Fenilketonürili Çocuklarda Diyet Tedavisi ve Obezite Sıklığı

Öz

Fenilketonüri (FKU), amino asit metabolizmasının en sık görülen, doğuştan gelen, otomozal resesif geçen ve kan fenilalanin seviyesini normal sınırlarda tutmak için düşük fenilalanin diyetinin uygulandığı bir hastalıktır. FKU hastaları obeziteye yatkınlık yaratabilecek karbonhidratlardan ve yağlardan zengin bir diyet tüketme eğilimindedir. Ayrıca FKU’lu bireylerin yeme davranışlarının, düşük proteinli özel ürün/besin içeriğinin, artan protein ikamesi kullanımlarının, egzersiz eksikliğinin, FKU tiplerinin, kadın cinsiyetin ve adölesan dönemin obezite etiyolojisinde yer alabileceği bildirilmiştir. Bazı eski çalışmalar FKU’lu hastalarda obezitenin artışını gösterirken bazı çalışmaların sonuçları tutarsızdır. Tedavi stratejilerindeki farklılıklar, kan fenilalanin konsantrasyonları için hedef aralıklar ve FKU'nun şiddeti, sonuçta aşırı kilo gelişiminin seyrini modüle eden beslenme alımlarını ve diyet deneyimlerini değiştirebilir. Bu sebeple bu derlemede diyet tedavisi ve ilişkili diyet faktörlerinin obezite sıklığına etkisini değerlendirmek amaçlanmıştır. Bununla birlikte FKU tedavisinde, FKU’lu bireylerde obezitenin önlenmesi için beslenme ekibinin beslenme, yeme davranışı ve egzersizin önemine dikkat etmesi gereklidir.

Anahtar Kelimeler

• Fenilketonüri
• Fenilalanin
• Diyet Terapisi
• Beslenme Durumu
• Obezite.

Diet Therapy and Obesity Prevalence in Children with Phenylketonuria

Öz

Phenylketonuria (PKU) is the most common congenital disorder of amino acid metabolism, inherited in an autosomal recessive manner, and requires a low-phenylalanine diet to maintain blood phenylalanine levels within normal limits. Therefore, PKU patients tend to consume a diet rich in carbohydrates and fats, which can predispose to obesity. It has also been reported that eating behaviors of individuals with FKU, low-protein specialty product content, increased use of protein substitutes, lack of exercise, types of PKU, female gender and adolescence may be involved in the etiology of obesity. While some older studies have shown an increase in obesity in patients with PKU, the results of other studies are inconsistent. Differences in treatment strategies, target ranges for blood phenylalanine concentrations and severity of PKU may alter dietary intakes and dietary experiences that ultimately modulate the course of overweight development. This review therefore aims to assess the impact of dietary treatment and associated dietary factors on the prevalence of obesity. However, in the treatment of PKU, the nutrition team should pay attention to the importance of nutrition, eating behavior and exercise to prevent obesity in individuals with PKU.

Anahtar Kelimeler

• Phenylketonuria
• Phenylalanine
• Diet Therapy
• Nutritional Status
• Obesity.

Kaynakça

1. Ahmadzadeh, M., Sohrab, G., Alaei, M., Eini-Zinab, H., mohammadpour-Ahranjani, B., Rastgoo, S., & Namkhah, Z. (2022). Growth and Nutritional Status of Phenylketonuric Children and Adolescents. doi:10.21203/rs.3.rs-1735248/v1.
2. Aktaç, Ş., Öğren, G., Fereli, S., Karğın, D. & İçen, H. (2021). Fenilketonürili Çocukların Beslenme Durum ve Davranışları Üzerine Annelerin Besleme Davranışlarının Etkisi . Türkiye Çocuk Hastalıkları Dergisi , 15 (3) , 174-180.
3. Alghamdi, N., Alfheeaid, H., Cochrane, B., Adam, S., Galloway, P., Cozens, A., … Gerasimidis, K. (2021). Mechanisms of obesity in children and adults with phenylketonuria on contemporary treatment. Clinical Nutrition ESPEN, 46, 539–543. doi:10.1016/j.clnesp.2021.10.012.
4. Alptekin, I. M., Koc, N., Gunduz, M., & Cakiroglu, F. P. (2018). The impact of phenylketonuria on PKU patients’ quality of life: Using of the phenylketonuriaquality of life (PKU-Qol) questionnaires. Clinical Nutrition ESPEN, 27, 79–85. doi:10.1016/j.clnesp.2018.06.005.
5. Atef Abdelsattar Ibrahim, H., Fouad Ahmed, G., Mohamed Abdelhamid ElKhashab, K., Amin, A. A., Farag Attia Elsebaey, A., & Sayed Abbas, E. (2023a). Prevalence of overweight and obesity in children diagnosed with phenylketonuria. Journal of Comprehensive Pediatrics, 14(3). doi:10.5812/compreped-136499.
6. Belanger-Quintana, A., & Martínez-Pardo, M. (2011). Physical development in patients with phenylketonuria on dietary treatment: A retrospective study. Molecular Genetics and Metabolism, 104(4), 480–484. doi:10.1016/j. ymgme.2011.08.002
7. Benedet, J., Assis, M. A., Calvo, M. C., & Andrade, D. F. (2013). Excesso de Peso Em Adolescentes: Explorando Potenciais fatores de risco. Revista Paulista de Pediatria, 31(2), 172–181. doi:10.1590/s0103-05822013000200007
8. Burrage, L. C., McConnell, J., Haesler, R., O’Riordan, M. A., Sutton, V. R., Kerr, D. S., & McCandless, S. E. (2012). High prevalence of overweight and obesity in females with phenylketonuria. Molecular Genetics and Metabolism, 107(1–2), 43–48. doi:10.1016/j.ymgme.2012.07.006

