Use of sapropterin in the management of phenylketonuria: Seven case reports

Özel, Hülya Gökmen; Lammardo, A. M.; Motzfeldt, K.; Robert, M.; Rocha, Júlio César; Rijn, M. van; Ahring, Kirsten; Bélanger-Quintana, Amaya; MacDonald, Anita; Dokoupil, Katharina

doi:10.1016/j.ymgme.2012.11.012

Cited by 6 publications

(3 citation statements)

References 5 publications

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“…Treatment with sapropterin allows a subset of patients to broaden their diet to include more natural protein (some can tolerate a normal diet for the first time after starting sapropterin) and this may improve the quality of life of some patients [ 11 ]. Sapropterin treatment should be reimbursed when the importance of improving either metabolic control or decreasing the need of strictness in dietary treatment has been demonstrated.…”

Section: Methodsmentioning

confidence: 99%

“…Maintaining adequate adherence to this diet is challenging, but effective in preventing the severe brain damage associated with uncontrolled blood phenylalanine, and allowing individuals with PKU to lead full and successful lives [ 5 , 7 - 9 ]. A pharmacologic treatment option, sapropterin, is available for prescription in a growing number of counties [ 10 , 11 ]. A number of other potential treatments that may contribute increasingly to the management of PKU in the future include better and more palatable phenylalanine-free foods, glycomacropeptide (a natural protein free of phenylalanine), large, neutral amino acids, phenylalanine-ammonia lyase (an injectable enzyme that metabolises phenylalanine) and – for the longer term – gene therapy approaches; these have been reviewed elsewhere [ 12 ].…”

Section: Introductionmentioning

confidence: 99%

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Requirements for a minimum standard of care for phenylketonuria: the patients’ perspective

Hagedorn

Berkel²,

Hammerschmidt³

et al. 2013

Orphanet J Rare Dis

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Phenylketonuria (PKU, ORPHA716) is an inherited disorder that affects about one in every 10,000 children born in Europe. Early and continuous application of a modified diet is largely successful in preventing the devastating brain damage associated with untreated PKU. The management of PKU is inconsistent: there are few national guidelines, and these tend to be incomplete and implemented sporadically. In this article, the first-ever pan- European patient/carer perspective on optimal PKU care, the European Society for Phenylketonuria and Allied Disorders (E.S.PKU) proposes recommendations for a minimum standard of care for PKU, to underpin the development of new pan-European guideline for the management of PKU. New standards of best practice should guarantee equal access to screening, treatment and monitoring throughout Europe. Screening protocols and interpretation of screening results should be standardised. Experienced Centres of Expertise are required, in line with current European Union policy, to guarantee a defined standard of multidisciplinary treatment and care for all medical and social aspects of PKU. Women of childbearing age require especially intensive management, due to the risk of severe risks to the foetus conferred by uncontrolled PKU. All aspects of treatment should be reimbursed to ensure uniform access across Europe to guideline-driven, evidence-based care. The E.S.PKU urges PKU healthcare professionals caring for people with PKU to take the lead in developing evidence based guidelines on PKU, while continuing to play an active role in serving as the voice of patients and their families, whose lives are affected by the condition.

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Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Requirements for a minimum standard of care for phenylketonuria: the patients’ perspective

Hagedorn

Berkel²,

Hammerschmidt³

et al. 2013

Orphanet J Rare Dis

View full text Add to dashboard Cite

show abstract

“…Although some patients were afraid to introduce high-protein foods into their daily routine, others enjoyed their taste. 22 We cannot rule out the negative psychological consequences on feeding behavior of giving additional NP and then withdrawing it again from nonresponders. The difficulty and disappointment in returning to their previous dietary restrictions should not be underestimated in nonresponders.…”

Section: Discussionmentioning

confidence: 99%

Metabolic Control in Patients With Phenylketonuria Pre- and Post-Sapropterin Loading Test

Barbosa¹,

Almeida

Sousa³

et al. 2018

Journal of Inborn Errors of Metabolism and Screening

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In Portugal, tetrahydrobiopterin (BH4)-responsive patients with phenylketonuria (PKU) are identified using a loading test (LT). Phenylalanine/natural protein (Phe/NP) intake is increased to elevate blood Phe prior to the LT. In a longitudinal retrospective study, the impact of Phe/NP titration post-LT in 58 patients (19.6 + 8.2 years) with PKU during 4 study periods (SPs) was examined. In SP1 (2010-2013), patients were diet treated only; in SP2 (2014), the Phe/NP titration was followed by the LT in SP3 (2015). In SP4 (2016), patients received diet treatment only (n ¼ 49) or BH4 þ diet (n ¼ 9). The median percentage blood Phe within the target range was higher in SP1 versus SP4 (64 [28-85] vs 45 [0-66]; P < .001). Our results suggest that transient Phe/NP titration, associated with a deliberate increase in NP, may adversely affect metabolic control. Controlled studies are necessary to examine the longer term impact of temporary increased NP with BH4 LT in non-BH4-responsive patients.

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Late-diagnosed phenylketonuria mimicking x-linked adrenoleukodystrophy with heterozygous mutations of the PAH Gene: A case report and literature review

Liu

Dong

2018

Clinical Neurology and Neurosurgery

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Use of sapropterin in the management of phenylketonuria: Seven case reports

Cited by 6 publications

References 5 publications

Requirements for a minimum standard of care for phenylketonuria: the patients’ perspective

Requirements for a minimum standard of care for phenylketonuria: the patients’ perspective

Metabolic Control in Patients With Phenylketonuria Pre- and Post-Sapropterin Loading Test

Late-diagnosed phenylketonuria mimicking x-linked adrenoleukodystrophy with heterozygous mutations of the PAH Gene: A case report and literature review

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