Grünert, S.C., Heddrich-Ellerbrok, M., Heidenborg, C., Jonkers, C.F., Lefebure, K., Luyten, K., MacDonald, A., Meyer, U., Micciche, A., Müller, E., Portnoi, P., Ripley, S., Robert, C.M., Robertson, L.V., Rosenbaum-Fabian, S., Sahm, K., Schultz, Erica S, Singleton, K., Sjöqvist, E., Stoelen, L., Terry, A., Thompson, S., Timmer, C., Vande Kerckhove, K., van den Ploeg, L., Van Driessche, M., van Rijn, M., van Teeffelen-Heithoff, A., Vitoria, I., Voillot, C., Wenz, J., Westbrook, M., Wildgoose, J., Zweers, H., Adam, Siddig Momin, Akroyd, R., Bernabei, S., Bollhalder, S., Boocock, S., Burlina, A., Coote, T., Corthouts, K., Dalmau, Judith, Dawson, S., Defourny, S., Meyer, A., Desloovere, A., Devlin, Y., Diels, M., Dokoupil, K., Donald, S., Evans, S., Fasan, I., Ferguson, C., Ford, S., Forga, M., Gallo, G., Grünert, S.C., Heddrich-Ellerbrok, M., Heidenborg, C., Jonkers, C.F., Lefebure, K., Luyten, K., MacDonald, A., Meyer, U., Micciche, A., Müller, E., Portnoi, P., Ripley, S., Robert, C.M., Robertson, L.V., Rosenbaum-Fabian, S., Sahm, K., Schultz, Erica S, Singleton, K., Sjöqvist, E., Stoelen, L., Terry, A., Thompson, S., Timmer, C., Vande Kerckhove, K., van den Ploeg, L., Van Driessche, M., van Rijn, M., van Teeffelen-Heithoff, A., Vitoria, I., Voillot, C., Wenz, J., Westbrook, M., Wildgoose, J., and Zweers, H.

Published
2015

11. Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach

Author

UCL - (SLuc) Service d'endocrinologie et de nutrition, Aguiar, A., Ahring, K., Almeida, M.F., Assoun, M., Belanger Quintana, A., Bigot, S., Bihet, G., Blom Malmberg, K., Burlina, A., Bushueva, T., Caris, A., Chan, H., Clark, A., Clark, S., Cochrane, B., Corthouts, K., Dalmau, J., Dassy, Martine, De Meyer, A., Didycz, B., Diels, M., Dokupil, K., Dubois, S., Eftring, K., Ekengren, J., Ellerton, C., Evans, S., Faria, A., Fischer, A., Ford, S., Freisinger, P., Gizewska, M., Gokmen-Ozel, H., Gribben, J., Gunden, F., Heddrich-Ellerbrok, M., Heiber, S., Heidenborg, C., Jankowski, C., Janssen-Regelink, R., Jones, I., Jonkers, C., Joerg-Streller, M., Kaalund-Hansen, K., Kiss, E., Lammardo, A.M., Lang, K., Lier, D., Lilje, R., Lowry, S., Luyten, K., MacDonald, A., Meyer, U., Moor, D., Pal, A., Robert, M., Robertson, L., Rocha, J.C., Rohde, C., Ross, K., Saruhan, S., Sjöqvist, E., Skeath, R., Stoelen, L., Ter Horst, N.M., Terry, A., Timmer, C., Tuncer, N., Vande Kerckhove, K., van der Ploeg, L., van Rijn, M., van Spronsen, F.J., van Teeffelen-Heithoff, A., van Wegberg, A., van Wyk, K., Vasconcelos, C., Vitoria, I., Wildgoose, J., Webster, D., White, F.J., Zweers, H., UCL - (SLuc) Service d'endocrinologie et de nutrition, Aguiar, A., Ahring, K., Almeida, M.F., Assoun, M., Belanger Quintana, A., Bigot, S., Bihet, G., Blom Malmberg, K., Burlina, A., Bushueva, T., Caris, A., Chan, H., Clark, A., Clark, S., Cochrane, B., Corthouts, K., Dalmau, J., Dassy, Martine, De Meyer, A., Didycz, B., Diels, M., Dokupil, K., Dubois, S., Eftring, K., Ekengren, J., Ellerton, C., Evans, S., Faria, A., Fischer, A., Ford, S., Freisinger, P., Gizewska, M., Gokmen-Ozel, H., Gribben, J., Gunden, F., Heddrich-Ellerbrok, M., Heiber, S., Heidenborg, C., Jankowski, C., Janssen-Regelink, R., Jones, I., Jonkers, C., Joerg-Streller, M., Kaalund-Hansen, K., Kiss, E., Lammardo, A.M., Lang, K., Lier, D., Lilje, R., Lowry, S., Luyten, K., MacDonald, A., Meyer, U., Moor, D., Pal, A., Robert, M., Robertson, L., Rocha, J.C., Rohde, C., Ross, K., Saruhan, S., Sjöqvist, E., Skeath, R., Stoelen, L., Ter Horst, N.M., Terry, A., Timmer, C., Tuncer, N., Vande Kerckhove, K., van der Ploeg, L., van Rijn, M., van Spronsen, F.J., van Teeffelen-Heithoff, A., van Wegberg, A., van Wyk, K., Vasconcelos, C., Vitoria, I., Wildgoose, J., Webster, D., White, F.J., and Zweers, H.

