Presentation (CTI)

OBJECTIVES: PKU is a rare, lifelong metabolic disorder that requires continuous dietary management. While advances have been made in pharmacological treatments, adults with PKU experience substantial clinical, psychosocial, and economic burden; the complexities of how disease burden impacts mental health, relationships, and employment are not well characterised.
METHODS: 90-minute semi-structured interviews were conducted with six HCPs from the USA and Canada (two dietitians and one nurse practitioner per country). Each HCP was asked open-ended questions to explore experiences of adult patients with PKU. Interviews addressed Phe level management, neurological/cognitive outcomes, daily and workplace functioning, mental health and QoL, social and relationship functioning, physical health comorbidities, and pregnancy/family planning.
RESULTS: Transition to adulthood and independent dietary management represent a key PKU milestone, yet complexities of adult life can create a vicious cycle in which poor Phe control impacts multiple aspects of daily living. Long-term Phe elevation can lead to loss of insight into the impact of PKU, alongside cognitive decline that can impair the ability to achieve stable employment. Subsequent financial challenges may limit access to health insurance, medications, medical formulas, and low-Phe foods, further exacerbating poor metabolic control and perpetuating the cycle. PKU is also associated with physical comorbidities such as obesity, diabetes, and osteoporosis, reflecting long-term reliance on diets and formulas that are high in carbohydrates and sugars but of limited nutritional value. In addition, anxiety and depression are common in PKU which can contribute to emotional and behavioural challenges and place strain on relationships. Pregnancy and family planning presents a further unique challenge, particularly for women.
CONCLUSIONS: The long-term consequences of PKU extend beyond executive dysfunction, frequently encompassing physical comorbidities such as obesity and diabetes. These challenges contribute to a vicious cycle of difficulty managing an impossibly restrictive diet and subsequent impact on mental health, relationships/other family members, academic success, and employment.