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Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-36071

Feillet, F; van Spronsen, F J; MacDonald, A; Trefz, F K; Demirkol, M; Giovannini, M; Bélanger-Quintana, A; Blau, N (2010). Challenges and pitfalls in the management of phenylketonuria. Pediatrics, 126(2):333-341.

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Despite recent advances in the management of phenylketonuria and hyperphenylalaninemia, important questions on the management of this disorder remain unanswered. Consensus exists on the need for neonatal screening and early treatment, yet disagreement persists over threshold levels of blood phenylalanine for starting treatment, target blood phenylalanine levels, and the management of older patient groups. The mainstay of treatment is a phenylalanine-restricted diet, but its application varies between and within countries. Beyond diet treatment, there is a lack of consensus on the use of newer treatments such as tetrahydrobiopterin. Although neonatal screening and early treatment has meant that most well-treated children grow up with near-normal IQ scores, the effect of relaxing metabolic control on cognitive and executive function later in life is still not fully understood. Although it is clear from the available literature that the active control of blood phenylalanine levels is of vital importance, there are other treatment-related factors that affect outcome. A uniform and firmly evidence-based approach to the management of phenylketonuria is required.


30 citations in Web of Science®
35 citations in Scopus®
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Additional indexing

Item Type:Journal Article, refereed, further contribution
Communities & Collections:04 Faculty of Medicine > Center for Integrative Human Physiology
04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Date:August 2010
Deposited On:12 Nov 2010 13:41
Last Modified:05 Apr 2016 14:15
Publisher:American Academy of Pediatrics
Publisher DOI:10.1542/peds.2009-3584
PubMed ID:20624808

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