Abstract

Background: There appears little consensus concerning protein requirements in phenylketonuria (PKU). Methods: A questionnaire completed by 63 European and Turkish IMD centres from 18 countries collected data on prescribed total protein intake (natural/intact protein and phenylalanine-free protein substitute [PS]) by age, administration frequency and method, monitoring, and type of protein substitute. Data were analysed by European region using descriptive statistics. Results: The amount of total protein (from PS and natural/intact protein) varied according to the European region. Higher median amounts of total protein were prescribed in infants and children in Northern Europe (n. =. 24 centres) (infants <. 1. year, >. 2-3. g/kg/day; 1-3. years of age, >. 2-3. g/kg/day; 4-10. years of age, >. 1.5-2.5. g/kg/day) and Southern Europe (n. =. 10 centres) (infants <. 1. year, 2.5. g/kg/day, 1-3. years of age, 2. g/kg/day; 4-10. years of age, 1.5-2. g/kg/day), than by Eastern Europe (n. =. 4 centres) (infants <. 1. year, 2.5. g/kg/day, 1-3. years of age, >. 2-2.5. g/kg/day; 4-10. years of age, >. 1.5-2. g/kg/day) and with Western Europe (n. =. 25 centres) giving the least (infants <. 1. year, >. 2-2.5. g/kg/day, 1-3. years of age, 1.5-2. g/kg/day; 4-10. years of age, 1-1.5. g/kg/day). Total protein prescription was similar in patients aged >. 10. years (1-1.5. g/kg/day) and maternal patients (1-1.5. g/kg/day). Conclusions: The amounts of total protein prescribed varied between European countries and appeared to be influenced by geographical region. In PKU, all gave higher than the recommended 2007 WHO/FAO/UNU safe levels of protein intake for the general population.

