Tetrahydrobiopterin treatment in phenylketonuria: A repurposing approach
In phenylketonuria (PKU) patients, early diagnosis by neonatal screening and immediate institution of a phenylalanine‐restricted diet can prevent severe intellectual impairment. Nevertheless, outcome remains suboptimal in some patients asking for additional treatment strategies. Tetrahydrobiopterin...
Gespeichert in:
| Veröffentlicht in: | Journal of inherited metabolic disease 2020-03, Vol.43 (2), p.189-199 |
|---|---|
| Hauptverfasser: | , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 199 |
|---|---|
| container_issue | 2 |
| container_start_page | 189 |
| container_title | Journal of inherited metabolic disease |
| container_volume | 43 |
| creator | Evers, Roeland A. F. Vliet, Danique Spronsen, Francjan J. |
| description | In phenylketonuria (PKU) patients, early diagnosis by neonatal screening and immediate institution of a phenylalanine‐restricted diet can prevent severe intellectual impairment. Nevertheless, outcome remains suboptimal in some patients asking for additional treatment strategies. Tetrahydrobiopterin (BH4) could be one of those treatment options, as it may not only increase residual phenylalanine hydroxylase activity in BH4‐responsive PKU patients, but possibly also directly improves neurocognitive functioning in both BH4‐responsive and BH4‐unresponsive PKU patients. In the present review, we aim to further define the theoretical working mechanisms by which BH4 might directly influence neurocognitive functioning in PKU having passed the blood‐brain barrier. Further research should investigate which of these mechanisms are actually involved, and should contribute to the development of an optimal BH4 treatment regimen to directly improve neurocognitive functioning in PKU. Such possible repurposing approach of BH4 treatment in PKU may improve neuropsychological outcome and mental health in both BH4‐responsive and BH4‐unresponsive PKU patients. |
| doi_str_mv | 10.1002/jimd.12151 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2268310773</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2268310773</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3931-2178388679b0910b501c6f339838cfa6e70e505b8a64cdbdfca9477fd1b76d283</originalsourceid><addsrcrecordid>eNp9kE1Lw0AQhhdRbK1e_AES8CJC6k62--Wt1I9WKl7qedkkG5uaL3cTJP_era0ePDiXYYaHd4YHoXPAY8A4utnkZTqGCCgcoCFQTsKIMXqIhhgmEApJ6QCdOLfBGEtB6TEaECCcYIKHaL4yrdXrPrV1nNdNa2xeBa01ui1N1QZ-aNam6ot309ZVZ3N9G0wDa5rONrXLq7dAN42tdbI-RUeZLpw52_cRen24X83m4fLlcTGbLsOESAJhBFwQIRiXMZaAY4ohYRkh0m-TTDPDsaGYxkKzSZLGaZZoOeE8SyHmLI0EGaGrXa4_-9EZ16oyd4kpCl2ZunMqipgggDknHr38g27qzlb-OxURJn1RJj11vaMSWztnTaYam5fa9gqw2vpVW7_q26-HL_aRXVya9Bf9EeoB2AGfeWH6f6LU0-L5bhf6BSn1hOA</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2369999569</pqid></control><display><type>article</type><title>Tetrahydrobiopterin treatment in phenylketonuria: A repurposing approach</title><source>MEDLINE</source><source>Wiley Online Library All Journals</source><creator>Evers, Roeland A. F. ; Vliet, Danique ; Spronsen, Francjan J.</creator><creatorcontrib>Evers, Roeland A. F. ; Vliet, Danique ; Spronsen, Francjan J.</creatorcontrib><description>In phenylketonuria (PKU) patients, early diagnosis by neonatal screening and immediate institution of a phenylalanine‐restricted diet can prevent severe intellectual impairment. Nevertheless, outcome remains suboptimal in some patients asking for additional treatment strategies. Tetrahydrobiopterin (BH4) could be one of those treatment options, as it may not only increase residual phenylalanine hydroxylase activity in BH4‐responsive PKU patients, but possibly also directly improves neurocognitive functioning in both BH4‐responsive and BH4‐unresponsive PKU patients. In the present review, we aim to further define the theoretical working mechanisms by which BH4 might directly influence neurocognitive functioning in PKU having passed the blood‐brain barrier. Further research should investigate which of these mechanisms are actually involved, and should contribute to the development of an optimal BH4 treatment regimen to directly improve neurocognitive functioning in PKU. Such possible repurposing approach of BH4 treatment in PKU may improve neuropsychological outcome and mental health in both BH4‐responsive and BH4‐unresponsive PKU patients.