| Phenylketonuria: a 21st century perspective. | |
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MedLine Citation:
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PMID: 20720592 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Phenylketonuria is the most prevalent inherited defect in amino acid metabolism. Owing to mutations in the gene encoding the enzyme phenylalanine hydroxylase, the essential amino acid phenylalanine cannot be hydroxylated to tyrosine and blood and tissue concentrations of phenylalanine increase. Untreated, phenylketonuria causes severe mental retardation, epilepsy and behavioral problems. The combined effect of neonatal screening and treatment has, however, meant that phenylketonuria is now a biochemical rather than a clinical diagnosis. Treatment consists of stringent dietary restriction of natural protein intake and supplementation of amino acids other than phenylalanine by a chemically manufactured protein substitute. Although clinical outcome on a phenylalanine-restricted diet is good, neuropsychological deficits are now known to exist in dietary-treated patients with phenylketonuria, and quality of life, nutritional condition and psychosocial outcome could probably also be improved. The need for new therapeutic approaches is being met by supplementation with tetrahydrobiopterin or large neutral amino acids, whilst development of the use of phenylalanine ammonia lyase, and, in the longer term, gene therapy and chaperone treatment holds promise. This Review provides an overview of the history of phenylketonuria, the challenges of treatment today and the treatment possibilities in the near future. |
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Authors:
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Francjan J van Spronsen |
Publication Detail:
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Type: Historical Article; Journal Article; Review |
Journal Detail:
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Title: Nature reviews. Endocrinology Volume: 6 ISSN: 1759-5037 ISO Abbreviation: Nat Rev Endocrinol Publication Date: 2010 Sep |
Date Detail:
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Created Date: 2010-08-19 Completed Date: 2010-12-15 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101500078 Medline TA: Nat Rev Endocrinol Country: England |
Other Details:
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Languages: eng Pagination: 509-14 Citation Subset: IM |
Affiliation:
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Beatrix Children's Hospital, University Medical Center of Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands. f.j.van.spronsen@bkk.umcg.nl |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Diet Therapy
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methods Endocrinology / history, methods, trends* History, 21st Century Humans Infant, Newborn Models, Biological Neonatal Screening Phenylketonurias / diagnosis, etiology*, therapy* Practice Guidelines as Topic Treatment Outcome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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