Meeting of the Parliament 13 January 2026
I thank Fulton MacGregor for securing the debate, and I thank the colleagues who have taken part. It is important that the voices of the PKU community are heard in the Scottish Parliament.
As we have heard, PKU is a rare inherited metabolic condition that demands an extraordinary level of discipline. It is a relentless 24/7 commitment to a diet that is so restrictive that most of us would struggle for even a single day, never mind a lifetime. Yet, for the PKU community, that is a necessity to prevent irreversible neurological damage.
I join colleagues in paying tribute to the National Society for Phenylketonuria. Its advocacy is the reason why we are here. I also thank the individuals and families who attended the recent drop-in event, which was excellent. Their bravery in sharing the realities of their lived experience is what drives policy change. It was a pleasure to meet them all—I can see some of those faces in the public gallery. I mention Mags Lappin from my home town of Blantyre. Mags first contacted me a few years ago to tell me about the condition and her daughter Carys. Carys is an adult, so Mags has a lot of experience. She is a tireless campaigner, but she should not have to be.
Parents and caregivers are exhausted. What has struck me, and what I want the minister to take from my contribution, is that Mags has an adult daughter and she describes the current state of Scottish clinical services for adult PKU patients as “frightening”. In her own words, Mags has witnessed a “demise” in care. She recalls a time when Glasgow had a world-class metabolic team. To see those services erode to the point at which she believes that we have “gone back 30 years” is simply heartbreaking, so we need to get a response to that.
The motion highlights two game changers: home blood monitoring and sepiapterin—I have probably not said that properly. Currently, patients use dry blood spots. They have to prick their finger, mail a card to a lab and then wait days for a result. That is like a person with diabetes having to wait a week to know their blood sugar level. That would not be acceptable. New trials of point-of-care devices allow for results in under 30 minutes via a smartphone app. That does not just provide data; it provides freedom and the ability to make real-time dietary adjustments.
Likewise, the APHENITY phase 3 trials for sepiapterin have shown incredible promise. In those trials, nearly 73 per cent of participants saw a significant reduction in blood phenylalanine—again, from my pronunciation, members will be able to tell that I am not a clinician—and some were even able to double or triple their daily protein intake. For a PKU patient, that is the difference between a life of medical formula and the ability to eat a more normal meal.
However, innovation is no use if it does not reach the patient. Carys was able to trial sepiapterin only because her mum would not let the issue go. Even then, Carys was at only half the European guideline dosage. I ask the minister to take a look at why, in Scotland, we are seeing patients receiving treatment that goes against international guidelines and the standards that are set across the rest of the UK. We need to look at the chronic staffing shortages that leave families feeling left behind and abandoned. Adult care, in particular, appears to be totally unacceptable. We need accountability. We need dedicated metabolic dieticians and a commitment to those new technologies.
We cannot allow the clock to tick backwards. Mags and Carys and many others have fought for long enough, and we need to make sure that we have PKU services for everyone in Scotland that we can all be proud of.