Table 1 Summary of issues common to European countries from a benchmark report, “PKU: Closing the Gaps in Care”, produced by the European Society of PKU and Allied Disorders[18]
From: Requirements for a minimum standard of care for phenylketonuria: the patients’ perspective
Issue | Key findings |
|---|---|
Neonatal screening | Most countries include blood phenylalanine in neonatal screening |
Availability of management guidelines for PKU | Only available for France (2005), Germany (1999), the UK (1993), and Poland (2001) |
Target levels for blood phenylalanine | Inconsistent between countries for different age ranges |
Composition of healthcare teams | Variable roles for dietician/nutritionist impact on the quality of care |
Access to care | Variable access to care, with not all patients are being offered all treatment options that could improve their condition and quality of life |
Routine clinical practice | Variable practices for diagnosis and guidance of treatment, Lack of specialist centres |
Reimbursement | Variable reimbursement policies for drug and dietary treatment, including amino acid supplements and low protein foods within and across countries |
Transition to adult care | Young patients need more support in becoming self-reliant in PKU management |
Special low-protein foods | Lack of palatability may hinder adherence to dietary management |
Families | The demands of PKU place a strain on family relationships and adolescents may find difficulties associated with PKU in social interaction |