Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2018 Oct 18:17:57-63.
doi: 10.1016/j.ymgmr.2018.10.002. eCollection 2018 Dec.

Living with Phenylketonuria: Lessons from the PKU community

Suzanne Ford  1 , Mike O'Driscoll  2 , Anita MacDonald  3
Affiliations

Living with Phenylketonuria: Lessons from the PKU community

Suzanne Ford et al. Mol Genet Metab Rep. .

Abstract

Introduction: We report the practical, social and psychological issues of living with phenylketonuria (PKU) from one of the largest surveys that has been completed by both adults with PKU and parents/caregivers of children.

Methods: In the UK, parents/caregivers of children and adults with PKU were invited to complete an online survey between November 2017 to January 2018 by the NSPKU (National Society for Phenylketonuria).

Results: 631 participants (adults, n = 338; parents/caregivers of children, n = 293) with PKU completed the questionnaire. Problems experienced by children with PKU were: difficulty with maintaining focus (48%, n = 114/236), educational difficulties (28%, n = 67/236), anxiety or depression (29%, n = 68/236), and gastrointestinal symptoms (34%, n = 97/282). Fifty one per cent (n = 120/236) described social exclusion; 17% (n = 41/236) had relationship issues with friends or family. Problems experienced by adults were: depression or anxiety (52%, n = 148/286), difficulty maintaining focus (54%, n = 154/286), and low mood (54%, n = 180/334). Difficulties were experienced with relationships (34%, n = 96/286); social exclusion (44%, n = 126/286); and gastrointestinal issues (n = 34%, n = 112/334). Common medications used included antidepressants (40%, n = 131/331) and anxiolytics (18%, n = 60/334).

Discussions: Adults with PKU or caregivers/parents of children identified significant neurocognitive, mental health and general health issues. Limits on socialisation, perception of social isolation and dietary stigma are major obstacles which are difficult to overcome with conventional dietary management.

Keywords: Diet; Phenylalanine; Phenylketonuria; Questionnaire; Survey; Thematic analysis.

PubMed Disclaimer

References

    1. Medical Research Council Working Party on Phenylketonuria Recommendations on the dietary management of phenylketonuria. Arch. Dis. Child. 1993;68:426–427. - PMC - PubMed
    1. van Spronsen F.J., van Wegberg A.M., Ahring K., Bélanger-Quintana A., Blau N., Bosch A.M., Burlina A., Campistol J., Feillet F., Giżewska M., Huijbregts S.C., Kearney V., Leuzzi F., Maillot A.C., Muntau F.K., Trefz M. Van Rijn, Walter J.H., Macdonald A. Key European guidelines for the diagnosis and management of patients with phenylketonuria. Lancet Diabetes Endocrinol. 2017 Sep;5(9):743–756. - PubMed
    1. MacDonald M. van Rijn, Feillet F., Lund A.M., Bernstein L., Bosch A.M., Gizewska M., van Spronsen F.J. Adherence issues in inherited metabolic disorders treated by low natural protein diets. Ann Nutr Metab. 2012;61:289–295. - PubMed
    1. Jurecki E.R., Cederbaum S., Kopesky J., Perry K., Rohr F., Sanchez-Valle A., Viau K.S., Sheinin M.Y., Cohen-Pfeffer J.L. Adherence to clinic recommendations among patients with phenylketonuria in the United States. Mol. Genet. Metab. 2017;120:190–197. - PubMed
    1. Walter J.H., White F.J., Hall S.K., MacDonald A., Rylance G., Boneh A., Francis D.E., Shortland G.J., Schmidt M., Vail A. How practical are recommendations for dietary control in phenylketonuria? Lancet. 2002 Jul 6;360(9326):55–57. - PubMed