Journal of Inherited Metabolic Disease

, Volume 34, Issue 3, pp 701–709 | Cite as

Transition of young adults with phenylketonuria from pediatric to adult care

  • Ulrike Mütze
  • Annika Roth
  • Johannes F. W. Weigel
  • Skadi Beblo
  • Christoph G. Baerwald
  • Peter Bührdel
  • Wieland Kiess
Original Article

Abstract

Background

Transition from pediatric to adult health care is a particularly vulnerable period for patients with inborn metabolic diseases. Aim of the present study was to evaluate the current transition situation of patients with phenylketonuria (PKU) in Leipzig, Germany, by analysis of the medical care, metabolic control, patients’ satisfaction, socio-economic and psychosocial status, in order to identify areas of weakness and potential improvement.

Methods

Patients who had been transferred from pediatric to adult medical care between 2005 and 2008 were identified. An interview was performed using a questionnaire. Pediatric case notes and the present physician’s case notes were analyzed retrospectively. Socio-demographic data were compared to data derived from the annual statistics of the city of Leipzig, Germany in 2008.

Results

seventy two transferred patients were identified and included in the study, 48 patients responded to the questionnaire, the data of 24 non-responders were analysed retrospectively. About 90% of the responding patients with PKU were satisfied with the current transition situation. However, they agreed to several suggestions of improvement. Most specifically an interdisciplinary appointment before the definite transfer to the adult clinics was asked for. At the time of transition, most of the patients were in good metabolic control according to current treatment guidelines (median dried blood phenylalanine concentration 853 μmol/l before versus 690 μmol/l after transition). Of the interviewed patients 92% were still on a low phenylalanine diet in combination with the intake of a phenylalanine free amino acid mixture. Of the interviewees 77% carried a secondary school certificate or a secondary modern school qualification, but only 19% had achieved senior high school diploma (controls 38.2%). Marital status was comparable with the population of Leipzig. However, fewer patients with PKU had children (15% versus 37%).

Conclusion

Transition of patients with PKU from pediatric to adult care seems to be successful in Leipzig. Patients were mostly satisfied with the transition situation. Still, some suggestions for improvements appeared to be desirable. During transition medical care and metabolic control were stable. However, with regard to psychosocial and socioeconomic data differences to the control population were detected.

