Retrospective, observational data collection of the treatment of phenylketonuria in the UK, and associated clinical and health outcomes

MacDonald, Anita; Nanuwa, K.; Parkes, Laura M.; Nathan, Miriam; Chauhan, Deven

doi:10.1185/03007995.2011.576237

Cited by 12 publications

(8 citation statements)

References 24 publications

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“…Even at a center that managed the transition successfully, not all adult PKU patients were adequately controlled [ 26 ]. Also the failure to find differences between genders is consistent with previous findings [ 9 , 24 ].…”

Section: Discussionsupporting

confidence: 92%

“…Their claims were supported by phenylalanine plasma concentration data: nearly half of them reported a high plasma value over the last 6 months (>600 μmol/L, 48%) or were unable to specify it (31%). This is consistent with the recent findings of the systematic review by Medford (2017) including 29 articles representing 1784 PKU patients of all ages, who found that the main factor associated with worsening of metabolic control was age [ 9 ], as well as a less recent retrospective chart review related to 125 PKU patients that showed that the proportion of adequately controlled subjects diminished considerably after the age of 18 (39% vs 57% between the age of 6 and 17 years) [ 24 ] and general claims in reviews on PKU in the literature [ 25 ]. Increasing age usually involves the transition from a pediatric to an adult setting.…”

Section: Discussionsupporting

confidence: 87%

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Living with phenylketonuria in adulthood: The PKU ATTITUDE study

Cazzorla

Bensi

Biasucci

et al. 2018

Molecular Genetics and Metabolism Reports

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Dietary treatment is the cornerstone of therapy for phenylketonuria (PKU), but adherence to low- phenylalanine diet progressively decreases after adolescence. We designed a survey to characterize the dietary habits of Italian adult PKU patients and to identify psychological factors influencing disease perception and adherence to diet. Participants to the survey (n = 111; response rate 94%) were asked to complete a structured questionnaire. Patients appeared to have an altered perception and awareness of the disease. About 40% of them did not consider PKU a disease and, despite declaring regular monitoring of phenylalanine levels (85%), nearly half of them reported a high plasma value over the last 6 months (>600 μmol/L, 48%) or were unable to specify it (31%). Adherence to PKU diet was unsatisfactory, with increased consumption of natural protein sources and reduced daily use of amino-acid supplements (<4–5 times/day in 82% patients). In addition to the intrinsic characteristics of AA formula (palatability, ease of use), the most important factor influencing their consumption was the increased social pressure associated with their use (55%). Plasma phenylalanine periodical measurements (61%) and examinations at metabolic centers (49%) were considered relevant for compliance to diet. In Italian adult PKU patients dietary management was found to be inadequate, likely due to inappropriate perception and knowledge of the disease, and lack of awareness of the negative impact of poor metabolic control in adult life. Clinicians should consider implementing more intense and tailored educational measures, as well as structured transitional care processes.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionsupporting

confidence: 87%

Living with phenylketonuria in adulthood: The PKU ATTITUDE study

Cazzorla

Bensi

Biasucci

et al. 2018

Molecular Genetics and Metabolism Reports

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“…Following age, the next most reproducible factor was child sex, with six studies indicating no association with sex and one study finding that more females had 70% or more of their phe levels within target range than males (MacDonald et al 2011). In this study, the endpoint measure of 70% or more levels within target range might have allowed greater sensitivity with regard to identifying more subtle differences in metabolic control between males and females.…”

Section: Discussionmentioning

confidence: 77%

Demographic and Psychosocial Influences on Treatment Adherence for Children and Adolescents with PKU: A Systematic Review

2017

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Phenylketonuria (PKU) is a rare genetic disorder in which the amino acid phenylalanine cannot be sufficiently metabolised. Although a build-up of phenylalanine causes irreversible cognitive impairment, this can be prevented through a strict, lifelong diet restricted in natural protein. Despite the severe consequences of poor metabolic control, many children and adolescents have phenylalanine levels above their recommended limits. This systematic review was the first to examine studies reporting demographic and/or psychosocial influences on blood phenylalanine levels, with the aim to identify factors that were robustly linked with metabolic control. Four electronic databases were searched, yielding 1,808 articles. Articles were included if they reported a statistical examination of the association between one or more demographic or psychosocial factor(s) and metabolic control (as measured by blood phenylalanine concentration) for children and adolescents with PKU. Twenty-nine studies were selected for inclusion, which examined a range of child, parent and family factors related to blood phenylalanine levels. The most reproducible association was with child age, with metabolic control worsening with increasing age. This suggests that interventions promoting treatment adherence would be particularly beneficial for adolescents. There was a paucity of studies in some areas, and the quality of included studies varied; therefore, the conclusions of this review are preliminary. Research recommendations focus on promoting the growth of the evidence-base to support clinical practice.

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“…The available evidence indicated that strict adherence to diet therapy is very difficult or impossible in a high percentage of patients (variable, but approximately 35-50%); the recommended metabolic control is not achieved, thus resulting in a significant impact on cognitive functions. More than 50% of these patients have blood Phe values > 600 µmol/L [10][11][12][13][14][15][16].…”

Section: Literature Analysismentioning

confidence: 99%

The management of phenylketonuria in adult patients in Italy: a survey of six specialist metabolic centers

Burlina

Leuzzi

Spada

et al. 2021

Current Medical Research and Opinion

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currently works for Danone, the owner of Nutricia, which produces specialised nutrition products including those intended for the dietary management of PKU. The remaining reviewers have no relevant financial relationships or otherwise to disclose. Author contributions All authors have made substantial intellectual contributions to the conception of the survey and the analysis and interpretation of the data. They have all been involved in drafting the manuscript and revising it critically for important intellectual content.

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Retrospective, observational data collection of the treatment of phenylketonuria in the UK, and associated clinical and health outcomes

Cited by 12 publications

References 24 publications

Living with phenylketonuria in adulthood: The PKU ATTITUDE study

Living with phenylketonuria in adulthood: The PKU ATTITUDE study

Demographic and Psychosocial Influences on Treatment Adherence for Children and Adolescents with PKU: A Systematic Review

The management of phenylketonuria in adult patients in Italy: a survey of six specialist metabolic centers

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