European Journal of Pediatrics

, Volume 174, Issue 1, pp 119–127 | Cite as

Management of adult patients with phenylketonuria: survey results from 24 countries

  • Friedrich K. Trefz
  • Francjan J. van Spronsen
  • Anita MacDonald
  • François Feillet
  • Ania C. Muntau
  • Amaya Belanger-Quintana
  • Alberto Burlina
  • Mübeccel Demirkol
  • Marcello Giovannini
  • Christoph Gasteyger
Original Article

Abstract

Phenylketonuria (PKU) is no longer considered merely a pediatric concern; current guidelines recommend life-long treatment. However, information on the adult PKU patient population is scarce. A survey was initiated on behalf of the European PKU Group (EPG) that focused specifically on early-treated adult patients diagnosed by neonatal screening. The online survey was sent via email to 204 healthcare professionals (HCPs) in 33 countries. Eighty-one HCPs from 24 countries responded. The main findings were that the majority of adult patients with PKU in active follow-up are under 30 years of age and are managed in centers that also treat children. Seventy-eight percent of adult PKU patients in follow-up receive treatment, mainly by diet (71 %), with BH4 treatment rarely used in adulthood. Only 26 % of responding HCPs perform routine neurocognitive testing in all their adult patients. There was little consensus regarding target blood phenylalanine (Phe) concentrations, although the majority of respondents reported that their patients achieved blood Phe concentrations below 1200 μmol/l.

Conclusion: This survey highlights the need for blood Phe concentration target recommendations and consensus guidelines, more research into adult PKU patient management, and the need to identify those patients lost to follow-up to ensure PKU is managed for life.

Keywords

Phenylketonuria Phenylalanine Survey Adults Diet 

Abbreviations

HPA

Hyperphenylalaninemia

IMD

Inherited metabolic disease

Phe

Phenylalanine

PKU

Phenylketonuria

Supplementary material

431_2014_2458_MOESM1_ESM.pdf (70 kb)
ESM 1(PDF 70 kb)

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Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • Friedrich K. Trefz
    • 1
  • Francjan J. van Spronsen
    • 2
  • Anita MacDonald
    • 3
  • François Feillet
    • 4
  • Ania C. Muntau
    • 5
  • Amaya Belanger-Quintana
    • 6
  • Alberto Burlina
    • 7
  • Mübeccel Demirkol
    • 8
  • Marcello Giovannini
    • 9
  • Christoph Gasteyger
    • 10
    • 11
  1. 1.Kreiskliniken Reutlingen GmbH, School of Medicine, Outpatient Medical CentreUniversity of TuebingenGammertingenGermany
  2. 2.Department of Paediatrics, Division of Metabolic Diseases, Beatrix Children’s HospitalUniversity Medical Centre GroningenGroningenThe Netherlands
  3. 3.The Children’s HospitalBirminghamUnited Kingdom
  4. 4.Hôpital d’enfants BraboisParisFrance
  5. 5.University Children’s Hospital, Medical Centre Hamburg EppendorfHamburgGermany
  6. 6.Hospital Ramon y CajalMadridSpain
  7. 7.Division of Inherited Metabolic DiseasesUniversity HospitalPaduaItaly
  8. 8.Department of Paediatrics, Division of Nutrition and Metabolism, Istanbul Faculty of Medicine, Children’s HospitalIstanbul UniversityIstanbulTurkey
  9. 9.Department of Paediatrics, San Paolo HospitalUniversity of MilanMilanItaly
  10. 10.Merck Serono a division of Merck KGaADarmstadtGermany
  11. 11.Alexion Pharmaceuticals, IncZürichSwitzerland

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