Abbreviations

BMI

Body mass index

n.s

Not significant

PAH

Phenylalanine hydroxylase

PKU

Phenylketonuria

WISC-R

Wechsler Intelligence Scale for Children

WAIS

Wechsler adult intelligence scale

References

  1. Acosta PB, Yannicelli S, Marriage B et al. (1998) Nutrient intake and growth of infants with phenylketonuria undergoing therapy. J Pediatr Gastroenterol Nutr 27:287–291PubMedCrossRefGoogle Scholar
  2. Bik-Multanowski M, Didycz B, Mozrzymas R et al. (2008) Quality of life in noncompliant adults with phenylketonuria after resumption of the diet. J Inherit Metab Dis 29Google Scholar
  3. Blau N, Bélanger-Quintana A, Demirkol M et al. (2010) Management of phenylketonuria in Europe: survey results from 19 countries. Mol Genet Metab 99:109–115PubMedCrossRefGoogle Scholar
  4. Blum R (2002) Improving transition for adolescents with special health care needs from pediatric to adult-centered health care. Pediatrics 110:1301–1303PubMedGoogle Scholar
  5. Blum RW, Garell D, Hodgman CH et al. (1993) Transition from child-centered to adult health-care systems for adolescents with chronic conditions: a position paper for the Society of Adolescent Medicine. J Adolesc Health 14:570–576PubMedCrossRefGoogle Scholar
  6. Bosch AM, Tybout W, van Spronsen FJ, de Valk HW, Wijburg FA, Grootenhuis MA (2007) The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria. J Inherit Metab Dis 30:29–34PubMedCrossRefGoogle Scholar
  7. Bremer HJ, Bührdel P. Burgard, P, et al. (1997) Therapie von Patienten mit Phenylketonurie, Empfehlungen der Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS) (German) MschrKinderheilk 145:961-962Google Scholar
  8. Burgard P, Armbruster M, Schmitdt E, Rupp A (1994) Psychopathology of patients treated early for phenylketonuria: results of the German collabrorative study of phenylkotonuria. Acta Paediatr Suppl 407:108–110PubMedCrossRefGoogle Scholar
  9. Burgard P, Schmidt E, Rupp A, Schneider W, Bremer HJ (1996) Intellectual development of the patients of the German Collaborative Study of children treated for phenylketonuria. Eur J Pediatr 155(Suppl 1):S33–S38PubMedCrossRefGoogle Scholar
  10. Busse FP, Hiermann P, Galler A et al. (2007) Evaluation of patients´ opinion and metabolic control after transfer of young adults with type 1 diabetes from a pediatric diabetes clinic to adult care. Horm Res 67:132–138PubMedCrossRefGoogle Scholar
  11. Callahan ST, Winitzer RF, Keenan P (2001) Transition from pediatric to adult-oriented health care: a challenge for patients with chronic disease. Curr Opin Pediatr 13:310–316PubMedCrossRefGoogle Scholar
  12. Ceglarek U, Müller P, Stach B, Bührdel P, Thiery J, Kiess W (2002) Validation of the phenylalanine/tyrosine ratio determined by tandem mass spectrometry: sensitive newborn screening for phenylketonuria. Clin Chem Lab Med 40:693–697PubMedCrossRefGoogle Scholar
  13. Channon S, Goodman G, Zlotowitz S, Mockler C, Lee PJ (2007) Effects of dietary management of phenylketonuria on long-term cognitive outcome. Arch Dis Child 92:213–218PubMedCrossRefGoogle Scholar
  14. Dobbelaere D, Michaud L, Debrabander A et al. (2003) Evaluation of nutritional status and pathophysiology of growth retardation in patients with phenylkatonuria. J Inherit Metab Dis 26:1–11PubMedCrossRefGoogle Scholar
  15. Feillet F, MacDonald A, Hartung D, Burton B (2010) Outcomes beyond phenylalanine: An international perspective. Mol Genet Metab 99:S79–S85PubMedCrossRefGoogle Scholar
  16. Bundesministerium für Bildung und Forschung (2006) Die wirtschaftliche und soziale Lage der Studierenden in der Bundesrepublik Deutschland 2006 S3Google Scholar
  17. Gassió R, Fusté E, López-Sala A, Artuch R, Vilaseca MA, Campistol J (2005) School performance in early and continuously treated phenylketonuria. Pediatr Neurol 33:267–271PubMedCrossRefGoogle Scholar
  18. Griffiths PV, Demellweek C, Fay N, Robinson PH, Davidson DC (2000) Wechsler subscale IQ and subtest profile in early treated phenylketonuria. Arch Dis Child 82:209–215PubMedCrossRefGoogle Scholar
  19. Hanley WB (2004) Adult phenylketonuria. Am J Med 117:590–595PubMedCrossRefGoogle Scholar
  20. Hardelid P, Cortina-Borja M, Munro A et al. (2008) The birth prevalence of PKU in populations of European, South Asian and sub-Saharan African ancestry living in South East England. Ann Hum Genet 72:65–71PubMedGoogle Scholar
  21. Henrich G, Herschbach P (2000) Questions on life satisfaction (FLZM). EJPA 16:150–159Google Scholar
  22. Hoeks MPA, den Heijer M, Janssen MCH (2009) Adult issues in phenylketonuria. Neth J Med 67:2–7PubMedGoogle Scholar
  23. Huemer M, Huemer C, Mösliner D, Huter D, Stöckler-Ipsiroglu S (2007) Growth and body composition in children with classical phenylketonuria: results in 34 patients and review of the literature. J Inherit Metab Dis 30:694–699PubMedCrossRefGoogle Scholar
