| Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses. | |
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MedLine Citation:
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PMID: 20123477 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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M J de Groot; M Hoeksma; N Blau; D J Reijngoud; F J van Spronsen |
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Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Molecular genetics and metabolism Volume: 99 Suppl 1 ISSN: 1096-7206 ISO Abbreviation: Mol. Genet. Metab. Publication Date: 2010 |
Date Detail:
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Created Date: 2010-02-03 Completed Date: 2010-06-01 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9805456 Medline TA: Mol Genet Metab Country: United States |
Other Details:
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Languages: eng Pagination: S86-9 Citation Subset: IM |
Copyright Information:
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Copyright 2009 Elsevier Inc. All rights reserved. |
Affiliation:
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Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acids, Neutral
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metabolism Blood-Brain Barrier Cognition Disorders / complications* Humans Phenylketonurias / complications*, diet therapy |
| Chemical | |
Reg. No./Substance:
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0/Amino Acids, Neutral |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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