Dietary Liberalization in Tetrahydrobiopterin-Treated PKU Patients: Does It Improve Outcomes?

Evers, Roeland A F; Wegberg, Annemiek M. J. van; MacDonald, Anita; Huijbregts, Stephan C. J.; Leuzzi, Vincenzo; Spronsen, Francjan J. van

doi:10.3390/nu14183874

Cited by 4 publications

(4 citation statements)

References 45 publications

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“…Adherence to sapropterin was reported to be dependent on the extent of blood Phe reduction along with the increase in Phe tolerance, furthermore improving impairments in attention and executive functions [ 6 , 54 , 61 , 62 , 63 , 64 , 65 , 66 , 67 , 68 ]. However, for most patients on sapropterin, diet can only be partially normalised, which does not completely alleviate the burden of MNT [ 69 , 70 ]. Despite the progress made, researchers continue to search for new treatment modalities that can further minimise the burden of PKU management and ultimately address the unmet treatment need in the long term [ 71 ].…”

Section: Resultsmentioning

confidence: 99%

Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria

Rocha,

Ahring,

Bausell

et al. 2023

Nutrients

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Many adults with phenylketonuria (PKU) rely on medical nutrition therapy (MNT; low phenylalanine (Phe) diet with protein substitutes/medical foods) to maintain blood Phe concentrations within recommended ranges and prevent PKU-associated comorbidities. Despite disease detection through newborn screening and introduction of MNT as early as birth, adherence to MNT often deteriorates from childhood onwards, complicating the assessment of its effectiveness in the long term. Via a modified Delphi process, consensus (≥70% agreement) was sought on 19 statements among an international, multidisciplinary 13-member expert panel. After three iterative voting rounds, the panel achieved consensus on 17 statements related to the limitations of the long-term effectiveness of MNT (7), the burden of long-term reliance on MNT (4), and its potential long-term detrimental health effects (6). According to the expert panel, the effectiveness of MNT is limited in the long term, is associated with a high treatment burden, and demonstrates that adults with PKU are often unable to achieve metabolic control through dietary management alone, creating an unmet need in the adult PKU population.

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Section: Resultsmentioning

confidence: 99%

Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria

Rocha,

Ahring,

Bausell

et al. 2023

Nutrients

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“…Our results showed no differences in BMI z-scores over 6 months, which is consistent with findings from other cohorts of sapropterin treated patients [ 18 , 21 , 40 , 41 ]. However, two systematic reviews have shown that there was a trend for higher BMI in sapropterin treated patients [ 22 , 26 ]. The reasons for the increased BMI are unknown, but authors suggest that these changes could be associated with unhealthy food choices after an increase of natural protein in the diet.…”

Section: Discussionmentioning

confidence: 99%

“…It is commonly suggested that sapropterin treatment, by reducing dietary restrictions, may improve nutritional quality of the diet and promote growth. In parallel, it is expected to improve the quality of life and lessen the burden of care; this, in turn, is expected to have benefits on the mental health of patients and their caregivers [ 22 ]. However, very few studies have focused on the type and quality of protein given [ 23 , 24 ].…”

Section: Introductionmentioning

confidence: 99%

“…Additionally, there is a concern that with sapropterin treatment, discontinuing the protein substitute prescription may potentially leave patients at risk of nutritional imbalance, particularly if the quality of the natural protein intake is poor [ 25 ]. There is evidence from two systematic reviews that sapropterin treated cohorts have a higher BMI when compared to non-sapropterin treated groups [ 22 , 26 ]. However, there is very little information about how sapropterin may alter mental health status for patients or caregivers or its impact on the burden of care.…”

Section: Introductionmentioning

confidence: 99%

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Impact on Diet Quality and Burden of Care in Sapropterin Dihydrochloride Use in Children with Phenylketonuria: A 6 Month Follow-Up Report

