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Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-38727

de Groot, M J; Hoeksma, M; Blau, N; Reijngoud, D J; van Spronsen, F J (2010). Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses. Molecular Genetics and Metabolism, 99(Sup 1):S86-S89.

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In untreated phenylketonuria (PKU), deficiency of phenylalanine hydroxylase (PAH) results in elevated blood phenylalanine (Phe) concentrations and severe mental retardation. Current dietary treatment prevents mental retardation, but cognitive outcome remains suboptimal. The mechanisms by which elevated blood Phe concentrations disturb cerebral metabolism and cognitive function have not been fully elucidated. In this review, we discuss different hypotheses on the pathogenesis of PKU, focusing on the effects of disturbed large neutral amino acid (LNAA) transport from blood to brain on cerebral neurotransmitter and protein synthesis. Although the definitive roles of these processes in PKU pathogenesis are not fully understood yet, both substantially influence clinical outcome.


39 citations in Web of Science®
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Additional indexing

Item Type:Journal Article, refereed, further contribution
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Deposited On:14 Jan 2011 16:20
Last Modified:27 Nov 2013 19:25
Publisher DOI:10.1016/j.ymgme.2009.10.016
PubMed ID:20123477

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