Published
2015

12. Fine-scale mapping of the 4q24 locus identifies & pr two Independent loci associated with breast cancer risk

Author

Guo, X. (Xingyi), Long, J. (Jirong), Zeng, C. (Chenjie), Michailidou, K. (Kyriaki), Ghoussaini, M. (Maya), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Milne, R.L. (Roger L.), Shu, X.-O. (Xiao-Ou), Cai, Q. (Qiuyin), Beesley, J. (Jonathan), Kar, S. (Siddhartha), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Beckmann, M.W. (Matthias), Beeghly-Fadiel, A. (Alicia), Benítez, J. (Javier), Blot, W.J. (William), Bogdanova, N.V. (Natalia), Bojesen, S.E. (Stig), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brinton, L.A. (Louise), Broekss, A. (Annegien), Brüning, T. (Thomas), Burwinkel, B. (Barbara), Cai, H. (Hui), Canisius, S. (Sander), Chang-Claude, J. (Jenny), Choi, J.-Y. (J.), Couch, F.J. (Fergus), Cox, A. (Angela), Cross, S.S. (Simon), Czene, K. (Kamila), Darabi, H. (Hatef), Devilee, P. (Peter), Droit, A. (Arnaud), Dörk, T. (Thilo), Fasching, P.A. (Peter), Fletcher, O. (Olivia), Flyger, H. (Henrik), Fostira, F. (Florentia), Gaborieau, V. (Valerie), García-Closas, M. (Montserrat), Giles, G.G. (Graham G.), Grip, M. (Mervi), Guénel, P. (Pascal), Haiman, C.A. (Christopher A.), Hamann, U. (Ute), Hartman, J.M. (Joost), Hollestelle, A. (Antoinette), Hopper, J.L. (John L.), Hsiung, C.-N. (Chia-Ni), Ito, H. (Hidemi), Jakubowska, A. (Anna), Johnson, N. (Nichola), Kabisch, M. (Maria), Kang, D. (Daehee), Khan, S. (Sofia), Knight, J.A. (Julia), Kosma, V-M. (Veli-Matti), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Li, J. (Jingmei), Lindblom, A. (Annika), Lophatananon, A. (Artitaya), Lubinski, J. (Jan), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Marme, F. (Federick), Matsuo, K. (Keitaro), McLean, C.A. (Catriona Ann), Meindl, A. (Alfons), Muir, K. (Kenneth), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Nord, S. (Silje), Olson, J.E. (Janet), Orr, N. (Nick), Peterlongo, P. (Paolo), Putti, T.C. (Thomas Choudary), Rudolph, A. (Anja), Sangrajrang, S. (Suleeporn), Sawyer, E.J. (Elinor), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Shen, C-Y. (Chen-Yang), Shi, J. (Jiajun), Shrubsole, M. (Martha), Southey, M.C. (Melissa), Swerdlow, A.J. (Anthony ), Teo, S.H. (Soo Hwang), Thienpont, B. (Bernard), Toland, A.E. (Amanda), Tollenaar, R.A.E.M. (Rob), Tomlinson, I. (Ian), Truong, T. (Thérèse), Tseng, C.-C. (Chiu-chen), Ouweland, A.M.W. (Ans) van den, Wen, W. (Wanqing), Winqvist, R. (Robert), Wu, A. (Anna), Yip, C.H. (Cheng Har), Zamora, M.P. (Pilar), Zheng, Y. (Ying), Hall, P. (Per), Pharoah, P.D.P. (Paul), Simard, J. (Jacques), Chenevix-Trench, G. (Georgia), Dunning, A.M. (Alison), Easton, D.F. (Douglas F.), Zheng, W. (Wei), Eeles, R. (Rosalind), Al Olama, A.A. (Ali Amin), Kote-Jarai, Z., Benlloch, S. (Sara), Antoniou, A.C. (Antonis), McGuffog, L. (Lesley), Offit, K. (Kenneth), Lee, A. (Andrew), Dicks, E. (Ed), Luccarini, C. (Craig), Tessier, D.C. (Daniel C.), Bacot, F. (Francois), Vincent, D. (Daniel), La Boissière, S. (Sylvie), Robidoux, F. (Frederic), Nielsen, S.F. (Sune), Cunningham, J.M. (Julie), Windebank, S.A. (Sharon A.), Hilker, C.A. (Christopher A.), Meyer, J. (Jeffrey), Angelakos, M. (Maggie), Maskiell, J. (Judi), Rutgers, E.J. (Emiel J.), Verhoef, S., Hogervorst, F.B.L. (Frans), Boonyawongviroj, P. (Prat), Siriwanarungsan, P. (Pornthep), Schrauder, A. (André), Rübner, M. (Matthias), Oeser, S. (Sonja), Landrith, S. (Silke), Williams, E. (Eileen), Ryder-Mills, E. (Elaine), Sargus, K. (Kara), McInerney, N. (Niall), Colleran, G. (Gabrielle), Rowan, A. (Andrew), Jones, A. (Angela), Sohn, C. (Christof), Schneeweiß, A. (Andeas), Bugert, P. (Peter), Álvarez, N. (Nuria), Bernstein, L. (Leslie), Lacey, J. (James), Wang, S. (Sophia), Ma, H. (Huiyan), Lu, Y. (Yani), Clague De Hart, J. (Jessica), Deapen, D. (Dennis), Pinder, R. (Rich), Lee, E. (Eunjung), Schumacher, F.R. (Fredrick), Horn-Ross, P. (Pam), Reynolds, P. (Peggy), Nelson, D. (David), Park, H. (Hannah), Ziegler, H. (Hartwig), Wolf, S. (Sonja), Hermann, V. (Volker), Lo, W.-Y. (Wing-Yee), Justenhoven, C. (Christina), Ko, Y.-D. (Yon-Dschun), Baisch, C. (Christian), Fischer, H.-P. (Hans-Peter), Pesch, B. (Beate), Rabstein, S. (Sylvia), Lotz, A. (Anne), Harth, V. (Volker), Heikkinen, T. (Tuomas), Erkkilä, I. (Irja), Aaltonen, K. (Kirsimari), Smitten, K. (Karl) von, Antonenkova, N.N. (Natalia), Hillemanns, P. (Peter), Christiansen, H. (Hans), Myöhänen, E. (Eija), Kemiläinen, H. (Helena), Thorne, H. (Heather), Niedermayr, E. (Eveline), Bowtell, D., De Fazio, A. (Anna), Gertig, D., Green, A., Webb, P. (Penny), Parsons, P., Hayward, N., Webb, P.M. (P.), Whiteman, D., Fung, A. (Annie), Yashiki, J. (June), Peuteman, G. (Gilian), Smeets, D. (Dominiek), Van Brussel, T. (Thomas), Corthouts, K. (Kathleen), Obi, N. (Nadia), Heinz, J. (Judith), Behrens, T.W. (Timothy), Eilber, U. (Ursula), Celik, M. (Muhabbet), Olchers, T. (Til), Peissel, B. (Bernard), Scuvera, G. (Giulietta), Zaffaroni, D. (Daniela), Bonnani, B. (Bernardo), Feroce, I. (Irene), Maniscalco, A. (Angela), Rossi, A. (Alessandra), Bernard, L. (Loris), Tranchant, M. (Martine), Valois, M.-F. (Marie-France), Turgeon, A. (Annie), Heguy, L. (Lea), Yee, P.S. (Phuah Sze), Kang, P. (Peter), Nee, K.I. (Kang In), Mariapun, S. (Shivaani), Sook-Yee, Y. (Yoon), Lee, D.S.C. (Daphne S.C.), Ching, T.Y. (Teh Yew), Taib, N.A.M. (Nur Aishah Mohd), Otsukka, M. (Meeri), Mononen, K. (Kari), Selander, T. (Teresa), Weerasooriya, N. (Nayana), Krol-Warmerdam, E.M.M. (Elly), Molenaar, J., Blom, J., Szeszenia-Dabrowska, N. (Neonilia), Peplonska, B. (Beata), Zatonski, W. (Witold), Chao, P. (Pei), Stagner, M. (Michael), Bos, P. (Petra), Blom, J. (Jannet), Crepin, E. (Ellen), Nieuwlaat, A. (Anja), Heemskerk, A. (Annette), Higham, S. (Sue), Cramp, H.E. (Helen), Connley, D. (Daniel), Balasubramanian, S. (Sabapathy), Brock, I.W. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Kerbrat, P. (Pierre), Arveux, P. (Patrick), Le Scodan, R. (Romuald), Raoul, Y. (Yves), Laurent-Puig, P. (Pierre), Mulot, C. (Claire), Stegmaier, C. (Christa), Butterbach, K. (Katja), Karstens, J.H. (Johann), Flesch-Janys, D. (Dieter), Seibold, P. (Petra), Vrieling, A. (Alina), Nickels, S. (Stefan), Radice, P. (Paolo), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Kauppila, S. (Saila), Conroy, D. (Don), Baynes, C. (Caroline), Chua, K. (Kimberley), Pilarski, R. (Robert), Guo, X. (Xingyi), Long, J. (Jirong), Zeng, C. (Chenjie), Michailidou, K. (Kyriaki), Ghoussaini, M. (Maya), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Milne, R.L. (Roger L.), Shu, X.