| Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterin. | |
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MedLine Citation:
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PMID: 17627389 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Tetrahydrobiopterin (BH4) is a co-factor that enhances the activity of other enzymes, and this co-factor level is found to be affected in phenylketonuria (PKU), an amino acid metabolism disorder. The present study was aimed at understanding the effect of BH4 on mutations in the regulatory domain of phenylalanine hydroxylase (PAH). Among 14 patients, 5 patients were classical PKU, 3 were atypical PKU, and 6 were mild PKU. All of these patients had at least one mutation in the regulatory domain. Patients were given 10 mg/kg BH4, and the response of blood phenylalanine (Phe) levels was monitored following treatment. The level of blood Phe decreased after BH4 treatment in all of the patients. These studies suggest that mutations in the regulatory domain also responded to BH4 even if the patient had classical PKU. |
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Authors:
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Lin Wang; Sankar Surendran; Kimberlee Michals-Matalon; Gita Bhatia; Susan Tanskley; Richard Koch; James Grady; Stephen K Tyring; Raymond C Stevens; Flemming Guttler; Reuben Matalon |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S. |
Journal Detail:
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Title: Genetic testing Volume: 11 ISSN: 1090-6576 ISO Abbreviation: Genet. Test. Publication Date: 2007 |
Date Detail:
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Created Date: 2007-07-13 Completed Date: 2007-09-06 Revised Date: 2007-12-03 |
Medline Journal Info:
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Nlm Unique ID: 9802546 Medline TA: Genet Test Country: United States |
Other Details:
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Languages: eng Pagination: 174-8 Citation Subset: IM |
Affiliation:
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Department of Molecular Biology, The Scripps Research Institute, La Jolla, California, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Amino Acid Substitution Biopterin / analogs & derivatives*, therapeutic use Child DNA Mutational Analysis Humans Middle Aged Models, Molecular Mutation* Phenylalanine Hydroxylase / chemistry, genetics* Phenylketonurias / drug therapy, enzymology, genetics* Protein Conformation Regulatory Sequences, Nucleic Acid Sequence Deletion |
| Grant Support | |
ID/Acronym/Agency:
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HD023148/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
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17528-72-2/5,6,7,8-tetrahydrobiopterin; 22150-76-1/Biopterin; EC 1.14.16.1/Phenylalanine Hydroxylase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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