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Fenilketonüri (PKU) hastalarına yönelik inovatif ürün geliştirme; Muffin tatlısı

Year 2025, Volume: 11 Issue: 4, 318 - 329, 02.10.2025

Sibel Ayyıldız , Emine Turan

https://doi.org/10.3153/FH25027

Abstract

Fenilketonüri (PKU) hastalarının daha sağlıklı yaşam kalitesine sahip olması oldukça zordur. Protein bu tür bireyler için kısıtlı bir beslenme sebebi olabilmektedir. Bu nedenle PKU hastalığına sahip bireyler için hem sağlıklı beslenmeye katkı sağlamak hem de düşük proteinli gıdalara ulaşılabilirliği arttırmak amacıyla muffin (tatlı kek) üretimi yapılmıştır. Çalışmanın 3.aşamasında nihai reçetesi oluşturulan muffin ile kontrol grubunda bulunan gıda ürünlerinin besin ögelerini analiz etmek için BeBİS 9 programı kullanılmıştır. Çalışmanın yürütülmesinde nitel araştırma yöntemlerinden biri olan deneysel araştırma yöntemi kullanılmıştır. Duyusal analiz için eşlenmiş kıyaslama testi kullanılmıştır. Araştırmada elde edilen veriler SPSS istatistik programı ile analiz edilerek bulgular yorumlanmıştır. PKU hastaları için özel olarak tasarlanan bu muffin, düşük enerji, düşük karbonhidrat ve düşük protein içeriğiyle onların diyet gereksinimlerine uygun bir seçenek olarak öne çıkmaktadır. PKU muffin, fenilalanin alımını sınırlandırmak zorunda olan bireyler için geliştirilmiştir. Fenilalanin değerinin (12,5 g) düşük olması, ürünün PKU hastalarının diyetine uygun olduğunu göstermektedir. Duyusal analiz sonuçlarında ise geliştirilmiş PKU muffin /R2) koku ve lezzet açısından en yüksek pozitif farklılığı yaratmıştır. Çalışma PKU (fenilketonüri) bireyler için geliştirilmiş muffinin tadının büyük ölçüde beğenildiğini ortaya koymuştur. Yapılan araştırma sonucunda PKU’lu bireyler için hem beğeni düzeyi yüksek hem de düşük proteinli bir alternatif geliştirilmiştir.

Keywords

PKU Fenilketonüri PKU beslenme Muffin

Ethical Statement

Çalışmanın etik izni 28.02.2025 tarihli, E-78977401-050.04-417464 sayılı T.C. Karabük Üniversitesi Rektörlüğünün Sosyal ve Beşeri, Bilimler Araştırmaları Etik Kurulu yazısı ile çalışma etik kurul kararı alınmıştır.

