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Transition of young adults with phenylketonuria from pediatric to adult care

  • Original Article
  • Published:
Journal of Inherited Metabolic Disease

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.

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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

  • Acosta PB, Yannicelli S, Marriage B et al. (1998) Nutrient intake and growth of infants with phenylketonuria undergoing therapy. J Pediatr Gastroenterol Nutr 27:287–291

    Article  PubMed  CAS  Google Scholar 

  • 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 29

  • Blau N, Bélanger-Quintana A, Demirkol M et al. (2010) Management of phenylketonuria in Europe: survey results from 19 countries. Mol Genet Metab 99:109–115

    Article  PubMed  CAS  Google Scholar 

  • Blum R (2002) Improving transition for adolescents with special health care needs from pediatric to adult-centered health care. Pediatrics 110:1301–1303

    PubMed  Google Scholar 

  • 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 14:570–576

    Article  PubMed  CAS  Google Scholar 

  • 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 30:29–34

    Article  PubMed  CAS  Google Scholar 

  • Bremer HJ, Bührdel P. Burgard, P, et al. (1997) Therapie von Patienten mit Phenylketonurie, Empfehlungen der Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS) (German) MschrKinderheilk 145:961-962

  • 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 407:108–110

    Article  PubMed  CAS  Google Scholar 

  • 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–S38

    Article  PubMed  Google Scholar 

  • 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 67:132–138

    Article  PubMed  CAS  Google Scholar 

  • 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 13:310–316

    Article  PubMed  CAS  Google Scholar 

  • 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 40:693–697

    Article  PubMed  CAS  Google Scholar 

  • 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 92:213–218

    Article  PubMed  Google Scholar 

  • 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 26:1–11

    Article  PubMed  CAS  Google Scholar 

  • Feillet F, MacDonald A, Hartung D, Burton B (2010) Outcomes beyond phenylalanine: An international perspective. Mol Genet Metab 99:S79–S85

    Article  PubMed  CAS  Google Scholar 

  • Bundesministerium für Bildung und Forschung (2006) Die wirtschaftliche und soziale Lage der Studierenden in der Bundesrepublik Deutschland 2006 S3

  • Gassió R, Fusté E, López-Sala A, Artuch R, Vilaseca MA, Campistol J (2005) School performance in early and continuously treated phenylketonuria. Pediatr Neurol 33:267–271

    Article  PubMed  Google Scholar 

  • Griffiths PV, Demellweek C, Fay N, Robinson PH, Davidson DC (2000) Wechsler subscale IQ and subtest profile in early treated phenylketonuria. Arch Dis Child 82:209–215

    Article  PubMed  CAS  Google Scholar 

  • Hanley WB (2004) Adult phenylketonuria. Am J Med 117:590–595

    Article  PubMed  CAS  Google Scholar 

  • 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 72:65–71

    PubMed  CAS  Google Scholar 

  • Henrich G, Herschbach P (2000) Questions on life satisfaction (FLZM). EJPA 16:150–159

    Google Scholar 

  • Hoeks MPA, den Heijer M, Janssen MCH (2009) Adult issues in phenylketonuria. Neth J Med 67:2–7

    PubMed  CAS  Google Scholar 

  • 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 30:694–699

    Article  PubMed  CAS  Google Scholar 

  • Jordan A, McDonagh J (2006) Transition: getting it right for young people. Clin Med 6:497–500

    PubMed  Google Scholar 

  • 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 140:516–521

    Article  PubMed  Google Scholar 

  • Lee PJ (2002) Growing older: the adult metabolic clinic. J Inherit Metab Dis 25:252–260

    Article  PubMed  CAS  Google Scholar 

  • MacDonald A, Asplin D (2006) Phenylketonuria: practical dietary management. J Fam Health Care 16:83–85

    PubMed  Google Scholar 

  • 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 21:351–358

    Article  PubMed  CAS  Google Scholar 

  • 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 98:331–337

    Article  PubMed  CAS  Google Scholar 

  • McGill M (2002) How do we organize smooth, effective transition from paediatric to adult diabetes care? Horm Res 57:66–68

