X-linked creatine deficiency syndrome: A novel mutation in creatine transporter gene SLC6A8
Among creatine deficiency syndromes, an X‐linked condition related to a defective creatine transport into the central nervous system has been described recently. Hallmarks of the disease are the absence of a creatine signal at brain spectroscopy, increased creatine levels in blood and urine, ineffec...
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| Veröffentlicht in: | Annals of neurology 2002-08, Vol.52 (2), p.227-231 |
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| container_title | Annals of neurology |
| container_volume | 52 |
| creator | Bizzi, Alberto Bugiani, Marianna Salomons, Gajja S. Hunneman, Donald H. Moroni, Isabella Estienne, Margherita Danesi, Ugo Jakobs, Cornelis Uziel, Graziella |
| description | Among creatine deficiency syndromes, an X‐linked condition related to a defective creatine transport into the central nervous system has been described recently. Hallmarks of the disease are the absence of a creatine signal at brain spectroscopy, increased creatine levels in blood and urine, ineffectiveness of oral supplementation, and a mutation in the SLC6A8 (Online Mendelian Inheritance in Man [OMIM] 300036) creatine transporter gene. We report on a patient in whom a novel mutation (1221‐1223delTTC) was identified. |
| doi_str_mv | 10.1002/ana.10246 |
| format | Article |
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Hallmarks of the disease are the absence of a creatine signal at brain spectroscopy, increased creatine levels in blood and urine, ineffectiveness of oral supplementation, and a mutation in the SLC6A8 (Online Mendelian Inheritance in Man [OMIM] 300036) creatine transporter gene. We report on a patient in whom a novel mutation (1221‐1223delTTC) was identified.</description><identifier>ISSN: 0364-5134</identifier><identifier>EISSN: 1531-8249</identifier><identifier>DOI: 10.1002/ana.10246</identifier><identifier>PMID: 12210795</identifier><identifier>CODEN: ANNED3</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Administration, Oral ; Biological and medical sciences ; Brain - metabolism ; Creatine - blood ; Creatine - deficiency ; Creatine - therapeutic use ; Creatine - urine ; Disorders of higher nervous function. Focal brain diseases. Central vestibular syndrome and deafness. Brain stem syndromes ; Genetic Linkage ; Humans ; Infant ; Magnetic Resonance Spectroscopy ; Male ; Medical sciences ; Membrane Transport Proteins - genetics ; Metabolism, Inborn Errors - drug therapy ; Metabolism, Inborn Errors - genetics ; Metabolism, Inborn Errors - metabolism ; Mutation ; Nervous system (semeiology, syndromes) ; Neurology ; Syndrome ; Treatment Failure ; X Chromosome - genetics</subject><ispartof>Annals of neurology, 2002-08, Vol.52 (2), p.227-231</ispartof><rights>Copyright © 2002 Wiley‐Liss, Inc.</rights><rights>2002 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4556-d0fd73113dc8365e7f264d2696b93b09ce6f26da8aa6756cfb3325f03ad6e5a53</citedby><cites>FETCH-LOGICAL-c4556-d0fd73113dc8365e7f264d2696b93b09ce6f26da8aa6756cfb3325f03ad6e5a53</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%2Fana.10246$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fana.10246$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=13835586$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12210795$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Bizzi, Alberto</creatorcontrib><creatorcontrib>Bugiani, Marianna</creatorcontrib><creatorcontrib>Salomons, Gajja S.</creatorcontrib><creatorcontrib>Hunneman, Donald H.