References

  • Aktaç, Ş., Öğren, G., Fereli, S., Kargın, D., İçen, H. (2021). Fenilketonürili çocukların beslenme durum ve davranışları üzerine annelerin besleme davranışlarının etkisi. Turkish Journal of Pediatric Disease, 15(3), 174-180. https://doi.org/10.12956/tchd.561368
  • Alptekin, İ.M., Çakıroğlu, F.P. (2019). Fenilketonüri hastalarının sosyal yaşamda karşılaştıkları zorluklar: niteliksel bir araştırma. Acıbadem Üniversitesi Sağlık Bilimleri Dergisi, (4), 763-769. https://doi.org/10.31067/0.2019.227
  • Altuğ Onoğur, T., Elmacı, Y. (2011). Gıdalarda Duyusal Değerlendirme (2. Baskı). İzmir Sidas Yayıncılık. ISBN: 9789944566087
  • Bannick, A.A., Laufman, J.D., Edwards, H.L., Ventimiglia, J., Feldman, G.L. (2015). Outcomes of referrals to Child Protective Services for medical neglect in patients with phenylketonuria: Experiences at a single treatment center. Molecular Genetics and Metabolism, 115(4), 151-156. https://doi.org/10.1016/j.ymgme.2015.06.003
  • Brown, C. S., Lichter-Konecki, U. (2016). Phenylketonuria (PKU): A problem solved?. Molecular Genetics and Metabolism Reports, 6, 8-12. https://doi.org/10.1016/j.ymgmr.2015.12.004
  • Büyükkurt, Ö.K., Durak, A.N., Erbaş, M. (2018). Fenilketonüri hastaları için fenilalanin içeriği azaltılmış bir un geliştirilmesi. Gıda, 43(5), 812-825. https://doi.org/10.15237/gida.GD18029
  • Christ, S.E. (2003). Asbjorn folling and the discovery of phenylketonuria. Journal of the History of the Neurosciences, 12(1), 44-54. https://doi.org/10.1076/jhin.12.1.44.13788
  • Dababneh, S., Alsbou, M., Taani, N., Sharkas, G., Ismael, R., Maraqa, L., ...Almasri, A. (2022). Epidemiology of phenylketonuria disease in jordan: medical and nutritional challenges. Children, 9(3), 402. https://doi.org/10.3390/children9030402
  • Elhawary, N.A., AlJahdali, I.A., Abumansour, I.S., Elhawary, E.N., Gaboon, N., Dandini, M., Kensara, O.A. (2022). Genetic etiology and clinical challenges of phenylketonuria. Human Genomics, 16(1), 22. https://doi.org/10.1186/s40246-022-00398-9
  • Evans, S., Daly, A., Wildgoose, J., Cochrane, B., Chahal, S., Ashmore, C., Loveridge, N., MacDonald, A., (2019). Growth, protein and energy ıntake in children with pku taking a weaning protein substitute in the first two years of life: A case-control study. Nutrients, 11, 552. https://doi.org/10.3390/nu11030552
  • Giovannini, M., Verduci, E., Salvatici, E., Paci, S., Riva, E. (2012). Phenylketonuria: Nutritional advances and challenges. Nutrition & Metabolism, 9, 1-7. https://doi.org/10.1186/1743-7075-9-7
  • Gökmen Ö.H, Coşkun T. (2012). PKU in Turkey and therapeutical approaches. In: Surendran S (ed) Neurochemistry of Metabolic Diseases, Lysosomal Storage Diseases, Phenylketonuria and Canavan Disease (1st ed). New York: Nova Publishers, 203-240.
  • Kim, J., Lee, S., Lee, J., Park, J.C., Kim, K.H., Ko, J.M., ... Lee, J. Y. (2022). Neurotoxicity of phenylalanine on human iPSC-derived cerebral organoids. Molecular Genetics and Metabolism, 136(2), 132-144. https://doi.org/10.1016/j.ymgme.2022.04.005
  • McWhorter, N., Ndugga-Kabuye, M.K., Puurunen, M., & Ernst, S.L. (2022). Complications of the low phenylalanine diet for patients with phenylketonuria and the benefits of increased natural protein. Nutrients, 14(23), 4960. https://doi.org/10.3390/nu14234960
  • Talebi, S., Eshraghi, P. (2024). Nutrition in phenylketonuria. Clinical Nutrition ESPEN, 64, 307-313. https://doi.org/10.1016/j.clnesp.2024.09.032
  • Thomas, L., Olson, A., Romani, C. (2023). The impact of metabolic control on cognition, neurophysiology, and well-being in PKU: A systematic review and meta-analysis of the within-participant literature. Molecular Genetics and Metabolism, 138(1), 106969. https://doi.org/10.1016/j.ymgme.2022.106969
  • O'Shea, M.E., Sheehan Gilroy, B., Greaney, A.M., MacDonald, A. (2022). Moving through adulthood: The lived experience of Irish adults with PKU. Frontiers in Psychology, 13, 983154. https://doi.org/10.3389/fpsyg.2022.983154
  • Pandey, S., Sunny, A., Govindaraju, K., & Singh, R.P. (2020). Development of low phenylalanine flour for phenylketonuric patient. Journal of Food Processing and Preservation, 44(11), e14894. https://doi.org/10.1111/jfpp.14894
  • Rondanelli, M., Porta, F., Gasparri, C., Barrile, G.C., Cavioni, A., Mansueto, F., ... Perna, S. (2023). A food pyramid for adult patients with phenylketonuria and a systematic review on the current evidences regarding the optimal dietary treatment of adult patients with PKU. Clinical Nutrition, 42(5), 732-763. https://doi.org/10.1016/j.clnu.2023.03.007
  • Russo, G. L., Puleo, S., Cavella, S., Scala, I., Fidaleo, M., & Di Monaco, R. (2024). Advancements in food science for Phenylketonuria (PKU) management: a comprehensive review. Critical Reviews in Food Science and Nutrition, 1-15. https://doi.org/10.1080/10408398.2024.2360075
  • Strisciuglio, P., Concolino, D. (2014). New Strategies for the Treatment of Phenylketonur (PKU). Metabolites, 4, 1007-1017. https://doi.org/10.3390/metabo4041007
  • Şahin, İ., Çıkrıkçı, F., (2018). Deneysel Araştırma Yöntemi. Eğitim Yönetiminde Araştırma (pp.307-326), Ankara: Pegem A Yayıncılık. ISBN: 978-605-318-356-6
  • van Spronsen, F.J., Blau, N., Harding, C., Burlina, A., Longo, N., Bosch, A.M. (2021). Phenylketonuria. Nature reviews Disease Primers, 7(1), 36. https://doi.org/10.1038/s41572-021-00267-0
  • van Calcar, S.C., Ney, D.M. (2012). Food products made with glycomacropeptide, a low-phenylalanine whey protein, provide a new alternative to amino acid-based medical foods for nutrition management of phenylketonuria. Journal of the Academy of Nutrition and Dietetics, 112(8), 1201-1210. https://doi.org/10.1016/j.jand.2012.05.004
  • Weng, H.L., Yang, F.J., Chen, P.R., Hwu, W.L., Lee, N.C., Chien, Y.H. (2020). Dietary intake and nutritional status of patients with phenylketonuria in Taiwan. Scientific Reports, 10(1), 14537. https://doi.org/10.1038/s41598-020-71361-8
  • Zurfluh, M.R., Zschocke, J., Lindner, M., Feillet, F., Chery, C., Burlina, A. Stevens, R.C., Thony, B., Blau, N. (2008). Molecular genetics of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency. Human Mutation, 29, 167-175. https://doi.org/10.1002/humu.20637