    Article  PubMed  CAS  Google Scholar 

  • Michaud PA, Suris JC, Viner R (2004) The adolescent with a chronic condition. Part II: healthcare provision. Arch Dis Child 89:943–949

    Article  PubMed  Google Scholar 

  • 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 32:338–342

    Article  PubMed  CAS  Google Scholar 

  • National Institut of Health Consensus Development Conference Statement (2005) Phenylketonuria: screening and management. J Inher Metab Dis 28(suppl1):18

    Google Scholar 

  • Schidlow DV, Fiel SB (1990) Life beyond pediatrics: transition of chronically ill adolescents from pediatric to adult health care systems. Med Clin North Am 74:1113–1120

    PubMed  CAS  Google Scholar 

  • 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 16:681–688

    Article  PubMed  CAS  Google Scholar 

  • Schmidt H, Burgard P, Pietz J, Rupp A (1996) Intelligence and professional career in young adults treated early for phenylketonuria. Eur J Pediatr 155:97–100

    Article  Google Scholar 

  • Schwarz M, Wendel U (2005) Inborn errors of metabolism (IEM) in adults: a new challenge to internal medicine. Med Klin 100:547–552

    Article  Google Scholar 

  • Scriver CR (2007) The PAH gene, phenylketonuria, and a paradigm shift. Hum Mutat 28:831–845

    Article  PubMed  CAS  Google Scholar 

  • 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 1015–1075

    Google Scholar 

  • 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 6:25

    Article  PubMed  Google Scholar 

  • Stadt Leipzig, Amt für Statistik und Wahlen (2008) Statistisches Jahrbuch 2008: 24, 27, 77, 82, 145

  • 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 23:548–562

    Article  PubMed  CAS  Google Scholar 

  • Unger S, Weigel JF, Stepan H, Baerwald CG (2009) A case of maternal PKU syndrome despite intensive patient counseling. Wien Med Wochenschr 159:507–510

    Article  PubMed  Google Scholar 

  • 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 31:673–679

    Article  PubMed  Google Scholar 

  • Viner R (1999) Transition from paediatric to adult care. Bridging the gaps or passing the buck? Arch Dis Child 81:271–275

    Article  PubMed  CAS  Google Scholar 

  • Walter JH, White FJ, Hall SK et al. (2002) How practical are recommendations for dietary control in phenylketonuria? Lancet 360:55–57

    Article  PubMed  CAS  Google Scholar 

  • 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 155:56–58

    Article  Google Scholar 

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Authors and Affiliations

  1. University Hospital for Children and Adolescents, University Hospital, University of Leipzig, Liebigstrasse 20 a, 04103, Leipzig, Germany

    Ulrike Mütze, Annika Roth, Johannes F. W. Weigel, Skadi Beblo, Peter Bührdel & Wieland Kiess

  2. Department of Internal Medicine II, University Hospital, University of Leipzig, Leipzig, Germany

    Christoph G. Baerwald

Authors
  1. Ulrike Mütze
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  2. Annika Roth
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  3. Johannes F. W. Weigel
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  4. Skadi Beblo
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  5. Christoph G. Baerwald
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  6. Peter Bührdel
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  7. Wieland Kiess
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Correspondence to Ulrike Mütze.

Additional information

Communicated by: Peter Burgard

References to electronic databases: Phenylketonuria: (PKU) OMIM 261600 Phenylalanine hydroxylase: (PAH) EC 1.14.16.1

Competing interest: None declared.

Ulrike Mütze and Annika Roth contributed equally to this work.

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Mütze, U., Roth, A., Weigel, J.F.W. et al. Transition of young adults with phenylketonuria from pediatric to adult care. J Inherit Metab Dis 34, 701–709 (2011). https://doi.org/10.1007/s10545-011-9284-x

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  • DOI: https://doi.org/10.1007/s10545-011-9284-x

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