Background: Since the start of the European Society of Phenylketonuria and Allied Disorders Treated as Phenylketonuria (ESPKU) in 1987, an increasing number of parental organizations of member countries have joined. Treatment varies widely within Europe. A survey among professionals was done to determine goals and practice.
Method: In 2005, a questionnaire was sent to professionals of member countries, addressing diagnostic and treatment procedures, numbers of patients necessary for a PKU centre, guidelines followed, numbers of patients treated and professionals involved in care, target phenylalanine concentrations, amount of protein prescribed, frequency of monitoring and clinical visits, need for follow-up of various clinical and biochemical data, the importance of various abnormalities, and definition of (non)compliance.
Results: Seventeen centres of 12 countries answered. Professionals of 13 countries could not be reached or did not respond. Differences in care were observed in many issues of care including target phenylalanine concentrations. Only few issues had general consensus.
Conclusion: Not all countries were really active at ESPKU level. In the active countries, a professional could not always be contacted. Responses show that PKU care varies largely between European countries. Notwithstanding the large diversity on many issues of day-to-day care and therapeutic targets, results showed increasing consensus on some issues. The most important outcome of this questionnaire might be that the Scientific Advisory Committee of the ESPKU initiated meetings for professionals of different backgrounds taking care of PKU patients besides the already existing programme for parents, patients and delegates. Discussion among these professionals may improve quality of care.