Development of ınnovative products for phenylketonuria (PKU) patients: Muffin dessert

Year 2025, Volume: 11 Issue: 4, 318 - 329, 02.10.2025

Sibel Ayyıldız , Emine Turan

https://doi.org/10.3153/FH25027

Abstract

It is quite challenging for individuals with Phenylketonuria (PKU) to maintain a high quality of life. Protein intake must be restricted for individuals with this condition due to its significant dietary limitations. Therefore, to support healthy nutrition and improve the accessibility of low-protein foods for individuals with PKU, muffins (a type of sweet cake) were developed. In the third phase of the study, the final formulation of the muffin was created, and the nutrient content of the muffin was analysed along with that of the control group food products using the BeBIS 9 software. The study employed an experimental research method and a qualitative research approach. For sensory analysis, the paired comparison test was used. Data obtained from the study were analysed and interpreted using the SPSS statistical software. This muffin, designed explicitly for PKU patients, stands out as a suitable dietary option due to its low energy, carbohydrate, and protein content, which meets their nutritional requirements. The PKU muffin was developed to limit phenylalanine intake for individuals with PKU. The low phenylalanine content (12.5 g) demonstrates the product's suitability for inclusion in the diets of PKU patients. Sensory analysis results showed that the improved PKU muffin (R2) created the highest positive differentiation in terms of aroma and taste. The study highlights that the participants largely appreciated the taste of the developed PKU muffin. As a result of the study, a low-protein alternative with high acceptability was developed for individuals with PKU.

Keywords

PKU Phenylketonuria PKU diet Muffin

Ethical Statement

The ethical permission for the study was obtained from the Social and Human Sciences Research Ethics Committee of the Karabük University Rectorate, dated 28.02.2025 and numbered E-78977401-050.04-417464.