Gama,

Daly,

Ashmore

et al. 2023

Nutrients

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Introduction: In phenylketonuria (PKU) changes in dietary patterns and behaviors in sapropterin-responsive populations have not been widely reported. We aimed to assess changes in food quality, mental health and burden of care in a paediatric PKU sapropterin-responsive cohort. Methods: In an observational, longitudinal study, patient questionnaires on food frequency, neophobia, anxiety and depression, impact on family and burden of care were applied at baseline, 3 and 6-months post successful sapropterin-responsiveness testing (defined as a 30% reduction in blood phenylalanine levels). Results: 17 children (10.8 ± 4.2 years) completed 6-months follow-up. Patients body mass index (BMI) z-scores remained unchanged after sapropterin initiation. Blood phenylalanine was stable. Natural protein increased (p < 0.001) and protein substitute intake decreased (p = 0.002). There were increases in regular cow’s milk (p = 0.001), meat/fish, eggs (p = 0.005), bread (p = 0.01) and pasta (p = 0.011) intakes but special low-protein foods intake decreased. Anxiety (p = 0.016) and depression (p = 0.022) decreased in caregivers. The impact-on-family, familial-social impact (p = 0.002) and personal strain (p = 0.001) lessened. After sapropterin, caregivers spent less time on PKU tasks, the majority ate meals outside the home more regularly and fewer caregivers had to deny food choices to their children. Conclusion: There were significant positive changes in food patterns, behaviors and burden of care in children with PKU and their families after 6-months on sapropterin treatment.

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Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria

Whitehall,

Rose,

Clague

et al. 2024

Orphanet J Rare Dis

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Background Phenylketonuria (PKU) is an inborn error of phenylalanine (Phe) metabolism that, if untreated, causes Phe accumulation in the brain leading to neurophysiologic alterations and poor outcomes. Lifelong management centers on dietary Phe restriction, yet long-term complete metabolic control is unachievable for many adults. High blood Phe levels or chronic Phe and intact protein restriction in the diet may lead to somatic comorbidities. A systematic literature review was conducted to evaluate somatic comorbidities experienced by adults with PKU. Methods Clinical and observational studies reporting somatic comorbidities experienced by individuals with PKU aged ≥ 16 years (or classified as adults) evaluating a Phe-restricted diet with or without pharmacologic therapy versus no therapeutic intervention (including healthy controls), or pharmacologic therapy versus a Phe-restricted diet alone, were identified. PubMed® was searched (February 1, 2022 and updated November 1, 2023), using a pre-defined search strategy, followed by two-stage screening and data extraction. Included studies were grouped by PKU population comparison. Results 1185 records were screened; 51 studies across 12,602 individuals were extracted. Bone-related abnormalities were the most reported outcome (n = 21); several outcome measures were used. Original study groupings included: Phe-restricted diet versus healthy controls or reference values (n = 40); treatment-adherent versus those non-adherent (n = 12). Additional groups added as part of a protocol amendment included: different Phe-restricted diets (n = 4); severe versus less severe disease (n = 5). Vote counting indicated a higher burden of ≥ 1 comorbidity (or outcome measure) for the Phe-restricted diet group by 37 of 38 studies included in the analysis of Phe-restricted diet versus healthy controls; higher burden in healthy controls was reported in 12 studies. Vote counting was similar between those treatment adherent (n = 7) versus non-adherent (n = 10). Conclusions Adults with PKU have a higher comorbidity burden than a non-PKU population. More robust studies are needed to better understand the relationship between effective metabolic control and comorbidity burden, using consistent outcome measures. This SLR was supported by BioMarin Pharmaceutical Inc., Novato, CA, and is registered with the Research Registry (reviewregistry1476).

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Dietary Liberalization in Tetrahydrobiopterin-Treated PKU Patients: Does It Improve Outcomes?

Cited by 4 publications

References 45 publications

Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria

Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria

Impact on Diet Quality and Burden of Care in Sapropterin Dihydrochloride Use in Children with Phenylketonuria: A 6 Month Follow-Up Report

Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria

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