Gavin’s story in his own words

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As part of our Traces of PKU campaign organised on the ocassion of InternationalPKUDay, Gavin shared his experience of living with PKU and receiving a diagnosis of another health condition — a pituitary adenoma. We now share his story in full. Living With an Invisible Weight: My Mental Health Journey with PKU and a Hidden Hormonal Disorder Some stories take years to understand, and even longer to tell. Last year, when I was asked at ESPKU to share an anecdote about what living with PKU feels like, my mind went blank. I couldn’t find the words in that moment. Only …

European PKU Guidelines at a Glance: Infographic Collection Now Available.

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E.S.PKU is pleased to announce the publication of European PKU Guidelines at a Glance, a comprehensive collection of 11 evidence-based infographics designed to make the latest European PKU Guidelines for the diagnosis and management of Phenylketonuria (PKU) more accessible and easier to implement in everyday practice. Developed by an international multidisciplinary team of experts, the infographics translate the revised European PKU Guidelines into clear, practical visual resources for healthcare professionals, policymakers, patient organisations, people living with PKU and their families. The infographic collection covers the full spectrum of lifelong PKU care, including dietary management, blood phenylalanine monitoring, neuropsychological assessment, pharmacological …

International PKU Day 2026 — Breaking the silence on mental health in PKU

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International PKU Day, celebrated every year on June 28th, serves as a powerful catalyst for raising global awareness about life with Phenylketonuria. Each year, the European Society for Phenylketonuria and Allied Disorders (ESPKU) focuses on a specific facet of the PKU experience. Throughout the month of June, we dedicate our efforts to shedding light on a chosen aspect of PKU, helping the world understand the daily realities, triumphs, and hurdles faced by patients and our community. Living with a rare or chronic condition inevitably leaves a trace on a person’s mental well-being, and PKU is no exception. This year, we …

Defining unmet medical need: what counts?

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European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuriahosted a panel during this year`s European Health Forum in Gastein titled ‘Defining unmetmedical need: what counts?’ The panel featured experts in various fields: Steffen Thirstrup from the European MedicinesAgency (EMA), Anita MacDonald from Birmingham Women’s and Children’s Hospital, RosaCastro from EURORDIS – Rare Diseases Europe, and Thomas Bols from PTC Therapeutics,Inc. In the insightful and substantive discussion, panelists presented their views. AnitaMacDonald described the everyday realities of living with Phenylketonuria, outlining thechallenges patients face and the risks that a restrictive definition of unmet medical needcould create. Rosa Castro stressed that …

Shades of PKU – Why and how our storytelling can bring about a change

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In memory of Robert Guthrie and Horst Bickel, who both were born on June 28, we celebrate International PKU Day every year on this date. With the development and implementation of newborn screening and nutritional therapy, they pioneered to free people living with Phenylketonuria from the darkness of the unavoidable fate of mental disability. The objective of International PKU Day is to shed light on the still existing unmet needs of people living with PKU. This date is the opportunity to lend them voices and faces and to open the eyes and ears of the public for their biographic experiences. …

E.S.PKU launches PKU Life Stories Campaign

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Today, the European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria is launching The PKU Life Stories campaign. As part of this initiative, interviews will be published featuring individuals with Phenylketonuria, parents of people with Phenylketonuria, as well as partners, spouses, and family members of those living with the condition. Each participant will share their story, providing insights into their lives and the impact PKU has had on them. The goal of this campaign is to showcase what life with Phenylketonuria looks like and explore the many ways it can unfold.  The first interview that E.S.PKU will publish as part of …

UNMET MEDICAL NEED IN PHENYLKETONURIA (PKU)

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Phenylketonuria (PKU) is a disease whose severity and burden remains poorly understood. There is a false perception that early diagnosis and a good standard of care have ‘solved’ the problem, and that all European patients have equal access to such care. PKU is a rare inherited genetic disorder resulting from a deficiency in the enzyme that metabolises the amino acid phenylalanine (Phe). If left untreated, PKU causes brain damage, severe developmental, psychological and psychiatric disorders in patients. PKU affects each patient differently throughout their lives depending on the severity of their disease, their age at diagnosis, the treatments they follow …

High-quality healthcare for adults with PKU must be a priority, just as it is for children with PKU

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“The fact that the benefits from PKU treatment in childhood are ‘clear and immediate’ does not equate that there are no benefits for PKU treatment in adulthood” On June 28th PKU community celebrates International PKU Day. This year, E.S.PKU decided to raise awareness of adults with PKU by running a successful campaign “The Life of adults with PKU”. Throughout June on E.S.PKU social media various statements were published about the challenges of adults with Phenylketonuria.  Since Phenylketonuria (PKU) is diagnosed in the early stages of life (nowadays in newborn screening), it has traditionally been perceived as a childhood disease. The …