9. Camatta, G. C., Kanufre, V. de, Alves, M. R., Soares, R. D., Norton, R. de, de Aguiar, M. J., & Starling, A. L. (2020). Body fat percentage in adolescents with phenylketonuria and associated factors. Molecular Genetics and Metabolism Reports, 23, 100595. doi:10.1016/j.ymgmr.2020.100595
10. Couce, M. L., Sánchez-Pintos, P., Vitoria, I., De Castro, M.-J., Aldámiz-Echevarría, L., Correcher, P., … Leis, R. (2018). Carbohydrate status in patients with phenylketonuria. Orphanet Journal of Rare Diseases, 13(1). doi:10.1186/ s13023-018-0847-x
11. Coşkun, T., Çoker, M., Mungan, N. Ö., Özel, H. G., & Sivri, H. S. (2022). Recommendations on phenylketonuria in Turkey. The Turkish Journal of Pediatrics, 64(3), 413–434. doi:10.24953/turkjped.2021.4098.
12. Daly, A., Evans, S., Pinto, A., Ashmore, C., Rocha, J. C., & MacDonald, A. (2020). A 3 year longitudinal prospective review examining the dietary profile and contribution made by special low protein foods to energy and macronutrient intake in children with phenylketonuria. Nutrients, 12(10), 3153. doi:10.3390/nu12103153
13. Das, A. M., Goedecke, K., Meyer, U., Kanzelmeyer, N., Koch, S., Illsinger, S., … Ding, X.-Q. (2013). Dietary habits and metabolic control in adolescents and young adults with phenylketonuria: Self-imposed protein restriction may be harmful. JIMD Reports, 149–158. doi:10.1007/8904_2013_273
14. de Almeida, B. N., Laufer, J. A., Mezzomo, T. R., Shimada, N. C., Furtado, I. H., Dias, M. R., & Pereira, R. M. (2020). Nutritional and metabolic parameters of children and adolescents with phenylketonuria. Clinical Nutrition ESPEN, 37, 44–49. doi:10.1016/j.clnesp.2020.03.024.
15. Evans, S., Daly, A., Chahal, S., Ashmore, C., MacDonald, J., & MacDonald, A. (2018). The influence of parental food preference and neophobia on children with phenylketonuria (PKU). Molecular Genetics and Metabolism Reports, 14, 10–14. doi:10.1016/j.ymgmr.2017.10.007
16. Evans, S., Daly, A., Wildgoose, J., Cochrane, B., Chahal, S., Ashmore, C., … MacDonald, A. (2019). Growth, protein and energy intake in children with PKU taking a weaning protein substitute in the first two years of life: A case-control study. Nutrients, 11(3), 552. doi:10.3390/nu11030552
17. Evans, M., Truby, H., & Boneh, A. (2017). The relationship between dietary intake, growth and body composition in phenylketonuria. Molecular Genetics and Metabolism, 122(1–2), 36–42. doi:10.1016/j.ymgme.2017.07.007.
18. Hillert, A., Anikster, Y., Belanger-Quintana, A., Burlina, A., Burton, B. K., Carducci, C., … Blau, N. (2020). The genetic landscape and epidemiology of phenylketonuria. The American Journal of Human Genetics, 107(2), 234–250. doi:10.1016/j.ajhg.2020.06.006.
19. Ilgaz, F., Pinto, A., Gökmen-Özel, H., Rocha, J. C., van Dam, E., Ahring, K., … MacDonald, A. (2019). Long-term growth in phenylketonuria: A systematic review and meta-analysis. Nutrients, 11(9), 2070. doi:10.3390/nu11092070.
20. Jani, R., Coakley, K., Douglas, T., & Singh, R. (2017). Protein intake and physical activity are associated with body composition in individuals with phenylalanine hydroxylase deficiency. Molecular Genetics and Metabolism, 121(2), 104–110. doi:10.1016/j.ymgme.2017.04.012
21. MacDonald, A., van Wegberg, A. M., Ahring, K., Beblo, S., Bélanger-Quintana, A., Burlina, A., … van Spronsen, F. J. (2020). Correction to: PKU Dietary Handbook to accompany PKU Guidelines. Orphanet Journal of Rare Diseases, 15(1). doi:10.1186/s13023-020-01486-6.
