EVALUATION OF GROWTH IN LONG-TERM FOLLOW-UP IN INDIVIDUALS WITH PHENYLKETONURIA

Abstract

Objective: The aim of our study was to evaluate the anthropo metric parameters of patients with Phenylketonuria (PKU) re ceiving special nutritional therapy and how these parameters changed over time, and to evaluate anthropometric measure ments in the early years of life in terms of predicting the devel opment of overweight/obesity later in life. Material and Methods: In this single-centre, long-term, obser vational, and descriptive study, 102 individuals with phenylke tonuria who were diagnosed in the first two months of life and initiated nutritional treatment were included. Results: The ratios of overweight and obesity were found to be lower in our patient group compared with the general population in both evaluations. The weight-for-age (p=0.000), heightfor-age (p=0.000), weight-for-height (p=0.000), and body mass index (p=0.052) of the patients decreased compared with the evaluation at the baseline of the follow-up period. Forty-six patients had a change in their anthropometric evaluations. Conclusion: Monitoring anthropometric measurements and body composition changes in all patient groups receiving specialised nutritional therapies is critical in determining and monitoring treatment efficacy. The reason for the low ratios of obesity and overweight in our patient group compared with the healthy population is thought to be the close monitoring of nutritional therapies and anthropometric parameters of the patients in the follow-up.

Keywords

• Phenylketonuria
• nutrition therapy
• body mass index
• obesity
• overweight

FENİLKETONÜRİLİ BİREYLERDE UZUN SÜRELİ TAKİPTE BÜYÜMENİN DEĞERLENDİRİLMESİ

Abstract

Amaç: Çalışmamızın amacı özel beslenme tedavisi alan Fenil ketonüri (PKU) hastalarının antropometrik indekslerini ve bu in dekslerin zaman içerisinde nasıl değiştiğini incelemek, hayatın erken yıllarındaki antropometrik ölçümleri hayatın ilerleyen dö nemlerinde aşırı tartılılık/obezite gelişimi öngörüsü açısından değerlendirmekti. Gereç ve Yöntem: Tek merkezli, uzun dönemli, gözlemsel ve ta nımlayıcı çalışmaya, yaşamın ilk iki ayında tanı alarak beslenme tedavisine başlanmış 102 fenilketonürili birey dâhil edilmiştir. Bulgular: Hasta grubumuzda yapılan her iki değerlendirmede de aşırı tartılılık ve obezite oranları genel topluma kıyasla düşük bulunmuştur. Hastaların boya göre tartı (p=0.000), yaşa göre tartı (p=0.000), yaşa göre boy (p=0.000) ve beden kitle indekslerinde (p=0.052) izlem sürecinin başındaki değerlendirmeye kıyasla azalma tespit edilmiştir. Kırk altı hastanın antropometrik değerlendirmelerinde değişiklik gözlenmiştir. Sonuç: Özel beslenme tedavileri alan tüm hasta gruplarında ant ropometrik ölçümlerin ve vücut kompozisyonu değişikliklerinin izlemi tedavi etkinliğinin belirlenmesi ve izleminde kritik öneme sahiptir. Hasta grubumuzda obezite ve aşırı tartılılık oranlarının sağlıklı topluma kıyasla düşük olmasının nedeninin izlemde has taların beslenme tedavilerinin ve antropometrik parametreleri nin yakından izlenmesi olduğu düşünülmüştür.

Keywords

• Fenilketonüri
• beslenme tedavisi
• vücut küt le indeksi
• obezite
• aşırı tartı

References

1. Rodrigues C, Pinto A, Faria A, Teixeira D, van Wegberg AMJ, Ahring K, et al. Is the Phenylalanine-Restricted Diet a Risk Factor for Overweight or Obesity in Patients with Phenylketonuria (PKU)? A Systematic Review and Meta-Analysis. Nutrients 2021;13(10):3443. [CrossRef] google scholar
2. Gokmen Ozel H, Ahring K, Belanger-Quintana A, Dokoupil K, Lammardo AM, Robert M, et al. Overweight and obesity in PKU: The results from 8 centres in Europe and Turkey. Mol Genet Metab Rep. 2014;1:483-6. [CrossRef] google scholar
3. World Health Organization. Obesity and Overweight 2024. Fact sheets, detail 2024 (cited 2024 Sep 5) https://www.who. int/news-room/fact-sheets/detail/obesity-and-overweight. google scholar
4. World Health Organization. Obesity: Preventing and Managing the Global Epidemic: Report of a WHO Consultation. WHO technical report series 2000 (cited 2024 Sep 10) https://iris.who.int/handle/10665/42330 google scholar
5. Blüher M. Obesity: global epidemiology and pathogenesis. Nat Rev Endocrinol 2019;15(5):288-98. [CrossRef] google scholar
6. Hruby A, Manson JE, Qi L, Malik VS, Rimm EB, Sun Q, et al. Determinants and Consequences of Obesity. Am J Public Health 2016;106(9):1656-62. [CrossRef] google scholar
7. Centers for Disease Control and Prevention About Adult BMI. 2022 10 March. (cited 2024 Sep 9) https://www.cdc. gov/healthyweight/assessing/bmi/adult_bmi/. google scholar
8. World Health Organization. BMI-for-age (5-19 years) 2024. (cited 2024 Sep 9) https://www.who.int/tools/growth-reference-data-for-5to19-years/indicators/bmi-for-age. google scholar

