Bernadette Sheehan Gilroy, PhD candidate and rare disease advocate, Munster Technological University, Kerry, Ireland, discusses the challenges of managing phenylketonuria (PKU). She shares her excitement on the development of handheld monitoring devices to measure serum phenylalanine levels for patients with PKU. However, caution must be taken to avoid ‘helicopter parenting’ and over monitoring. Other issues within the PKU community include inaccurate and misleading labelling of phenylalanine and proteins in foods; moving forward, a universal food labelling system would be beneficial for PKU patients. While phenylalanine is the current gold standard biomarker, research has demonstrated that other possible biomarkers show promise. This interview took place at the European Academy of Neurology (EAN) Annual Meeting 2024 in Helsinki, Finland.
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