Abstract

Objective: To reveal the relationship between blood phenylalanine level and psychological state is important in phenylketonuria. In spite of phenylketonuria is one of the most common diseases seen in Turkey there is no studies on the prevalence of depression in adolescents. The aim of this study is to determine the adherence to diet and frequency of depressive disorder in adolescents with phenylketonuria.


Material and Methods: This study was conducted with adolescents with phenylketonuria between November and April 2019. Adolescents were divided into two groups according to the blood phenylalanine levels recommended by the European Society for Phenylketonuria by age. General characteristics of the participants, information about disease and diet were determined with a questionnaire. The Children’s Depression Inventory was used to evaluate the depression status of adolescents.


Results: While blood phenylalanine level of the girls was lower than the boys, forbidden product knowledge, consumption of low protein products and being happy living with PKU were higher. A significant negative correlation was found between dietary adherence and blood phenylalanine level in both groups blood phenylalanine levels below and above as recommended. In those with blood phenylalanine levels above the recommendation, a negative correlation was found between the level of forbidden product knowledge and blood phenylalanine. A significant positive correlation was found between blood phenylalanine levels and BMI percentiles in adolescents with poor diet control. While the relationship between the child depression scale and blood phenylalanine levels by gender was found to be insignificant, a positive correlation was found between the child depression scale and blood phenylalanine levels in the group whose blood phenylalanine levels were above the recommendations.

Conclusion: Due to difficulties encountered in social life and economic reasons adherence to diet decreases while depressive symptoms increase in adolescents with phenylketonuria. It is believed that more socio-economic support of families will increase the adherence to diet. Patients with phenylketonuria need regular meetings with dieticians and trainings to monitor the adherence to diet. Moreover child psychiatrists should be included in the treatment team to solve their mental and social problems.