</description><identifier>ISSN: 0141-8955</identifier><identifier>EISSN: 1573-2665</identifier><identifier>DOI: 10.1002/jimd.12151</identifier><identifier>PMID: 31373030</identifier><language>eng</language><publisher>Hoboken, USA: John Wiley & Sons, Inc</publisher><subject>Biopterins - analogs & derivatives ; Biopterins - therapeutic use ; Blood-brain barrier ; brain ; Cognition ; Humans ; Hydroxylase ; Infant, Newborn ; Neonatal Screening ; Neonates ; neurocognitive functioning ; neurotransmitters ; Nutrient deficiency ; Oxidative Stress ; Phenylalanine ; Phenylalanine - blood ; Phenylalanine 4-monooxygenase ; Phenylketonuria ; Phenylketonurias - drug therapy ; Tetrahydrobiopterin ; treatment ; White Matter</subject><ispartof>Journal of inherited metabolic disease, 2020-03, Vol.43 (2), p.189-199</ispartof><rights>2019 SSIEM</rights><rights>2019 SSIEM.</rights><rights>Copyright © 2020 SSIEM</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3931-2178388679b0910b501c6f339838cfa6e70e505b8a64cdbdfca9477fd1b76d283</citedby><cites>FETCH-LOGICAL-c3931-2178388679b0910b501c6f339838cfa6e70e505b8a64cdbdfca9477fd1b76d283</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fjimd.12151$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fjimd.12151$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1416,27923,27924,45573,45574</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31373030$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Evers, Roeland A. F.</creatorcontrib><creatorcontrib>Vliet, Danique</creatorcontrib><creatorcontrib>Spronsen, Francjan J.</creatorcontrib><title>Tetrahydrobiopterin treatment in phenylketonuria: A repurposing approach</title><title>Journal of inherited metabolic disease</title><addtitle>J Inherit Metab Dis</addtitle><description>In phenylketonuria (PKU) patients, early diagnosis by neonatal screening and immediate institution of a phenylalanine‐restricted diet can prevent severe intellectual impairment. Nevertheless, outcome remains suboptimal in some patients asking for additional treatment strategies. Tetrahydrobiopterin (BH4) could be one of those treatment options, as it may not only increase residual phenylalanine hydroxylase activity in BH4‐responsive PKU patients, but possibly also directly improves neurocognitive functioning in both BH4‐responsive and BH4‐unresponsive PKU patients. In the present review, we aim to further define the theoretical working mechanisms by which BH4 might directly influence neurocognitive functioning in PKU having passed the blood‐brain barrier. Further research should investigate which of these mechanisms are actually involved, and should contribute to the development of an optimal BH4 treatment regimen to directly improve neurocognitive functioning in PKU. Such possible repurposing approach of BH4 treatment in PKU may improve neuropsychological outcome and mental health in both BH4‐responsive and BH4‐unresponsive PKU patients.</description><subject>Biopterins - analogs & derivatives</subject><subject>Biopterins - therapeutic use</subject><subject>Blood-brain barrier</subject><subject>brain</subject><subject>Cognition</subject><subject>Humans</subject><subject>Hydroxylase</subject><subject>Infant, Newborn</subject><subject>Neonatal Screening</subject><subject>Neonates</subject><subject>neurocognitive functioning</subject><subject>neurotransmitters</subject><subject>Nutrient deficiency</subject><subject>Oxidative Stress</subject><subject>Phenylalanine</subject><subject>Phenylalanine - blood</subject><subject>Phenylalanine 4-monooxygenase</subject><subject>Phenylketonuria</subject><subject>Phenylketonurias - drug therapy</subject><subject>Tetrahydrobiopterin</subject><subject>treatment</subject><subject>White Matter</subject><issn>0141-8955</issn><issn>1573-2665</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kE1Lw0AQhhdRbK1e_AES8CJC6k62--Wt1I9WKl7qedkkG5uaL3cTJP_era0ePDiXYYaHd4YHoXPAY8A4utnkZTqGCCgcoCFQTsKIMXqIhhgmEApJ6QCdOLfBGEtB6TEaECCcYIKHaL4yrdXrPrV1nNdNa2xeBa01ui1N1QZ-aNam6ot309ZVZ3N9G0wDa5rONrXLq7dAN42tdbI-RUeZLpw52_cRen24X83m4fLlcTGbLsOESAJhBFwQIRiXMZaAY4ohYRkh0m-TTDPDsaGYxkKzSZLGaZZoOeE8SyHmLI0EGaGrXa4_-9EZ16oyd4kpCl2ZunMqipgggDknHr38g27qzlb-OxURJn1RJj11vaMSWztnTaYam5fa9gqw2vpVW7_q26-HL_aRXVya9Bf9EeoB2AGfeWH6f6LU0-L5bhf6BSn1hOA</recordid><startdate>202003</startdate><enddate>202003</enddate><creator>Evers, Roeland A. F.</creator><creator>Vliet, Danique</creator><creator>Spronsen, Francjan J.</creator><general>John Wiley & Sons, Inc</general><general>Blackwell Publishing Ltd</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QP</scope><scope>7TK</scope><scope>K9.