</creatorcontrib><creatorcontrib>Moroni, Isabella</creatorcontrib><creatorcontrib>Estienne, Margherita</creatorcontrib><creatorcontrib>Danesi, Ugo</creatorcontrib><creatorcontrib>Jakobs, Cornelis</creatorcontrib><creatorcontrib>Uziel, Graziella</creatorcontrib><title>X-linked creatine deficiency syndrome: A novel mutation in creatine transporter gene SLC6A8</title><title>Annals of neurology</title><addtitle>Ann Neurol</addtitle><description>Among creatine deficiency syndromes, an X‐linked condition related to a defective creatine transport into the central nervous system has been described recently. Hallmarks of the disease are the absence of a creatine signal at brain spectroscopy, increased creatine levels in blood and urine, ineffectiveness of oral supplementation, and a mutation in the SLC6A8 (Online Mendelian Inheritance in Man [OMIM] 300036) creatine transporter gene. We report on a patient in whom a novel mutation (1221‐1223delTTC) was identified.</description><subject>Administration, Oral</subject><subject>Biological and medical sciences</subject><subject>Brain - metabolism</subject><subject>Creatine - blood</subject><subject>Creatine - deficiency</subject><subject>Creatine - therapeutic use</subject><subject>Creatine - urine</subject><subject>Disorders of higher nervous function. Focal brain diseases. Central vestibular syndrome and deafness. Brain stem syndromes</subject><subject>Genetic Linkage</subject><subject>Humans</subject><subject>Infant</subject><subject>Magnetic Resonance Spectroscopy</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Membrane Transport Proteins - genetics</subject><subject>Metabolism, Inborn Errors - drug therapy</subject><subject>Metabolism, Inborn Errors - genetics</subject><subject>Metabolism, Inborn Errors - metabolism</subject><subject>Mutation</subject><subject>Nervous system (semeiology, syndromes)</subject><subject>Neurology</subject><subject>Syndrome</subject><subject>Treatment Failure</subject><subject>X Chromosome - genetics</subject><issn>0364-5134</issn><issn>1531-8249</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kE1PGzEQhq2KqgmhB_4A2gtIHLb4Y-3d5baK2lCRghBQED1Yjj2LTHa9wd5A8-9rSNqceprR6HnfkR6E9gn-QjCmJ8qpuNBMfEBDwhlJC5qVO2iImchSTlg2QLshPGGMS0HwJzQglBKcl3yIft2njXVzMIn2oHrrIDFQW23B6VUSVs74roXTpEpc9wJN0i77SHUusW6b6L1yYdH5HnzyCPFwPR2LqthDH2vVBPi8mSN0--3rzfgsnV5Ovo-raaozzkVqcG1yRggzumCCQ15TkRkqSjEr2QyXGkS8GFUoJXIudD1jjPIaM2UEcMXZCB2texe-e15C6GVrg4amUQ66ZZA5xVmZcxbB4zWofReCh1ouvG2VX0mC5ZtJGU3Kd5ORPdiULmctmC25UReBww2gglZNHR1oG7YcKxjnxVvRyZp7tQ2s_v9RVhfV39fpOmFDD7__JZSfS5GznMu7i4n8-eNBFPzqXJ6zP89BmI4</recordid><startdate>200208</startdate><enddate>200208</enddate><creator>Bizzi, Alberto</creator><creator>Bugiani, Marianna</creator><creator>Salomons, Gajja S.</creator><creator>Hunneman, Donald H.</creator><creator>Moroni, Isabella</creator><creator>Estienne, Margherita</creator><creator>Danesi, Ugo</creator><creator>Jakobs, Cornelis</creator><creator>Uziel, Graziella</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Willey-Liss</general><scope>BSCLL</scope><scope>IQODW</scope><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>7X8</scope></search><sort><creationdate>200208</creationdate><title>X-linked creatine deficiency syndrome: A novel mutation in creatine transporter gene SLC6A8</title><author>Bizzi, Alberto ; Bugiani, Marianna ; Salomons, Gajja S. ; Hunneman, Donald H. ; Moroni, Isabella ; Estienne, Margherita ; Danesi, Ugo ; Jakobs, Cornelis ; Uziel, Graziella</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4556-d0fd73113dc8365e7f264d2696b93b09ce6f26da8aa6756cfb3325f03ad6e5a53</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>Administration, Oral</topic><topic>Biological and medical sciences</topic><topic>Brain - metabolism</topic><topic>Creatine - blood</topic><topic>Creatine - deficiency</topic><topic>Creatine - therapeutic use</topic><topic>Creatine - urine</topic><topic>Disorders of higher nervous function. Focal brain diseases. Central vestibular syndrome and deafness. