Dietary interventions for phenylketonuria

Poustie, Vanessa; Wildgoose, Joanne

doi:10.1002/14651858.cd001304.pub2

Cited by 22 publications

(16 citation statements)

References 39 publications

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“…Dietary treatment of PKU is achieved via a low-Phe diet that severely restricts the intake of natural protein in order to achieve control of blood Phe concentrations [12], [13]. The low-Phe diet includes food that is naturally low in protein, such as fruit, some vegetables, fats and oils, as well as specially formulated low-protein products, such as low-protein flour, pastas and bread.…”

Section: Introductionmentioning

confidence: 99%

The personal burden for caregivers of children with phenylketonuria: A cross-sectional study investigating time burden and costs in the UK

MacDonald

Smith²,

Silva³

et al. 2016

Molecular Genetics and Metabolism Reports

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IntroductionManagement of phenylketonuria (PKU) is mainly achieved through strict dietary control that aims to limit the intake of phenylalanine (Phe). Adherence to this diet is burdensome due to the need for specially prepared low-Phe meals and regular monitoring of Phe concentrations. A UK cross-sectional study was conducted to identify the personal time and monetary burden associated with aspects of the PKU lifestyle for caregivers of children (aged < 18 years) living with PKU.MethodsCaregivers of pediatric patients with PKU attending one of four specialist metabolic centers in the UK were invited to participate in a questionnaire-based survey that evaluated different aspects of PKU management that could potentially present out-of-pocket costs (OOPCs) or time burden. Medical clinicians/dieticians provided patient information on PKU severity and an assessment of blood Phe control.ResultsThe survey was completed by 114 caregivers of 106 children having mild or moderate (n = 45; 39%) or classical (n = 60; 53%) PKU (severity data missing for n = 1), among whom 8 (8%) and 87 (82%) reported poorly controlled and controlled blood Phe status, respectively; Phe control data were missing for 11 children. Dietary management of PKU incurred a median time burden of > 19 h per week. OOPCs were incurred via attendance at PKU events, PKU-related equipment, and extra holiday expenditure. 21% of caregivers reduced their working hours (median 18.5 h/week) to care for their child, with a further 24% leaving their paid jobs completely.Discussion and conclusionsDietary management of PKU is associated with a considerable time burden for caregivers of pediatric patients with PKU. A personal financial burden also arises from OOPCs and lost earnings.

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Section: Introductionmentioning

confidence: 99%

The personal burden for caregivers of children with phenylketonuria: A cross-sectional study investigating time burden and costs in the UK

MacDonald

Smith²,

Silva³

et al. 2016

Molecular Genetics and Metabolism Reports

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“…Therefore, for most individuals with PKU, the control of Phe levels requires a golden standard therapy that is based on lifelong Phe‐restricted diet. Patients with PKU have to eliminate high‐proteins foods and have to accept Phe‐free amino acid formula enriched with trace elements, vitamins, and minerals (Przyrembel and Bremer, 2000; Giovannini et al, 2007; Poustie and Wildgoose, 2010; Scriver and Kaufman, 2001). Recently, newer treatments for PKU are emerging and some are current available such as administration of tetrahydrobiopterin, glycomacropeptide, LNAA, phenylalanine ammonia lyase, etc ., (Blau et al, 2010).…”

Section: Introductionmentioning

confidence: 99%

Urinary biomarkers of oxidative stress and plasmatic inflammatory profile in phenylketonuric treated patients

Deon

Sitta²,

Faverzani³

et al. 2015

Intl J of Devlp Neuroscience

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Oxidative stress has been proposed as an important pathophysiologic feature of various inborn errors of metabolism, including phenylketonuria (PKU). Considering that there are few studies relating oxidative stress and inflammation directly in PKU disease, the aim of this study was to evaluate and correlate oxidative damage to biomolecules, antioxidant defenses, pro-inflammatory cytokines, phenylalanine (Phe) and its metabolites (phenyllactic acid--PLA and phenylacetic acid--PAA) levels in urine and plasma from patients with PKU under dietary treatment. We observed a marked increase of isoprostanes, which is a lipid peroxidation biomarker, in urine from these treated patients. Next, we demonstrated that protein oxidative damage, measured by di-tyrosine formation, was significantly increased in urine from PKU treated patients and that decreased urinary antioxidant capacity was also observed. Our findings concerning to the inflammatory cytokines interleukin-6 and interleukin-1β, both significantly increased in these patients, provide evidence that the pro-inflammatory state occurs. Besides, interleukin-1β was positively correlated with isoprostanes. We observed a negative correlation between interleukin-6 and interleukin-10, an anti-inflammatory cytokine. Di-tyrosine was positively correlated with Phe, which indicates oxidative damage to proteins, as well as with PAA. These findings may suggest that the protein damage may be induced by Phe and its metabolite PAA in PKU. Our results indicate that pro-oxidant and pro-inflammatory states occur and are, in part, correlated and protein oxidation seems to be induced by Phe and PPA in PKU patients.

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“…In general, the usual treatment goal is a blood Phe level of 120 to 360 mmol/L (National Institutes of Health 2001; Poustie and Wildgoose 2010). In addition to the lowPhe diet, patients replace nutrients that are absent in their restricted diet with Phe-free medical foods (Giovannini et al 2007).…”

Section: Introductionmentioning

confidence: 99%

A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria

Lindegren

Krishnaswami²,

Reimschisel

et al. 2012

JIMD Reports

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Context: Dietary management is the mainstay of effective treatment in PKU, but dietary restriction is difficult and additional treatment options are needed.Objective: To systematically review evidence regarding sapropterin (BH4) use as an adjunct to dietary restriction in individuals with PKU.Data Sources: Five databases including MEDLINE up to August 2011.Study Selection: Two reviewers independently assessed studies against predetermined inclusion/exclusion criteria.Data Extraction: Two reviewers independently extracted data regarding participant and intervention characteristics and outcomes and assigned overall quality and strength of evidence ratings based on predetermined criteria.Results: BH4 research includes two randomized controlled trials (RCTs) and three uncontrolled open-label trials. Phenylalanine (Phe) levels were reduced by at least 30 % in up to half of treated participants (32-50 %). In one RCT comparing placebo on likelihood of a 30 % reduction in Phe, 9 % of those on placebo achieved this effect, compared with 44 % of the treated group after 6 weeks. Phe tolerance and variability were improved in treated participants in studies assessing those outcomes. No comparative studies assessed long-term outcomes including cognitive effects, nutritional status, or quality of life.Conclusions: Adjuvant pharmacologic therapy has the potential to support individuals in achieving optimal Phe levels. BH4 has been shown to reduce Phe levels in some individuals, with significantly greater reductions seen in treated versus placebo groups. The strength of the evidence is moderate for short-term effects on reducing Phe in a subset of initially BH4-responsive individuals, moderate for a lack of significant harms, low for longerterm effects on cognition, and insufficient for all other outcomes.

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Dietary interventions for phenylketonuria

Abstract: Frankenburg 1973 {published data only} Frankenburg WK, Goldstein AD. Behavioural consequences of increased phenylalanine intake by phenylketonuric children: a pilot study describing a methodology.

Cited by 22 publications

References 39 publications

The personal burden for caregivers of children with phenylketonuria: A cross-sectional study investigating time burden and costs in the UK

The personal burden for caregivers of children with phenylketonuria: A cross-sectional study investigating time burden and costs in the UK

Urinary biomarkers of oxidative stress and plasmatic inflammatory profile in phenylketonuric treated patients

A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria

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