References

  • Aktaç, Ş., Öğren, G., Fereli, S., Kargın, D., İçen, H. (2021). Fenilketonürili çocukların beslenme durum ve davranışları üzerine annelerin besleme davranışlarının etkisi. Turkish Journal of Pediatric Disease, 15(3), 174-180. https://doi.org/10.12956/tchd.561368
  • Alptekin, İ.M., Çakıroğlu, F.P. (2019). Fenilketonüri hastalarının sosyal yaşamda karşılaştıkları zorluklar: niteliksel bir araştırma. Acıbadem Üniversitesi Sağlık Bilimleri Dergisi, (4), 763-769. https://doi.org/10.31067/0.2019.227
  • Altuğ Onoğur, T., Elmacı, Y. (2011). Gıdalarda Duyusal Değerlendirme (2. Baskı). İzmir Sidas Yayıncılık. ISBN: 9789944566087
  • Bannick, A.A., Laufman, J.D., Edwards, H.L., Ventimiglia, J., Feldman, G.L. (2015). Outcomes of referrals to Child Protective Services for medical neglect in patients with phenylketonuria: Experiences at a single treatment center. Molecular Genetics and Metabolism, 115(4), 151-156. https://doi.org/10.1016/j.ymgme.2015.06.003
  • Brown, C. S., Lichter-Konecki, U. (2016). Phenylketonuria (PKU): A problem solved?. Molecular Genetics and Metabolism Reports, 6, 8-12. https://doi.org/10.1016/j.ymgmr.2015.12.004
  • Büyükkurt, Ö.K., Durak, A.N., Erbaş, M. (2018). Fenilketonüri hastaları için fenilalanin içeriği azaltılmış bir un geliştirilmesi. Gıda, 43(5), 812-825. https://doi.org/10.15237/gida.GD18029
  • Christ, S.E. (2003). Asbjorn folling and the discovery of phenylketonuria. Journal of the History of the Neurosciences, 12(1), 44-54. https://doi.org/10.1076/jhin.12.1.44.13788
  • Dababneh, S., Alsbou, M., Taani, N., Sharkas, G., Ismael, R., Maraqa, L., ...Almasri, A. (2022). Epidemiology of phenylketonuria disease in jordan: medical and nutritional challenges. Children, 9(3), 402. https://doi.org/10.3390/children9030402
  • Elhawary, N.A., AlJahdali, I.A., Abumansour, I.S., Elhawary, E.N., Gaboon, N., Dandini, M., Kensara, O.A. (2022). Genetic etiology and clinical challenges of phenylketonuria. Human Genomics, 16(1), 22. https://doi.org/10.1186/s40246-022-00398-9
  • Evans, S., Daly, A., Wildgoose, J., Cochrane, B., Chahal, S., Ashmore, C., Loveridge, N., MacDonald, A., (2019). Growth, protein and energy ıntake in children with pku taking a weaning protein substitute in the first two years of life: A case-control study. Nutrients, 11, 552. https://doi.org/10.3390/nu11030552
  • Giovannini, M., Verduci, E., Salvatici, E., Paci, S., Riva, E. (2012). Phenylketonuria: Nutritional advances and challenges. Nutrition & Metabolism, 9, 1-7. https://doi.org/10.1186/1743-7075-9-7
  • Gökmen Ö.H, Coşkun T. (2012). PKU in Turkey and therapeutical approaches. In: Surendran S (ed) Neurochemistry of Metabolic Diseases, Lysosomal Storage Diseases, Phenylketonuria and Canavan Disease (1st ed). New York: Nova Publishers, 203-240.
  • Kim, J., Lee, S., Lee, J., Park, J.C., Kim, K.H., Ko, J.M., ... Lee, J. Y. (2022). Neurotoxicity of phenylalanine on human iPSC-derived cerebral organoids. Molecular Genetics and Metabolism, 136(2), 132-144. https://doi.org/10.1016/j.ymgme.2022.04.005
  • McWhorter, N., Ndugga-Kabuye, M.K., Puurunen, M., & Ernst, S.L. (2022). Complications of the low phenylalanine diet for patients with phenylketonuria and the benefits of increased natural protein. Nutrients, 14(23), 4960. https://doi.org/10.3390/nu14234960
  • Talebi, S., Eshraghi, P. (2024). Nutrition in phenylketonuria. Clinical Nutrition ESPEN, 64, 307-313. https://doi.org/10.1016/j.clnesp.2024.09.032