22. Moretti, F., Pellegrini, N., Salvatici, E., Rovelli, V., Banderali, G., Radaelli, G., … Verduci, E. (2017). Dietary glycemic index, glycemic load and metabolic profile in children with phenylketonuria. Nutrition, Metabolism and Cardiovascular Diseases, 27(2), 176–182. doi:10.1016/j.numecd.2016.11.002
23. Ozturk, Y., Gencpinar, P., Erdur, B., Tokgoz, Y., Isik, I., & Akin, S. B., (2018). Overweight and Obesity in Children Under Phenylalanine Restricted Diet. HONG KONG JOURNAL OF PAEDIATRICS , vol.23, no.2, 169-172.
24. Pena, M. J., Almeida, M. F., van Dam, E., Ahring, K., Bélanger-Quintana, A., Dokoupil, K., … Rocha, J. C. (2015). Special low protein foods for phenylketonuria: Availability in Europe and an examination of their nutritional profile. Orphanet Journal of Rare Diseases, 10(1). doi:10.1186/s13023-015-0378-7
25. Robertson, L. V., McStravick, N., Ripley, S., Weetch, E., Donald, S., Adam, S., … MacDonald, A. (2013). Body mass index in adult patients with diet-treated phenylketonuria. Journal of Human Nutrition and Dietetics, 26(s1), 1–6. doi:10.1111/jhn.12054
26. Rocha, J. C., MacDonald, A., & Trefz, F. (2013). Is overweight an issue in phenylketonuria? Molecular Genetics and Metabolism, 110. doi:10.1016/j. ymgme.2013.08.012.
27. Rocha, J. C., van Spronsen, F. J., Almeida, M. F., Soares, G., Quelhas, D., Ramos, E., … Borges, N. (2012). Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome. Molecular Genetics and Metabolism, 107(4), 659–663. doi:10.1016/j.ymgme.2012.10.006
28. Rodrigues, C., Pinto, A., Faria, A., Teixeira, D., van Wegberg, A. M., Ahring, K., … Rocha, J. C. (2021). Is the phenylalanine-restricted diet a risk factor for overweight or obesity in patients with phenylketonuria (PKU)? A systematic review and meta-analysis. Nutrients, 13(10), 3443. doi:10.3390/nu13103443.
29. Sailer, M., Elizondo, G., Martin, J., Harding, C. O., & Gillingham, M. B. (2020). Nutrient intake, body composition, and blood phenylalanine control in children with phenylketonuria compared to healthy controls. Molecular Genetics and Metabolism Reports, 23, 100599. doi:10.1016/j.ymgmr.2020.100599
30. Sena, B. dos, Andrade, M. I., Silva, A. P., Dourado, K. F., & Silva, A. L. (2020). Overweight and associated factors in children and adolescents with phenylketonuria: A systematic review. Revista Paulista de Pediatria, 38. doi:10.1590/1984-0462/2020/38/2018201.
31. Silveira, A. M., Lima, P. L., Alves, M. R., Soares, R. D., Kanufre, V. de, Rodrigues, V. de, … Aguiar, M. J. (2022). Overweight/obesity in adolescents with phenylketonuria: Protective and predisposing factors. Jornal de Pediatria, 98(1), 104–110. doi:10.1016/j.jped.2021.04.009.
32. Tandoğan, Z., & Bilgin, M. G. (2022). Fenilketonüri Hastalarının Beslenme Alışkanlıkları ve Besin Tüketim Düzeylerinin Değerlendirilmesi. Journal of Child, 22(3), 191-199. https://doi.org/10.26650/jchild.2022.994409
33. Ülker, İ., & Şanlıer, N. (2018). Fenilketonüride Beslenme ve Yeni Tedavi Yaklaşımları. Güncel Pediatri, 16(2), 187-198.
34. Walkowiak, D., Kaluzny, L., Bukowska-Posadzy, A., Oltarzewski, M., Staszewski, R., Moczko, J. A., … Walkowiak, J. (2019). Overweight in classical phenylketonuria children: A retrospective cohort study. Advances in Medical Sciences, 64(2), 409–414. doi:10.1016/j.advms.2019.08.001
35. Wood, G., Evans, S., Pointon-Bell, K., Rocha, J. C., & MacDonald, A. (2020). Special low protein foods in the UK: An examination of their macronutrient composition in comparison to regular foods. Nutrients, 12(6), 1893. doi:10.3390/nu12061893