-O. (Xiao-Ou), Cai, Q. (Qiuyin), Beesley, J. (Jonathan), Kar, S. (Siddhartha), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Beckmann, M.W. (Matthias), Beeghly-Fadiel, A. (Alicia), Benítez, J. (Javier), Blot, W.J. (William), Bogdanova, N.V. (Natalia), Bojesen, S.E. (Stig), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brinton, L.A. (Louise), Broekss, A. (Annegien), Brüning, T. (Thomas), Burwinkel, B. (Barbara), Cai, H. (Hui), Canisius, S. (Sander), Chang-Claude, J. (Jenny), Choi, J.-Y. (J.), Couch, F.J. (Fergus), Cox, A. (Angela), Cross, S.S. (Simon), Czene, K. (Kamila), Darabi, H. (Hatef), Devilee, P. (Peter), Droit, A. (Arnaud), Dörk, T. (Thilo), Fasching, P.A. (Peter), Fletcher, O. (Olivia), Flyger, H. (Henrik), Fostira, F. (Florentia), Gaborieau, V. (Valerie), García-Closas, M. (Montserrat), Giles, G.G. (Graham G.), Grip, M. (Mervi), Guénel, P. (Pascal), Haiman, C.A. (Christopher A.), Hamann, U. (Ute), Hartman, J.M. (Joost), Hollestelle, A. (Antoinette), Hopper, J.L. (John L.), Hsiung, C.-N. (Chia-Ni), Ito, H. (Hidemi), Jakubowska, A. (Anna), Johnson, N. (Nichola), Kabisch, M. (Maria), Kang, D. (Daehee), Khan, S. (Sofia), Knight, J.A. (Julia), Kosma, V-M. (Veli-Matti), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Li, J. (Jingmei), Lindblom, A. (Annika), Lophatananon, A. (Artitaya), Lubinski, J. (Jan), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Marme, F. (Federick), Matsuo, K. (Keitaro), McLean, C.A. (Catriona Ann), Meindl, A. (Alfons), Muir, K. (Kenneth), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Nord, S. (Silje), Olson, J.E. (Janet), Orr, N. (Nick), Peterlongo, P. (Paolo), Putti, T.C. (Thomas Choudary), Rudolph, A. (Anja), Sangrajrang, S. (Suleeporn), Sawyer, E.J. (Elinor), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Shen, C-Y. (Chen-Yang), Shi, J. (Jiajun), Shrubsole, M. (Martha), Southey, M.C. (Melissa), Swerdlow, A.J. (Anthony ), Teo, S.H. (Soo Hwang), Thienpont, B. (Bernard), Toland, A.E. (Amanda), Tollenaar, R.A.E.M. (Rob), Tomlinson, I. (Ian), Truong, T. (Thérèse), Tseng, C.-C. (Chiu-chen), Ouweland, A.M.W. (Ans) van den, Wen, W. (Wanqing), Winqvist, R. (Robert), Wu, A. (Anna), Yip, C.H. (Cheng Har), Zamora, M.P. (Pilar), Zheng, Y. (Ying), Hall, P. (Per), Pharoah, P.D.P. (Paul), Simard, J. (Jacques), Chenevix-Trench, G. (Georgia), Dunning, A.M. (Alison), Easton, D.F. (Douglas F.), Zheng, W. (Wei), Eeles, R. (Rosalind), Al Olama, A.A. (Ali Amin), Kote-Jarai, Z., Benlloch, S. (Sara), Antoniou, A.C. (Antonis), McGuffog, L. (Lesley), Offit, K. (Kenneth), Lee, A. (Andrew), Dicks, E. (Ed), Luccarini, C. (Craig), Tessier, D.C. (Daniel C.), Bacot, F. (Francois), Vincent, D. (Daniel), La Boissière, S. (Sylvie), Robidoux, F. (Frederic), Nielsen, S.F. (Sune), Cunningham, J.M. (Julie), Windebank, S.A. (Sharon A.), Hilker, C.A. (Christopher A.), Meyer, J. (Jeffrey), Angelakos, M. (Maggie), Maskiell, J. (Judi), Rutgers, E.J. (Emiel J.), Verhoef, S., Hogervorst, F.B.L. (Frans), Boonyawongviroj, P. (Prat), Siriwanarungsan, P. (Pornthep), Schrauder, A. (André), Rübner, M. (Matthias), Oeser, S. (Sonja), Landrith, S. (Silke), Williams, E. (Eileen), Ryder-Mills, E. (Elaine), Sargus, K. (Kara), McInerney, N. (Niall), Colleran, G. (Gabrielle), Rowan, A. (Andrew), Jones, A. (Angela), Sohn, C. (Christof), Schneeweiß, A. (Andeas), Bugert, P. (Peter), Álvarez, N. (Nuria), Bernstein, L. (Leslie), Lacey, J. (James), Wang, S. (Sophia), Ma, H. (Huiyan), Lu, Y. (Yani), Clague De Hart, J. (Jessica), Deapen, D. (Dennis), Pinder, R. (Rich), Lee, E. (Eunjung), Schumacher, F.R. (Fredrick), Horn-Ross, P. (Pam), Reynolds, P. (Peggy), Nelson, D. (David), Park, H. (Hannah), Ziegler, H. (Hartwig), Wolf, S. (Sonja), Hermann, V. (Volker), Lo, W.-Y. (Wing-Yee), Justenhoven, C. (Christina), Ko, Y.-D. (Yon-Dschun), Baisch, C. (Christian), Fischer, H.-P. (Hans-Peter), Pesch, B. (Beate), Rabstein, S. (Sylvia), Lotz, A. (Anne), Harth, V. (Volker), Heikkinen, T. (Tuomas), Erkkilä, I. (Irja), Aaltonen, K. (Kirsimari), Smitten, K. (Karl) von, Antonenkova, N.N. (Natalia), Hillemanns, P. (Peter), Christiansen, H. (Hans), Myöhänen, E. (Eija), Kemiläinen, H. (Helena), Thorne, H. (Heather), Niedermayr, E. (Eveline), Bowtell, D., De Fazio, A. (Anna), Gertig, D., Green, A., Webb, P. (Penny), Parsons, P., Hayward, N., Webb, P.M. (P.), Whiteman, D., Fung, A. (Annie), Yashiki, J. (June), Peuteman, G. (Gilian), Smeets, D. (Dominiek), Van Brussel, T. (Thomas), Corthouts, K. (Kathleen), Obi, N. (Nadia), Heinz, J. (Judith), Behrens, T.W. (Timothy), Eilber, U. (Ursula), Celik, M. (Muhabbet), Olchers, T. (Til), Peissel, B. (Bernard), Scuvera, G. (Giulietta), Zaffaroni, D. (Daniela), Bonnani, B. (Bernardo), Feroce, I. (Irene), Maniscalco, A. (Angela), Rossi, A. (Alessandra), Bernard, L. (Loris), Tranchant, M. (Martine), Valois, M.-F. (Marie-France), Turgeon, A. (Annie), Heguy, L. (Lea), Yee, P.S. (Phuah Sze), Kang, P. (Peter), Nee, K.I. (Kang In), Mariapun, S. (Shivaani), Sook-Yee, Y. (Yoon), Lee, D.S.C. (Daphne S.C.), Ching, T.Y. (Teh Yew), Taib, N.A.M. (Nur Aishah Mohd), Otsukka, M. (Meeri), Mononen, K. (Kari), Selander, T. (Teresa), Weerasooriya, N. (Nayana), Krol-Warmerdam, E.M.M. (Elly), Molenaar, J., Blom, J., Szeszenia-Dabrowska, N. (Neonilia), Peplonska, B. (Beata), Zatonski, W. (Witold), Chao, P. (Pei), Stagner, M. (Michael), Bos, P. (Petra), Blom, J. (Jannet), Crepin, E. (Ellen), Nieuwlaat, A. (Anja), Heemskerk, A. (Annette), Higham, S. (Sue), Cramp, H.E. (Helen), Connley, D. (Daniel), Balasubramanian, S. (Sabapathy), Brock, I.W. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Kerbrat, P. (Pierre), Arveux, P. (Patrick), Le Scodan, R. (Romuald), Raoul, Y. (Yves), Laurent-Puig, P. (Pierre), Mulot, C. (Claire), Stegmaier, C. (Christa), Butterbach, K. (Katja), Karstens, J.H. (Johann), Flesch-Janys, D. (Dieter), Seibold, P. (Petra), Vrieling, A. (Alina), Nickels, S. (Stefan), Radice, P. (Paolo), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Kauppila, S. (Saila), Conroy, D. (Don), Baynes, C. (Caroline), Chua, K. (Kimberley), and Pilarski, R. (Robert)

