Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach

Burton, Barbara K.; Hermida, Alvaro; Bélanger-Quintana, Amaya; Bell, Heather; Bjoraker, Kendra; Christ, Shawn E.; Grant, Mitzie; Harding, Cary O.; Huijbregts, Stephan C. J.; Longo, Nicola; McNutt, Markey C.; Nguyen-Driver, Mina; Pessoa, André Luiz Santos; Rocha, Júlio César; Sacharow, Stephanie; Sanchez‐Valle, Amarilis; Sivri, Hatice Serap; Vockley, Jerry; Walterfang, Mark; Whittle, Sarah; Muntau, Ania C.

doi:10.1016/j.ymgme.2022.07.012

Cited by 8 publications

(11 citation statements)

References 90 publications

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“…However, in some studies, the relationship between biochemical markers and neuropsychological symptoms was not significant [ 95 , 96 , 97 ]. In addition to blood Phe, the burden of living with a chronic and rare metabolic condition requiring lifelong management and routine follow-up can contribute to the development of internalised problems (i.e., symptoms that are directed inward and experienced within the individual) that can be addressed by involving mental health providers in PKU care [ 98 , 99 , 100 ]. Similarities in terms of depressive mood, anxiety and social isolation have been reported between PKU and other chronic metabolic conditions, including diabetes [ 99 ].…”

Section: Resultsmentioning

confidence: 99%

“…Currently, home Phe-monitoring systems are still in development [ 101 ]. When available, such a system may increase patient self-empowerment regardless of therapeutic management [ 100 , 101 ].…”

Section: Resultsmentioning

confidence: 99%

“…In particular, patients who attempt to adhere to MNT but fail to achieve metabolic control can experience pressure from the metabolic team and treatment environment, triggering disordered eating behaviours and attitudes [ 125 ]. However, the lack of PKU-specific eating disorder questionnaires currently limits the identification and assessment of disordered eating behaviours in PKU [ 100 ]. When developing these assessments, it should be considered that patients may perceive their restrictive dietary habits as normal (e.g., daily intake of the same food) and that the prevalence of disordered eating in PKU can be underreported due the fact that patients become accustomed to living with unhealthy eating habits.…”

Section: Resultsmentioning

confidence: 99%

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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%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

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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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“…The reasons behind the high frequency of excess weight and obesity in females with PKU remain unclear but might be related to the reportedly higher frequency of eating disorders in females [ 40 ]. A few studies have addressed the prevalence of disordered eating in PKU patients [ 41 , 42 ], and the European Guidelines for PKU as well as a recently published international consensus contain explicit warnings about the possible occurrence of eating disorders [ 43 , 44 ]. However, data on eating disorders in PKU adults are scarce [ 45 ] and deserve to be explored better [ 2 ].…”

Section: Discussionmentioning

confidence: 99%

Overweight and obesity in adult patients with phenylketonuria: a systematic review

Tankeu

Pavlidou

Superti‐Furga

et al. 2023

Orphanet J Rare Dis

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Background Excess weight is a rising concern in patients with phenylketonuria (PKU). It is commonly observed in children and adolescents with PKU; but data on adults are inconsistent. This review aims to summarize available data on excess weight in adult PKU individuals. Methods We conducted a systematic search of literature in English, from inception to October 2021, on PubMed and Embase to identify articles on overweight and obesity in adult PKU patients. Prevalence of overweight and obesity, body mass index (BMI) and gender differences were the outcomes of interest. Results Of 260 articles identified, only 8 fulfilled quality criteria for inclusion after screening of titles, abstracts and full texts. The mean BMI of adult PKU patients in these studies ranged from 26 ± 5.4 to 30.3 ± 1.8 kg/m2. When compared to matched controls, adult PKU patients had higher BMI and higher prevalence of obesity. However, results were inconsistent when PKU adults were compared to the general population. The prevalence of obesity in the included studies varied widely between 4.5% up to 72% in individual studies. Obesity was 2–3 times more frequent in female PKU patients. Conclusions Excess weight is frequent in adult PKU patients, especially in females, even if the difference with the general population is debatable. The heterogeneity of the studies makes it difficult to interpret the results and the factors that contribute to obesity. Content of the diet, psychological status, diet-associated disordered eating, patient’s social environment and lifestyle are listed as potentials contributors to excess weight in PKU adult population. Further studies are needed to better elucidate this question. In the meantime, weight control and healthy eating habits should be considered in the management and follow-up of these patients.

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“…In addition, AwPKU who have been exposed to high blood Phe often experience impairment in neurocognition that can further complicate the completion of self-assessments [82]. Therefore, it is recommended to combine these assessments with more objective performancebased tasks, such as the index finger tapping rate and Archimedes spiral [83]. Advanced imaging can also be considered to understand the disease progression, though the severity of neurological signs and symptoms do not always correlate with the extent of white matter abnormalities [15, 17-19, 24, 29, 38, 42, 43].…”

Section: Discussionmentioning

confidence: 99%

Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria: literature review and expert opinion

et al. 2023

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Objective Phenylketonuria (PKU) is a rare inherited metabolic disorder characterised by elevated phenylalanine (Phe) concentrations that can exert neurotoxic effects if untreated or upon treatment discontinuation. This systematic review supported by expert opinion aims to raise awareness among the neurological community on neurological complications experienced by adults with PKU (AwPKU). Methods The PubMed database was searched for articles on neurological signs and symptoms in AwPKU published before March 2022. In addition, two virtual advisory boards were held with a panel of seven neurologists and two metabolic physicians from Germany and Austria. Findings are supported by three illustrative patient cases. Results Thirty-nine articles were included. Despite early diagnosis and treatment, neurological signs and symptoms (e.g. ataxia, brisk tendon reflexes, tremor, visual impairment) can emerge in adulthood, especially if treatment has been discontinued after childhood. In PKU, late-onset neurological deficits often co-occur with cognitive impairment and psychiatric symptoms, all of which can be completely or partially reversed through resumption of treatment. Conclusion Ideally, neurologists should be part of the PKU multidisciplinary team, either to bring lost to follow-up patients back to clinic or to manage symptoms in referred patients, considering that symptoms are often reversible upon regaining metabolic control. The current findings have been combined in a leaflet that will be disseminated among neurologists in Germany and Austria to create awareness.

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Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach

Cited by 8 publications

References 90 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

Overweight and obesity in adult patients with phenylketonuria: a systematic review

Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria: literature review and expert opinion

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