Ten years of specialized adult care for phenylketonuria - a single-centre experience.

Ulrike Mütze,Uta Ceglarek,Christoph Baerwald,Wieland Kiess,Alena Gerlinde Thiele,Skadi Beblo

doi:10.1186/s13023-016-0410-6

Abstract

BackgroundSpecialized adult care of phenylketonuria (PKU) patients is of increasing importance. Adult outpatient clinics for inherited errors of metabolism can help to achieve this task, but experience is limited. Ten years after establishment of a coordinated transition process and specialised adult care for inherited metabolic diseases, adult PKU care was evaluated with respect to metabolic control, therapy satisfaction, life satisfaction, sociodemographic data, economical welfare as well as pregnancy outcome.MethodsAll PKU patients transferred from paediatric to adult care between 2005 and 2015 were identified. A retrospective data analysis and a cross-sectional survey in a sub-cohort of 30 patients including a questionnaire for assessing quality of life (FLZm) were performed as a single-centre investigation at the metabolic department of the University Hospital Leipzig, Germany. For statistical analysis, Mann-Whitney-U-test, t-test for independent samples, ANOVA and chi square test were used as appropriate.Results96 PKU patients (56 females/40 males; median age 32 years, range 18–62) were included. In the last 3-year period, 81 % of the transferred patients still kept contact to the adult care centre. Metabolic control was stable over the evaluation period and dried blood phenylalanine concentrations mostly remained within the therapeutic range (median 673.0 μmol/l, range 213.0–1381.1). Sociodemographic data, economical welfare and life satisfaction data were comparable to data from the general population. However, differences could be revealed when splitting the cohort according to time of diagnosis and to management during childhood. 83 % of the PKU adults were satisfied with the transition process and current adult care. 25 completed pregnancies were supervised; three newborns, born after unplanned pregnancy, showed characteristic symptoms of maternal PKU syndrome.ConclusionsContinuous care for adult PKU patients in a specialized outpatient clinic is successful, leading to good to satisfactory metabolic control and social outcomes. Uninterrupted good metabolic treatment throughout childhood and adolescence positively influences educational, professional and economic success in later life. Further effort in specialized paediatric and adult metabolic care is needed to prevent loss of follow-up and to support the recommended life-long treatment and/or care.

Highlights

Specialized adult care of phenylketonuria (PKU) patients is of increasing importance
With an increasing number of PKU patients reaching reproductive age, the prevention of maternal PKU syndrome, a severe embryopathy affecting the unborn child of insufficiently controlled PKU mothers, is of increasing importance [13]
All included patients were divided into three groups, according to the time of diagnosis and treatment regime: group A was diagnosed before implementation of newborn screening or beyond newborn period, group B was diagnosed by newborn screening (≤4 weeks of age) and treated early, with therapy interruption during childhood and adolescence for more than 4 years, and group C was diagnosed by newborn screening (≤4 weeks of age) and continuously treated throughout childhood and adolescence

Summary

Introduction

Specialized adult care of phenylketonuria (PKU) patients is of increasing importance. The transition of adolescents from paediatric to adult health care is highly vulnerable [2,3,4] They face new responsibilities for their own health care, calling for personal initiative and independence with respect to their disease management. In this situation, they are at risk to drop out of medical care [5, 6]. They are at risk to drop out of medical care [5, 6] This is especially true for patients with inherited metabolic diseases, such as phenylketonuria (PKU; OMIM 261600) [7,8,9]. With an increasing number of PKU patients reaching reproductive age, the prevention of maternal PKU syndrome, a severe embryopathy affecting the unborn child of insufficiently controlled PKU mothers, is of increasing importance [13]

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