Abstract

Background: A recent association study identified a common variant (rs9790517) at 4q24 to be associated with breast cancer risk. Independent association signals and potential functional variants in this locus have not been explored. Methods: We conducted a fine-mapping analysis in 55,540 breast cancer cases and 51,168 controls from the Breast Cancer Association Consortium. Results: Conditional analyses identified two independent association signals among women of European ancestry, represented by rs9790517 [conditional P=2.51 × 10-4; OR, 1.04; 95% confidence interval (CI), 1.02-1.07] and rs77928427 (P=1.86 × 10-4; OR, 1.04; 95% CI, 1.02-1.07). Functional annotation using data from the Encyclopedia of DNA Elements (ENCODE) project revealed two putative functional variants, rs62331150 and rs73838678 in linkage disequilibrium (LD) with rs9790517 (r2≥ 0.90) residing in the active promoter or enhancer, respectively, of the nearest gene, TET2. Both variants are located in DNase I hypersensitivity and transcription factor-binding sites. Using data from both The Cancer Genome Atlas (TCGA) and Molecular Taxonomy of Breast Cancer International Consortium (METABRIC), we showed that rs62331150 was associated with level of expression of TET2 in breast normal and tumor tissue. Conclusion: Our study identified two independent association signals at 4q24 in relation to breast cancer risk and suggested that observed association in this locus may be mediated through the regulation of TET2. Impact: Fine-mapping study with large sample size warranted for identification of independent loci for breast cancer risk.

