ArticleOrphanet journal of rare diseases2026
Navigating adulthood with PKU: metabolic outcomes, quality of life, and mental health 4.5 years post-transition.
Article in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.
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Who cites it
4 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Is Phenylalanine Restricted Dietary Treatment in Phenylketonuria Associated with Disordered Eating: A Systematic Review.Nutrients · 2026Pooled it
- Observational
- How Well Is Blood Phenylalanine Controlled in Maternal PKU in Europe? Results from 102 Pregnancies.Nutrients · 2026Article
- Body composition in adults with phenylketonuria: A 5 years follow-up study.Molecular genetics and metabolism reports · 2026Article
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Authors and funding
6 authors.
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No grant is acknowledged in the PubMed record.
Abstract
introductionAdult care for individuals with phenylketonuria (PKU) remains limited, as many centers prioritize pediatric patients. Structured transition into adult care is essential to maintain metabolic stability, adherence, and monitor comorbidities - particularly psychiatric ones. This study evaluates metabolic control, quality of life (QoL), and the impact of psychiatric comorbidities in adults with PKU after transition.
methodsThis retrospective study included 45 adults with PKU assessed 4.5 years after entering adult care. Data from transition and annual follow-ups were analyzed. Phenylalanine (Phe) concentrations were assessed using venous blood samples and dried blood spots. Dietary habits and amino acid mixtures (AAM) intake were recorded via interviews. QoL was measured with the PKU-QOL (0-100; lower scores indicate better QoL) and WHO-5 (0-25, higher scores indicate better well-being). Comorbidities were obtained from medical records.
resultsMean Phe concentration remained stable (998.3 ± 290.4µmol/l). Adherence to low-protein diet increased from 77.8% to 100%, and AAM intake from 62.5% to 85.8% over 4.5 years. Consistent AAM use (≥ 3x/day) and adherence to low-protein diet were each associated with lower Phe levels compared to no AAM or no diet (- 362.9µmol/l and - 304.1µmol/l, p < 0.05). Overall, 89% had comorbidities, most commonly psychiatric disorders (31%). These individuals showed higher Phe levels (1169µmol/l vs. 823µmol/l, p < 0.05), lower dietary adherence (33% vs. 70%, p < 0.01), and greater QoL impairment.
conclusionStructured transition into adult care supports metabolic stability. However, psychiatric comorbidities are strongly linked to poorer adherence and worse metabolic and psychosocial outcomes. Integrating psychological support into adult PKU care is therefore essential. SYNOPSIS: A structured transition into adult care can support the maintenance of metabolic control and quality of life in adults with PKU, especially given the high prevalence of psychiatric comorbidities, which can negatively affect adherence.
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