Keywords: Adolescent, Depression, Diet, Phenylketonuria, Adherence

References

  1. 1. Prasad C, Dalton L, Levy H. Role of diet therapy in management of hereditary metabolic diseases. Nutr Research 1998;18(2):391-402.
  2. 2. Köksal G, Gökmen H. Çocuk Hastalıklarında Beslenme Tedavisi. Hatiboğlu Yayınları, 7. Baskı, 2019, Ankara.
  3. 3. Köseoğlu SZA, Çelikel S. The Current Information in Nutrition Therapy of Phenylketonuria. Avrupa Bilim ve Teknoloji Dergisi 2020;18,755-761.
  4. 4. Zeman J, Pijackova A, Behulova J, Urge O, Saligova D, Hyanek J. Intellectual and school performance in adolescents with phenylketonuria according to their dietary compliance. The Czech-Slovak Collaborative Study. Eur J Pediatr 1996;155[Suppl 1]:S56-S58.
  5. 5. Dunlop BW, Nemeroff CB. The role of dopamine in the pathophysiology of depression. Arch Gen Psychiatry 2007;64:327–337.
  6. 6. Clacy A, Sharman R, McGill J. Depression, Anxiety, and Stress in Young Adults with Phenylketonuria: Associations with Biochemistry. Journal of Developmental & Behavioral Pediatrics 2014;35(6):388 – 391.
  7. 7. Sharman R, Sullivan K, Young RM, McGill J. Depressive symptoms in adolescents with early and continuously treated phenylketonuria: associations with phenylalanine and tyrosine levels. Gene 2012;504(2):288-291.
  8. 8. Waisbren S, White DA. Screening for cognitive and social–emotional problems in individuals with PKU: Tools for use in the metabolic clinic. Molecular Genetics and Metabolism 2010;99:Suppl 1:S96–S99.
  9. 9. Burgard P, Armbruster M, Schmidt E, Rupp A. Psychopathology of patients treated early for phenylketonuria: results of the German collaborative study of phenylketonuria. Acta Paediatr 1994;407:108 - 110.
  10. 10. Wu W, Sheng D, Shao J, Zhao Z, Mental and motor development and psychosocial adjustment of Chinese children with phenylketonuria. J Paediatr Child Health 2011; 47(7): 441–447.
  11. 11. Cappelletti S, Cotugno G, Goffredo BM, et al. Cognitive findings and behavior in children and adolescents with phenylketonuria. J Dev Behav Pediatr. 2013;34(6):392-398.
  12. 12. Weglage J, Grenzebach M, Pietsch M, et al. Behavioural and emotional problems in early-treated adolescents with phenylketonuria in comparison with diabetic patients and healthy controls. J Inherit Metab Dis. 2000;23(5):487-496.
  13. 13. Anjema K, van Rijn M, Verkerk PH, Burgerhof JG, Heiner-Fokkema MR, van Spronsen FJ. PKU: high plasma phenylalanine concentrations are associated with increased prevalence of mood swings. Mol Genet Metab. 2011;104(3):231-234.
  14. 14. Weglage J, Fünders B, Wilken B, et al. Psychological and social findings in adolescents with phenylketonuria. Eur J Pediatr. 1992;151(7):522-525.
  15. 15. Pietz J, Fätkenheuer B, Burgard P, Armbruster M, Esser G, Schmidt H. Psychiatric disorders in adult patients with early-treated phenylketonuria. Pediatrics. 1997;99(3):345-350.
  16. 16. Brumm V.L, Azen C, Moats R, Stern A, Broomand C, Nelson M, et al. Neuropsychological outcome of subjects participating in the PKU Adult Collaborative Study: a preliminary review. J. Inherit. Metab. Dis. 2004;27:549–566.
  17. 17. Ten Hoedt AE, De Sonneville LM, Francois B, et al. High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial. J Inherit Metab Dis. 2011;34(1):165-171.
  18. 18. Koch R, Burton B, Hoganson G, Peterson R, Rhead W, Rouse B, et al. Phenylketonuria in adulthood: a collaborative study. J. Inherit. Metab. Dis. 2002; 25: 333–346.
  19. 19. Bik-Multanowski M, Didycz B, Mozrzymas R, Nowacka M, Kaluzny L, Cichy W, et al. Quality of life in noncompliant adults with phenylketonuria after resumption of the diet. J. Inherit. Metab. Dis. 2008; 31:S415–S418.
  20. 20. Sullivan JE, Chang P. Review: emotional and behavioral functioning in phenylketonuria. J Pediatr Psychol 1999;24(3):281-99.
  21. 21. Crone MR, Van Spronsen FJ, Oudshoorn K, Bekhof J, Van Rijn G, Verkerk PH. Behavioural factors related to metabolic control in patients with phenylketonuria. J Inherit Metab Dis. 2005;28(5):627-637.
  22. 22. Gentile JK, Ten Hoedt AE, Bosch AM. Psychosocial aspects of PKU: hidden disabilities--a review. Mol Genet Metab. 2010;99 Suppl 1:S64-S67.
  23. 23. Simon E, Schwarz M, Roos J, et al. Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU). Health Qual Life Outcomes. 2008;6:25.
  24. 24. Channon S, Goodman G, Zlotowitz S, Mockler C, Lee PJ. Effects of dietary management of phenylketonuria on long-term cognitive outcome. Arch Diseases Child 2007;92(3):213-8.
  25. 25. Palermo L, MacDonald A, Limback E, et al. Emotional health in early-treated adults with phenylketonuria (PKU): Relationship with cognitive abilities and blood phenylalanine. J Clin Exp Neuropsychol. 2020;42(2):142-159.
  26. 26. Sullivan J.E. Emotional outcome of adolescents and young adults with early and continuously treated phenylketonuria. Journal of Pediatric Psychology 2001; 26(8): 477–484.
  27. 27. Van Wegberg AM, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, et al. The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet journal of rare diseases 2017;12(1):162.
  28. 28. Öy B. Çocukluk depresyonu derecelendirme ölçeği: sağlıklı ve çocuk ruh sağlığı kliniğine başvuran çocuklarda uygulanması. Türk Psikiyatri Dergisi 1991; 2(2):137-140.
  29. 29. Ozalp I, Coşkun T, Tokatli A, et al. Newborn PKU screening in Turkey: at present and organization for future. Turk J Pediatr. 2001;43(2):97-101.
  30. 30. Sharman R, Sullivan K, Young RM, McGill J. Depressive symptoms in adolescents with early and continuously treated phenylketonuria: associations with phenylalanine and tyrosine levels. Gene 2012;504(2):288-91.
  31. 31. MacDonald A, Gokmen-Ozel H, van Rijn M, Burgard P. The reality of dietary compliance in the management of phenylketonuria. J Inherit Metab Dis. 2010;33(6):665-670.
  32. 32. Rocha JC, MacDonald A, Trefz F. Is overweight an issue in phenylketonuria?. Molecular Genetics and Metabolism 2013; 110(Suppl), S18-S24.
  33. 33. Wappner R, Cho S, Kronmal RA, Schuett V, Seashore MR. Management of phenylketonuria for optimal outcome: a review of guidelines for phenylketonuria management and a report of surveys of parents, patients, and clinic directors. Pediatrics. 1999;104(6):e68.
  34. 34. Ozel HG, Ahring K, Bélanger-Quintana A, Dokoupil K, Lammardo AM, Robert M, et al. Overweight and obesity in PKU: the results from 8 centres in Europe and Turkey. Molecular genetics and metabolism reports 2014; 1, 483-486.
  35. 35. 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. Molecular genetics and metabolism reports 2012;107(1-2),43-48.
  36. 36. Hatipoglu N, Ozturk A, Mazicioglu MM, Kurtoglu S, Seyhan S, Lokoglu F. Waist circumference percentiles for 7-to 17-year-old Turkish children and adolescents. European journal of pediatrics 2008;167(4),383-389.
  37. 37. Evans S, Daly A, Chahal S, Ashmore C, MacDonald J, MacDonald A. The influence of parental food preference and neophobia on children with phenylketonuria (PKU). Molecular genetics and metabolism reports 2018;14,10-14.
  38. 38. Fidan T, Ertekin V, Karabağ K. Çölyak hastalığı olan çocuk ve ergenlerde depresyon-kaygı düzeyleri ve yaşam kalitesi. Düşünen Adam The Journal of Psychiatry and Neurological Sciences 2013;26:232-238.
  39. 39. Burgard P, Armbruster M, Schmidt E, Rupp A. Psychopathology of patients treated early for phenylketonuria: results of the German collaborative study of phenylketonuria. Acta Paediatr. 1994;407(Suppl):108-110.
  40. 40. Rose HJ, White F, Macdonald A, Rutherford PJ, Favre E. Fat intakes of children with PKU on low phenylalanine diets. J Hum Nutr Diet. 2005;18(5):395-400.

Copyright and license

How to cite

1.
Bayram S, Kanbur E. Determination of Dietary Adherence and Frequency of Depressive Disorder in Adolescents with Phenylketonuria. Turk J Pediatr Dis [Internet]. 2021 Nov. 26 [cited 2025 May 24];15(6):518-25. Available from: https://turkjpediatrdis.org/article/view/744