Published
2015
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13. Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach

Author

Afdeling Dietetiek, Other research (not in main researchprogram), Aguiar, A., Ahring, K., Almeida, M.F., Assoun, M., Belanger Quintana, A., Bigot, S., Bihet, G., Blom Malmberg, K., Burlina, A., Bushueva, T., Caris, A., Chan, H., Clark, Rachael A, Clark, Sue, Cochrane, B., Corthouts, K., Dalmau, Judith, Dassy, M., Meyer, A., Didycz, B., Diels, M., Dokupil, K., Dubois, S., Eftring, K., Ekengren, J., Ellerton, C., Evans, S., Faria, A., Fischer, A., Ford, S., Freisinger, P., Gizewska, M., Gokmen-Ozel, H., Gribben, J., Gunden, F., Heddrich-Ellerbrok, M., Heiber, S., Heidenborg, C., Jankowski, C., Janssen-Regelink, R.G., Jones, C.I., Jonkers, C.F., Joerg-Streller, M., Kaalund-Hansen, K., Kiss, E., Lammardo, A.M., Lang, K., Lier, D., Lilje, R., Lowry, S., Luyten, K., MacDonald, A., Meyer, U., de Moor, J., Pal, A., Robert, C.M., Robertson, L., Rocha, J.C., Rohde, C., Ross, K., Saruhan, S., Sjöqvist, E., Skeath, R., Stoelen, L., ter Horst, N.M., Terry, A., Timmer, C., Tuncer, N., Vande Kerckhove, K., van den Ploeg, L., van Rijn, M., van Spronsen, Francjan J., van Teeffelen-Heithoff, A., van Wegberg, A., van Wyk, K., Vasconcelos, C., Vitoria, I., Wildgoose, J., Webster, D., White, F.J., Zweers, H., Afdeling Dietetiek, Other research (not in main researchprogram), Aguiar, A., Ahring, K., Almeida, M.F., Assoun, M., Belanger Quintana, A., Bigot, S., Bihet, G., Blom Malmberg, K., Burlina, A., Bushueva, T., Caris, A., Chan, H., Clark, Rachael A, Clark, Sue, Cochrane, B., Corthouts, K., Dalmau, Judith, Dassy, M., Meyer, A., Didycz, B., Diels, M., Dokupil, K., Dubois, S., Eftring, K., Ekengren, J., Ellerton, C., Evans, S., Faria, A., Fischer, A., Ford, S., Freisinger, P., Gizewska, M., Gokmen-Ozel, H., Gribben, J., Gunden, F., Heddrich-Ellerbrok, M., Heiber, S., Heidenborg, C., Jankowski, C., Janssen-Regelink, R.G., Jones, C.I., Jonkers, C.F., Joerg-Streller, M., Kaalund-Hansen, K., Kiss, E., Lammardo, A.M., Lang, K., Lier, D., Lilje, R., Lowry, S., Luyten, K., MacDonald, A., Meyer, U., de Moor, J., Pal, A., Robert, C.M., Robertson, L., Rocha, J.C., Rohde, C., Ross, K., Saruhan, S., Sjöqvist, E., Skeath, R., Stoelen, L., ter Horst, N.M., Terry, A., Timmer, C., Tuncer, N., Vande Kerckhove, K., van den Ploeg, L., van Rijn, M., van Spronsen, Francjan J., van Teeffelen-Heithoff, A., van Wegberg, A., van Wyk, K., Vasconcelos, C., Vitoria, I., Wildgoose, J., Webster, D., White, F.J., and Zweers, H.