  • Thomas, L., Olson, A., Romani, C. (2023). The impact of metabolic control on cognition, neurophysiology, and well-being in PKU: A systematic review and meta-analysis of the within-participant literature. Molecular Genetics and Metabolism, 138(1), 106969. https://doi.org/10.1016/j.ymgme.2022.106969
  • O'Shea, M.E., Sheehan Gilroy, B., Greaney, A.M., MacDonald, A. (2022). Moving through adulthood: The lived experience of Irish adults with PKU. Frontiers in Psychology, 13, 983154. https://doi.org/10.3389/fpsyg.2022.983154
  • Pandey, S., Sunny, A., Govindaraju, K., & Singh, R.P. (2020). Development of low phenylalanine flour for phenylketonuric patient. Journal of Food Processing and Preservation, 44(11), e14894. https://doi.org/10.1111/jfpp.14894
  • Rondanelli, M., Porta, F., Gasparri, C., Barrile, G.C., Cavioni, A., Mansueto, F., ... Perna, S. (2023). A food pyramid for adult patients with phenylketonuria and a systematic review on the current evidences regarding the optimal dietary treatment of adult patients with PKU. Clinical Nutrition, 42(5), 732-763. https://doi.org/10.1016/j.clnu.2023.03.007
  • Russo, G. L., Puleo, S., Cavella, S., Scala, I., Fidaleo, M., & Di Monaco, R. (2024). Advancements in food science for Phenylketonuria (PKU) management: a comprehensive review. Critical Reviews in Food Science and Nutrition, 1-15. https://doi.org/10.1080/10408398.2024.2360075
  • Strisciuglio, P., Concolino, D. (2014). New Strategies for the Treatment of Phenylketonur (PKU). Metabolites, 4, 1007-1017. https://doi.org/10.3390/metabo4041007
  • Şahin, İ., Çıkrıkçı, F., (2018). Deneysel Araştırma Yöntemi. Eğitim Yönetiminde Araştırma (pp.307-326), Ankara: Pegem A Yayıncılık. ISBN: 978-605-318-356-6
  • van Spronsen, F.J., Blau, N., Harding, C., Burlina, A., Longo, N., Bosch, A.M. (2021). Phenylketonuria. Nature reviews Disease Primers, 7(1), 36. https://doi.org/10.1038/s41572-021-00267-0
  • van Calcar, S.C., Ney, D.M. (2012). Food products made with glycomacropeptide, a low-phenylalanine whey protein, provide a new alternative to amino acid-based medical foods for nutrition management of phenylketonuria. Journal of the Academy of Nutrition and Dietetics, 112(8), 1201-1210. https://doi.org/10.1016/j.jand.2012.05.004
  • Weng, H.L., Yang, F.J., Chen, P.R., Hwu, W.L., Lee, N.C., Chien, Y.H. (2020). Dietary intake and nutritional status of patients with phenylketonuria in Taiwan. Scientific Reports, 10(1), 14537. https://doi.org/10.1038/s41598-020-71361-8
  • Zurfluh, M.R., Zschocke, J., Lindner, M., Feillet, F., Chery, C., Burlina, A. Stevens, R.C., Thony, B., Blau, N. (2008). Molecular genetics of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency. Human Mutation, 29, 167-175. https://doi.org/10.1002/humu.20637
There are 26 citations in total.

Details

Primary Language Turkish
Subjects Nutritional Science, Public Health Nutrition, Food Sciences (Other)
Journal Section Research Articles
Authors

Sibel Ayyıldız 0000-0003-0701-2445

Emine Turan 0009-0009-9918-7445

Early Pub Date August 29, 2025
Publication Date October 2, 2025
Submission Date February 19, 2025
Acceptance Date May 15, 2025
Published in Issue Year 2025 Volume: 11 Issue: 4

Cite

APA Ayyıldız, S., & Turan, E. (2025). Fenilketonüri (PKU) hastalarına yönelik inovatif ürün geliştirme; Muffin tatlısı. Food and Health, 11(4), 318-329. https://doi.org/10.3153/FH25027
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