| Phenylketonuria. | |
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MedLine Citation:
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PMID: 20971365 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It results from mutations in the phenylalanine hydroxylase gene. Phenotypes can vary from a very mild increase in blood phenylalanine concentrations to a severe classic phenotype with pronounced hyperphenylalaninaemia, which, if untreated, results in profound and irreversible mental disability. Neonatal screening programmes identify individuals with phenylketonuria. The initiation of a phenylalanine-restricted diet very soon after birth prevents most of the neuropsychological complications. However, the diet is difficult to maintain and compliance is often poor, especially in adolescents, young adults, and pregnant women. Tetrahydrobiopterin stimulates phenylalanine hydroxylase activity in about 20% of patients, and in those patients serves as a useful adjunct to the phenylalanine-restricted diet because it increases phenylalanine tolerance and allows some dietary freedom. Possible future treatments include enzyme substitution with phenylalanine ammonia lyase, which degrades phenylalanine, and gene therapy to restore phenylalanine hydroxylase activity. |
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Authors:
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Nenad Blau; Francjan J van Spronsen; Harvey L Levy |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Lancet Volume: 376 ISSN: 1474-547X ISO Abbreviation: Lancet Publication Date: 2010 Oct |
Date Detail:
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Created Date: 2010-10-25 Completed Date: 2010-11-04 Revised Date: 2011-02-18 |
Medline Journal Info:
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Nlm Unique ID: 2985213R Medline TA: Lancet Country: England |
Other Details:
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Languages: eng Pagination: 1417-27 Citation Subset: AIM; IM |
Copyright Information:
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Copyright © 2010 Elsevier Ltd. All rights reserved. |
Affiliation:
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Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zurich, Switzerland. nenad.blau@kispi.uzh.ch |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Female Humans Infant, Newborn Mental Retardation / etiology, prevention & control Neonatal Screening Phenylketonurias* / complications, diagnosis, prevention & control, therapy Pregnancy Pregnancy Complications / diet therapy |
| Comments/Corrections | |
Comment In:
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Lancet. 2011 Feb 5;377(9764):465; author reply 466
[PMID:
21296231
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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