Published
2015

14. How strict is galactose restriction in adults with galactosaemia? International practice

Author

Afdeling Dietetiek, Other research (not in main researchprogram), Adam, Siddig Momin, Akroyd, R., Bernabei, S., Bollhalder, S., Boocock, S., Burlina, A., Coote, T., Corthouts, K., Dalmau, Judith, Dawson, S., Defourny, S., Meyer, A., Desloovere, A., Devlin, Y., Diels, M., Dokoupil, K., Donald, S., Evans, S., Fasan, I., Ferguson, C., Ford, S., Forga, M., Gallo, G., Grünert, S.C., Heddrich-Ellerbrok, M., Heidenborg, C., Jonkers, C.F., Lefebure, K., Luyten, K., MacDonald, A., Meyer, U., Micciche, A., Müller, E., Portnoi, P., Ripley, S., Robert, C.M., Robertson, L.V., Rosenbaum-Fabian, S., Sahm, K., Schultz, Erica S, Singleton, K., Sjöqvist, E., Stoelen, L., Terry, A., Thompson, S., Timmer, C., Vande Kerckhove, K., van den Ploeg, L., Van Driessche, M., van Rijn, M., van Teeffelen-Heithoff, A., Vitoria, I., Voillot, C., Wenz, J., Westbrook, M., Wildgoose, J., Zweers, H., Afdeling Dietetiek, Other research (not in main researchprogram), Adam, Siddig Momin, Akroyd, R., Bernabei, S., Bollhalder, S., Boocock, S., Burlina, A., Coote, T., Corthouts, K., Dalmau, Judith, Dawson, S., Defourny, S., Meyer, A., Desloovere, A., Devlin, Y., Diels, M., Dokoupil, K., Donald, S., Evans, S., Fasan, I., Ferguson, C., Ford, S., Forga, M., Gallo, G., Grünert, S.C., Heddrich-Ellerbrok, M., Heidenborg, C., Jonkers, C.F., Lefebure, K., Luyten, K., MacDonald, A., Meyer, U., Micciche, A., Müller, E., Portnoi, P., Ripley, S., Robert, C.M., Robertson, L.V., Rosenbaum-Fabian, S., Sahm, K., Schultz, Erica S, Singleton, K., Sjöqvist, E., Stoelen, L., Terry, A., Thompson, S., Timmer, C., Vande Kerckhove, K., van den Ploeg, L., Van Driessche, M., van Rijn, M., van Teeffelen-Heithoff, A., Vitoria, I., Voillot, C., Wenz, J., Westbrook, M., Wildgoose, J., and Zweers, H.

Published
2015

18. Dietary practices in methylmalonic acidaemia: a European survey.

Author

Pinto A, Evans S, Daly A, Almeida MF, Assoun M, Belanger-Quintana A, Bernabei SM, Bollhalder S, Cassiman D, Champion H, Chan H, Corthouts K, Dalmau J, Boer F, Laet C, Meyer A, Desloovere A, Dianin A, Dixon M, Dokoupil K, Dubois S, Eyskens F, Faria A, Fasan I, Favre E, Feillet F, Fekete A, Gallo G, Gingell C, Gribben J, Hansen KK, Horst NT, Jankowski C, Janssen-Regelink R, Jones I, Jouault C, Kahrs GE, Kok I, Kowalik A, Laguerre C, Verge SL, Liguori A, Lilje R, Maddalon C, Mayr D, Meyer U, Micciche A, Och U, Robert M, Rocha JC, Rogozinski H, Rohde C, Ross K, Saruggia I, Schlune A, Singleton K, Sjoqvist E, Skeath R, Stolen LH, Terry A, Timmer C, Tomlinson L, Tooke A, Kerckhove KV, van Dam E, Hurk DVD, Ploeg LV, van Driessche M, van Rijn M, Wegberg AV, Vasconcelos C, Vestergaard H, Vitoria I, Webster D, White F, White L, Zweers H, and MacDonald A

Subjects
Adolescent, Amino Acid Metabolism, Inborn Errors epidemiology, Child, Child, Preschool, Cross-Sectional Studies, Europe epidemiology, Female, Humans, Infant, Infant, Newborn, Male, Nutritional Support, Amino Acid Metabolism, Inborn Errors diet therapy, Dietary Proteins administration & dosage, Surveys and Questionnaires standards
Abstract

Background The dietary management of methylmalonic acidaemia (MMA) is a low-protein diet providing sufficient energy to avoid catabolism and to limit production of methylmalonic acid. The goal is to achieve normal growth, good nutritional status and the maintenance of metabolic stability. Aim To describe the dietary management of patients with MMA across Europe. Methods A cross-sectional questionnaire was sent to European colleagues managing inherited metabolic disorders (IMDs) (n=53) with 27 questions about the nutritional management of organic acidaemias. Data were analysed by different age ranges (0-6 months; 7-12 months; 1-10 years; 11-16 years; >16 years). Results Questionnaires were returned from 53 centres. Twenty-five centres cared for 80 patients with MMA vitamin B12 responsive (MMAB12r) and 43 centres managed 215 patients with MMA vitamin B12 non-responsive (MMAB12nr). For MMAB12r patients, 44% of centres (n=11/25) prescribed natural protein below the World Health Organization/Food and Agriculture Organization/United Nations University (WHO/FAO/UNU) 2007 safe levels of protein intake in at least one age range. Precursor-free amino acids (PFAA) were prescribed by 40% of centres (10/25) caring for 36% (29/80) of all the patients. For MMAB12nr patients, 72% of centres (n=31/43) prescribed natural protein below the safe levels of protein intake (WHO/FAO/UNU 2007) in at least one age range. PFAA were prescribed by 77% of centres (n=33/43) managing 81% (n=174/215) of patients. In MMAB12nr patients, 90 (42%) required tube feeding: 25 via a nasogastric tube and 65 via a gastrostomy. Conclusions A high percentage of centres used PFAA in MMA patients together with a protein prescription that provided less than the safe levels of natural protein intake. However, there was inconsistent practices across Europe. Long-term efficacy studies are needed to study patient outcome when using PFAA with different severities of natural protein restrictions in patients with MMA to guide future practice.

Published
2020
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19. Autism in patients with propionic acidemia.

