The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria

Bosch, Annet M.; Tybout, W.; Spronsen, Francjan J. van; Valk, Harold W. de; Wijburg, Frits A.; Grootenhuis, Martha A.

doi:10.1007/s10545-006-0433-6

Cited by 70 publications

(79 citation statements)

References 21 publications

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“…[44][45][46][47][48][49] These later effects can be disabling and can result in a lower overall level of educational attainment and socioeconomic status. 50,51 Furthermore, these symptoms make it increasingly difficult for a patient with PAH deficiency to return to metabolic control, since adherence to treatment requires tasks such as planning and organization that rely on intact executive functioning abilities. Therefore, it is recommended that patients be maintained in metabolic control as they move into adulthood.…”

Section: Treatment For Lifementioning

confidence: 99%

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

Vockley

Andersson

Antshel

et al. 2014

Genetics in Medicine

528

443

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Phenylalanine hydroxylase (PAH) deficiency, traditionally called phenylketonuria (PKU) due to characteristic phenylketones accumulating in the urine of affected individuals, has a significant place in history as the first inborn error of metabolism identified through population-based screening, initiating a new era in the diagnosis and treatment of genetic disorders. PKU was first described in 1934 by the Norwegian physician Asbjörn Fölling, but it was not until the mid-1950s that a patient with PAH deficiency was treated with a low phenylalanine (PHE) diet. Although this first patient already had irreversible Phenylalanine hydroxylase deficiency, traditionally known as phenylketonuria, results in the accumulation of phenylalanine in the blood of affected individuals and was the first inborn error of metabolism to be identified through population screening. Early identification and treatment prevent the most dramatic clinical sequelae of the disorder, but new neurodevelopmental and psychological problems have emerged in individuals treated from birth. The additional unanticipated recognition of a toxic effect of elevated maternal phenylalanine on fetal development has added to a general call in the field for treatment for life. Two major conferences sponsored by the National Institutes of Health held >10 years apart reviewed the state of knowledge in the field of phenylalanine hydroxylase deficiency, but there are no generally accepted recommendations for therapy. The purpose of this guideline is to review the strength of the medical literature relative to the treatment of phenylalanine hydroxylase deficiency and to develop recommendations for diagnosis and therapy of this disorder. Evidence review from the original National Institutes of Health consensus conference and a recent update by the Agency for Healthcare Research and Quality was used to address key questions in the diagnosis and treatment of phenylalanine hydroxylase deficiency by a working group established by the American College of Medical Genetics and Genomics. The group met by phone and in person over the course of a year to review these reports, develop recommendations, and identify key gaps in our knowledge of this disorder.Above all, treatment of phenylalanine hydroxylase deficiency must be life long, with a goal of maintaining blood phenylalanine in the range of 120-360 µmol/l. Treatment has predominantly been dietary manipulation, and use of low protein and phenylalanine medical foods is likely to remain a major component of therapy for the immediate future. Pharmacotherapy for phenylalanine hydroxylase deficiency is in early stages with one approved medication (sapropterin, a derivative of the natural cofactor of phenylalanine hydroxylase) and others under development. Eventually, treatment of phenylalanine hydroxylase deficiency will be individualized with multiple medications and alternative medical foods available to tailor therapy. The primary goal of therapy should be to lower blood phenylalanine, and any interventions, including medica...

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Section: Treatment For Lifementioning

confidence: 99%

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

Vockley

Andersson

Antshel

et al. 2014

Genetics in Medicine

528

443

View full text Add to dashboard Cite

show abstract

“…Some previous studies showed differences in respect to final educational attainments (Stemerdink et al 2000, Gassió et al 2005), on the other hand a recent Dutch study found no difference between final educational attainments of patients with PKU and the control population (Bosch et al 2007). In our study we could demonstrate that only 4% of our patients had no school certificate, in comparison to 11% of the control population in Leipzig.…”

Section: Respondersmentioning

confidence: 87%

“…Due to PAH deficiency phenylalanine accumulates in body and brain. Untreated PKU patients suffer from severe physical and mental disability (Bosch et al 2007;Scriver et al 1998). Postnatal diagnosis by newborn screening, early treatment with protein restricted diet and substitution of a phenylalanine free amino acid mixture result in a normal cognitive development (Scriver et al 1998;Bremer et al 1997;National Institute of Health Consensus Development 2005).…”

mentioning

confidence: 99%

Transition of young adults with phenylketonuria from pediatric to adult care

Mütze

Roth

Weigel

et al. 2011

J of Inher Metab Disea

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Transition of patients with PKU from pediatric to adult care seems to be successful in Leipzig. Patients were mostly satisfied with the transition situation. Still, some suggestions for improvements appeared to be desirable. During transition medical care and metabolic control were stable. However, with regard to psychosocial and socioeconomic data differences to the control population were detected.

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“…Regarding the evaluation of quality of life (QOL), Enns et al described contrasting results. Out of six studies reviewed, two presented optimal outcomes, i.e., QOL comparable to normal controls [17, 18] and four reported suboptimal results [19–22]. However, more recent studies (published after Enns et al’s review) suggest that the QOL of patients with PKU is often comparable to that of the general population [23–27].…”

Section: Introductionmentioning

confidence: 99%

Development of the US English version of the phenylketonuria – quality of life (PKU-QOL) questionnaire

Jurecki

Cunningham

Birardi

et al. 2017

Health Qual Life Outcomes

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BackgroundPhenylketonuria (PKU) is a rare genetic disorder caused by a defect in the metabolism of phenylalanine (PHE) resulting in elevated blood and brain PHE levels, and leading to cognitive, emotional, and psychosocial problems. The phenylketonuria – quality of life (PKU-QOL) questionnaire was the first self-administered disease-specific instrument developed to assess the impact of PKU and its treatment on the health-related quality of life (HRQL) of patients and their caregivers. Available in four versions (child, adolescent, adult and parent), the PKU-QOL was simultaneously developed and validated in seven countries [i.e., France, Germany, Italy, The Netherlands, Spain, Turkey and the United Kingdom (UK)]. The objectives of our study were to develop and linguistically validate the PKU-QOL questionnaire for use in the United States (US).MethodsThe UK versions served as a basis for the development of the US English PKU-QOL questionnaire. The linguistic validation process consisted of 4 steps: 1) adaptation of the UK versions into US English by a translator native of US English and living in the US; 2) a clinician review; 3) cognitive interviews with patients and caregivers to test the appropriateness, understandability and clarity of the US translations; and 4) two proof-readings.ResultsThe adaptation from UK to US English revealed the usual syntactic and idiomatic differences between the two languages, such as differences in: 1) Spelling, e.g., “dietician” (UK) vs. “dietitian” (US), or “mum” (UK) vs. “mom” (US); 2) Syntax or punctuation; and 3) Words/expressions use, e.g., “holidays” (UK) vs. “vacation” (US), or “biscuits” (UK) vs. “crackers” (US). The major issue was cultural, and consisted of using a different terminology to describe PKU treatment throughout the questionnaires. The clinician, with the patients and the caregivers, during the interviews suggested to replace “supplement and amino-acid mixture” or “supplements” with “medical formula.” This wording was later changed to “medical food” to be consistent with the terminology used in current US published guidelines.ConclusionsThe translation of the UK English PKU-QOL questionnaire into US English did not raise critical semantic and cultural issues. The PKU-QOL will be valuable for US healthcare providers in individualizing treatment and managing patients with PKU.

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The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria

Cited by 70 publications

References 21 publications

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

Transition of young adults with phenylketonuria from pediatric to adult care

Development of the US English version of the phenylketonuria – quality of life (PKU-QOL) questionnaire

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