</scope><scope>7X8</scope></search><sort><creationdate>202003</creationdate><title>Tetrahydrobiopterin treatment in phenylketonuria: A repurposing approach</title><author>Evers, Roeland A. F. ; Vliet, Danique ; Spronsen, Francjan J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3931-2178388679b0910b501c6f339838cfa6e70e505b8a64cdbdfca9477fd1b76d283</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Biopterins - analogs & derivatives</topic><topic>Biopterins - therapeutic use</topic><topic>Blood-brain barrier</topic><topic>brain</topic><topic>Cognition</topic><topic>Humans</topic><topic>Hydroxylase</topic><topic>Infant, Newborn</topic><topic>Neonatal Screening</topic><topic>Neonates</topic><topic>neurocognitive functioning</topic><topic>neurotransmitters</topic><topic>Nutrient deficiency</topic><topic>Oxidative Stress</topic><topic>Phenylalanine</topic><topic>Phenylalanine - blood</topic><topic>Phenylalanine 4-monooxygenase</topic><topic>Phenylketonuria</topic><topic>Phenylketonurias - drug therapy</topic><topic>Tetrahydrobiopterin</topic><topic>treatment</topic><topic>White Matter</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Evers, Roeland A. F.</creatorcontrib><creatorcontrib>Vliet, Danique</creatorcontrib><creatorcontrib>Spronsen, Francjan J.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of inherited metabolic disease</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Evers, Roeland A. F.</au><au>Vliet, Danique</au><au>Spronsen, Francjan J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Tetrahydrobiopterin treatment in phenylketonuria: A repurposing approach</atitle><jtitle>Journal of inherited metabolic disease</jtitle><addtitle>J Inherit Metab Dis</addtitle><date>2020-03</date><risdate>2020</risdate><volume>43</volume><issue>2</issue><spage>189</spage><epage>199</epage><pages>189-199</pages><issn>0141-8955</issn><eissn>1573-2665</eissn><abstract>In phenylketonuria (PKU) patients, early diagnosis by neonatal screening and immediate institution of a phenylalanine‐restricted diet can prevent severe intellectual impairment. Nevertheless, outcome remains suboptimal in some patients asking for additional treatment strategies. Tetrahydrobiopterin (BH4) could be one of those treatment options, as it may not only increase residual phenylalanine hydroxylase activity in BH4‐responsive PKU patients, but possibly also directly improves neurocognitive functioning in both BH4‐responsive and BH4‐unresponsive PKU patients. In the present review, we aim to further define the theoretical working mechanisms by which BH4 might directly influence neurocognitive functioning in PKU having passed the blood‐brain barrier. Further research should investigate which of these mechanisms are actually involved, and should contribute to the development of an optimal BH4 treatment regimen to directly improve neurocognitive functioning in PKU. Such possible repurposing approach of BH4 treatment in PKU may improve neuropsychological outcome and mental health in both BH4‐responsive and BH4‐unresponsive PKU patients.</abstract><cop>Hoboken, USA</cop><pub>John Wiley & Sons, Inc</pub><pmid>31373030</pmid><doi>10.1002/jimd.12151</doi><tpages>11</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0141-8955 |
| ispartof | Journal of inherited metabolic disease, 2020-03, Vol.43 (2), p.189-199 |
| issn | 0141-8955 1573-2665 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_2268310773 |
| source | MEDLINE; Wiley Online Library All Journals |
| subjects | Biopterins - analogs & derivatives Biopterins - therapeutic use Blood-brain barrier brain Cognition Humans Hydroxylase Infant, Newborn Neonatal Screening Neonates neurocognitive functioning neurotransmitters Nutrient deficiency Oxidative Stress Phenylalanine Phenylalanine - blood Phenylalanine 4-monooxygenase Phenylketonuria Phenylketonurias - drug therapy Tetrahydrobiopterin treatment White Matter |
| title | Tetrahydrobiopterin treatment in phenylketonuria: A repurposing approach |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-12T23%3A26%3A55IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Tetrahydrobiopterin%20treatment%20in%20phenylketonuria:%20A%20repurposing%20approach&rft.jtitle=Journal%20of%20inherited%20metabolic%20disease&rft.au=Evers,%20Roeland%20A.%20F.&rft.date=2020-03&rft.volume=43&rft.issue=2&rft.spage=189&rft.epage=199&rft.pages=189-199&rft.issn=0141-8955&rft.eissn=1573-2665&rft_id=info:doi/10.1002/jimd.12151&rft_dat=%3Cproquest_cross%3E2268310773%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2369999569&rft_id=info:pmid/31373030&rfr_iscdi=true |