  24. Jordan A, McDonagh J (2006) Transition: getting it right for young people. Clin Med 6:497–500PubMedGoogle Scholar
  25. Landolt MA, Nuoffer JM, Steinmann B, Superti-Furga A (2002) Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal. J Pediatr 140:516–521PubMedCrossRefGoogle Scholar
  26. Lee PJ (2002) Growing older: the adult metabolic clinic. J Inherit Metab Dis 25:252–260PubMedCrossRefGoogle Scholar
  27. MacDonald A, Asplin D (2006) Phenylketonuria: practical dietary management. J Fam Health Care 16:83–85PubMedGoogle Scholar
  28. MacDonald A, Davies P, Daly A et al. (2008) Does maternal knowledge and parent education affect blood phenylalanine control in phenylketonuria? J Hum Nutr Diet 21:351–358PubMedCrossRefGoogle Scholar
  29. MacLeod EL, Gleason ST, van Calcar SC, Ney DM (2009) Reassessment of phenylalanine tolerance in adults with phenylaketonuria is needed as body mass changes. Mol Genet Metab 98:331–337PubMedCrossRefGoogle Scholar
  30. McGill M (2002) How do we organize smooth, effective transition from paediatric to adult diabetes care? Horm Res 57:66–68PubMedCrossRefGoogle Scholar
  31. Michaud PA, Suris JC, Viner R (2004) The adolescent with a chronic condition. Part II: healthcare provision. Arch Dis Child 89:943–949PubMedCrossRefGoogle Scholar
  32. Musson DG, Kramer WG, Foehr ED et al. (2010) Relative bioavailability of sapropterin from intact and dissolved sapropterin dihydrochloride tablets and the effects of food: a randomized, open-label, crossover study in healthy adults. Clin Ther 32:338–342PubMedCrossRefGoogle Scholar
  33. National Institut of Health Consensus Development Conference Statement (2005) Phenylketonuria: screening and management. J Inher Metab Dis 28(suppl1):18Google Scholar
  34. Schidlow DV, Fiel SB (1990) Life beyond pediatrics: transition of chronically ill adolescents from pediatric to adult health care systems. Med Clin North Am 74:1113–1120PubMedGoogle Scholar
  35. Schmidt E, Rupp A, Burgard P, Pietz J, Weglage J, de Sonneville L (1994) Sustained attention in adult phenylketonuria: the influence of the concurrent phenylalanine-blood-level. J Clin Exp Neuropsychol 16:681–688PubMedCrossRefGoogle Scholar
  36. Schmidt H, Burgard P, Pietz J, Rupp A (1996) Intelligence and professional career in young adults treated early for phenylketonuria. Eur J Pediatr 155:97–100CrossRefGoogle Scholar
  37. Schwarz M, Wendel U (2005) Inborn errors of metabolism (IEM) in adults: a new challenge to internal medicine. Med Klin 100:547–552CrossRefGoogle Scholar
  38. Scriver CR (2007) The PAH gene, phenylketonuria, and a paradigm shift. Hum Mutat 28:831–845PubMedCrossRefGoogle Scholar
  39. Scriver CR, Kaufman S, Eisensmith RC, Woo SLC (1998) The hyperphenylalaninemias. In: Scriver RC, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease. McGraw-Hill, New York, pp 1015–1075Google Scholar
  40. Simon E, Schwarz M, Roos J et al. (2008) Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU). Health Qual Life Outcomes 6:25PubMedCrossRefGoogle Scholar
  41. Stadt Leipzig, Amt für Statistik und Wahlen (2008) Statistisches Jahrbuch 2008: 24, 27, 77, 82, 145Google Scholar
  42. Stemerdink BA, Kalverboer AF, van der Meere JJ et al. (2000) Behaviour and school achievement in patients with early and continuously treated phenylketonuria. J Inherit Metab Dis 23:548–562PubMedCrossRefGoogle Scholar
  43. Unger S, Weigel JF, Stepan H, Baerwald CG (2009) A case of maternal PKU syndrome despite intensive patient counseling. Wien Med Wochenschr 159:507–510PubMedCrossRefGoogle Scholar
  44. Van Spronsen FJ, Burgard P (2008) The truth of treating patients with phenylketonuria after childhood: the needs for a new guideline. J Inherit Metab Dis 31:673–679PubMedCrossRefGoogle Scholar
  45. Viner R (1999) Transition from paediatric to adult care. Bridging the gaps or passing the buck? Arch Dis Child 81:271–275PubMedCrossRefGoogle Scholar
  46. Walter JH, White FJ, Hall SK et al. (2002) How practical are recommendations for dietary control in phenylketonuria? Lancet 360:55–57PubMedCrossRefGoogle Scholar
  47. Zeman J, Pijackova A, Behulova J, Urge O, Saligova HJ (1996) Intellectual and school performance in adolescents with phenylketonuria according to their dietary compliance. The Czech-Slovak collaborative study. Eur J Pediatr 155:56–58CrossRefGoogle Scholar

Copyright information

© SSIEM and Springer 2011

Authors and Affiliations

  • Ulrike Mütze
    • 1
  • Annika Roth
    • 1
  • Johannes F. W. Weigel
    • 1
  • Skadi Beblo
    • 1
  • Christoph G. Baerwald
    • 2
  • Peter Bührdel
    • 1
  • Wieland Kiess
    • 1
  1. 1.University Hospital for Children and Adolescents, University HospitalUniversity of LeipzigLeipzigGermany
  2. 2.Department of Internal Medicine II, University HospitalUniversity of LeipzigLeipzigGermany

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