Management of adult patients with phenylketonuria: survey results from 24 countries
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.
KeywordsPhenylketonuria Phenylalanine Survey Adults Diet
Inherited metabolic disease
- 1.Ahring K, Belanger-Quintana A, Dokoupil K, Gokmen-Ozel H, Lammardo AM, MacDonald A, Motzfeldt K, Nowacka M, Robert M, van Rijn M (2011) Blood phenylalanine control in phenylketonuria: a survey of 10 European centres. Eur J Clin Nutr 65(2):275–278. doi:10.1038/ejcn.2010.258 PubMedCrossRefGoogle Scholar
- 3.Bik-Multanowski M, Didycz B, Mozrzymas R, Nowacka M, Kaluzny L, Cichy W, Schneiberg B, Amilkiewicz J, Bilar A, Gizewska M, Lange A, Starostecka E, Chrobot A, Wojcicka-Bartlomiejczyk BI, Milanowski A (2008) Quality of life in noncompliant adults with phenylketonuria after resumption of the diet. J Inherit Metab Dis 31(Suppl 2):S415–418. doi:10.1007/s10545-008-0978-7 PubMedCrossRefGoogle Scholar
- 13.Koch R, Burton B, Hoganson G, Peterson R, Rhead W, Rouse B, Scott R, Wolff J, Stern AM, Guttler F, Nelson M, de la Cruz F, Coldwell J, Erbe R, Geraghty MT, Shear C, Thomas J, Azen C (2002) Phenylketonuria in adulthood: a collaborative study. J Inherit Metab Dis 25(5):333–346PubMedCrossRefGoogle Scholar
- 21.ten Hoedt AE, de Sonneville LM, Francois B, ter Horst NM, Janssen MC, Rubio-Gozalbo ME, Wijburg FA, Hollak CE, Bosch AM (2011) 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 34(1):165–171. doi:10.1007/s10545-010-9253-9 PubMedCentralPubMedCrossRefGoogle Scholar
- 24.Vockley J, Andersson HC, Antshel KM, Braverman NE, Burton BK, Frazier DM, Mitchell J, Smith WE, Thompson BH, Berry SA, American College of Medical G, Genomics Therapeutics C (2014) Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet Med Off J Am College Med Genet 16(2):188–200. doi:10.1038/gim.2013.157 Google Scholar