9. National Institutes of Health. Childhood Obesity. 2022 (cited 2024 Sep 10) https://www.nhlbi.nih.gov/health/ overweight-and-obesity/childhood-obesity#:~:text=BMI. google scholar
10. Burrage LC, McConnell J, Haesler R, O’Riordan MA, Sutton VR, Kerr DS, et al. High prevalence of overweight and obesity in females with phenylketonuria. Mol Genet Metab 2012;107(1-2):43-8. [CrossRef] google scholar
11. Trefz KF, Muntau AC, Kohlscheen KM, Altevers J, Jacob C, Braun S, et al. Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data. Orphanet J Rare Dis 2019;14(1):181. [CrossRef] google scholar
12. Luengo-Perez LM, Fernândez-Bueso M, Ambrojo A, Guijarro M, Ferreira AC, Pereira-da-Silva L, et al. Body composition evaluation and clinical markers of cardiometabolic risk in patients with phenylketonuria. Nutrients 2023;15(24):5133. [CrossRef] google scholar
13. Türkiye İstatistik Kurumu. Türkiye Sağlık Araştırması, 2014. (cited 2024 Sep 11) https://data.tuik.gov.tr/Bulten/ Index?p=Turkiye-Saglik-Arastirmasi-2014-18854. google scholar
14. Türkiye İstatistik Kurumu. Türkiye Sağlık Araştırması, 2022. (cited 2024 Sep 11) https://data.tuik.gov.tr/Bulten/ Index?p=Turkiye-Saglik-Arastirmasi-2022-49747. google scholar
15. Rocha JC, van Spronsen FJ, Almeida MF, Ramos E, Guimarâes JT, Borges N. Early dietary treated patients with phenylketonuria can achieve normal growth and body composition. Mol Genet Metab 2013;110(Suppl):S40-3. [CrossRef] google scholar
16. Camatta GC, Kanufre VC, Alves MRA, Soares RDL, Norton RC, de Aguiar MJB, et al. Body fat percentage in adolescents with phenylketonuria and associated factors. Mol Genet Metab Rep 2020;23:100595. [CrossRef] google scholar
17. Burton BK, Jones KB, Cederbaum S, Rohr F, Waisbren S, Irwin DE, et al. Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria. Mol Genet Metab 2018;125(3):228-34. [CrossRef] google scholar
18. Walkowiak D, Kaluzny L, Bukowska-Posadzy A, Oltarzewski M, Staszewski R, Moczko JA, et al. Overweight in classical phenylketonuria children: A retrospective cohort study. Adv Med Sci 2019;64(2):409-14. [CrossRef] google scholar
19. Albersen M, Bonthuis M, de Roos NM, van den Hurk DA, Carbasius Weber E, Hendriks MM, et al. Whole body composition analysis by the BodPod air-displacement plethysmography method in children with phenylketonuria shows a higher body fat percentage. J Inherit Metab Dis 2010;33(Suppl 3):S283-8. [CrossRef] google scholar
20. Robertson LV, McStravick N, Ripley S, Weetch E, Donald S, Adam S, et al. Body mass index in adult patients with diet-treated phenylketonuria. J Hum Nutr Diet 2013;26(Suppl 1:1-6. [CrossRef] google scholar
21. Nogueira ZD, Boa-Sorte N, Leite MEQ, Toralles MBP, Amorim T. Metabolic control and body composition of children and adolescents with phenylketonuria. Rev Paul Pediatr 2021;39:e2020095. [CrossRef] google scholar
22. Weng HL, Yang FJ, Chen PR, Hwu WL, Lee NC, Chien YH. Dietary intake and nutritional status of patients with phenylketonuria in Taiwan. Sci Rep 2020;10(1):14537. [CrossRef] google scholar
23. Barta AG, Becsei D, Kiss E, Sumânszki C, Simonovâ E, Reismann P. The impact of phenylketonuria on body composition in adults. Ann Nutr Metab 2022;78(2):98-105. [CrossRef] google scholar