Author

Witters P, Debbold E, Crivelly K, Vande Kerckhove K, Corthouts K, Debbold B, Andersson H, Vannieuwenborg L, Geuens S, Baumgartner M, Kozicz T, Settles L, and Morava E

Subjects
Adolescent, Adult, Animals, Autism Spectrum Disorder complications, Autism Spectrum Disorder diagnosis, Autism Spectrum Disorder physiopathology, Child, Female, Humans, Infant, Newborn, Leucine metabolism, Male, Propionates metabolism, Propionic Acidemia complications, Propionic Acidemia diagnosis, Propionic Acidemia physiopathology, Young Adult, Autism Spectrum Disorder genetics, Methylmalonyl-CoA Decarboxylase genetics, Neonatal Screening, Propionic Acidemia genetics
Abstract

Certain inborn errors of metabolism have been suggested to increase the risk of autistic behavior. In an animal model, propionic acid ingestion triggered abnormal behavior resembling autism. So far only a few cases were reported with propionic acidemia and autistic features. From a series of twelve consecutively diagnosed cases with propionic acidemia, we report on eight patients with autistic features. The patients were followed 2-4 times a year and underwent regular clinical, dietary and laboratory investigations. Psychological evaluation was performed every second to fourth year. All patients were compliant with the standard diet and carnitine supplementation. None of the patients had frequent metabolic decompensations. From the metabolic factors known to impact neuropsychological outcome we detected chronically decreased valine levels and altered valine to leucine ratios in five out of the eight patients. Recurrent lactic acid elevations were present in six out of the eight patients. Five of the eight patients were diagnosed with Autism Spectrum Disorder, four of them had pathogenic variants in PCCB. Disorder according to DSM-IV and/or DSM-5 criteria. One of the patients diagnosed with propionic acidemia by newborn screening had the most significant behavioral features and another was diagnosed with Autism Spectrum Disorder prior to propionic acidemia. We hypothesize that chronic suboptimal intracellular metabolic balance may be responsible for the increased risk for autistic features in propionic acidemia. We propose that patients diagnosed with propionic acidemia should be screened for Autism Spectrum Disorder., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Published
2016
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20. Dietary intake of non-nutritive sweeteners in type 1 diabetes mellitus children.

Author

Dewinter L, Casteels K, Corthouts K, Van de Kerckhove K, Van der Vaerent K, Vanmeerbeeck K, and Matthys C

Subjects
Adolescent, Child, Child, Preschool, Cross-Sectional Studies, Eating, Female, Food Safety, Humans, Infant, Male, Diabetes Mellitus, Type 1 metabolism, Diet standards, Nutrition Policy, Sweetening Agents administration & dosage, Sweetening Agents analysis
Abstract

The aims of the current cross-sectional study were (1) to assess the intake of aspartame, cyclamate, acesulfame-k, neohesperidine dihydrochalcone, sucralose, saccharin, steviol glycosides and neotame among children with type 1 diabetes mellitus (T1D); (2) to compare the obtained intakes with the respective acceptable daily intake (ADI) values; and (3) to conduct a scenario analysis to obtain practical guidelines for a safe consumption of non-nutritive sweeteners (NNS) among children with T1D. T1D patients of the Paediatrics Department of the University Hospitals Leuven were invited to complete a food frequency questionnaire designed to assess NNS intake using a tier 2 and tier 3 exposure assessment approach. A scenario analysis was conducted by reducing the P95 consumption of the most contributing food categories in order to reach a total sweetener intake lower than or equal to the ADI. Estimated total intakes higher than ADIs were only found for the P95 consumers only of acesulfame-k, cyclamate and steviol glycosides (tier 2 and tier 3 approach). Scenario analysis created dietary guidelines for each age category for diet soda, bread spreads and dairy drinks. There is little chance for T1D children to exceed the ADI of the different NNS, however diabetes educators and dieticians need to pay attention regarding the use of NNS.

Published
2016
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21. Consensus on the guidelines for the dietary management of classical galactosemia.

Author

Kerckhove KV, Diels M, Vanhaesebrouck S, Luyten K, Pyck N, De Meyer A, Van Driessche M, Robert M, Corthouts K, Caris A, Duchateau E, Dassy M, and Bihet G

Abstract

Background and Aim: Worldwide there is scientific discussion about the dietary management of galactosemia. The dietary management is very different in several countries among Europe, the US and Canada. The main points of discussion are related to the fact that i) despite a strict diet some patients still have poor outcomes; ii) there is lack of scientific knowledge about the role of endogenous production of galactose on disease evolution, with or without diet. The aim of the current work was the creation of a Belgian consensus on dietary guidelines for the management of galactosemia., Methods: A step-wise approach was used to achieve a consensus, including: a workshop, a Delphi round, discussion groups and a round table of different Belgian experts., Results: The consensus is an agreement between strict guidelines (strict limitation of fruits, vegetables and soybean products/French guidelines) and the more liberal guidelines (comparable with a diet free of lactose/guidelines of UK and the Netherlands). The consensus document consists of different modules, including the medical context, the theoretical background of dietary guidelines and the age-specific practical dietary guidelines., Conclusion: A Belgian consensus on the guidelines for the dietary management of classical galactosemia was developed despite the uncertainties of the efficacy and practical application of these guidelines. The final consensus is based on scientific knowledge and practical agreement among experts. In the future, regular revision of the guidelines is recommended and a uniform European guideline is desirable., (Copyright © 2014 European Society for Clinical Nutrition and Metabolism. Published by Elsevier Ltd. All rights reserved.)

Published
2015
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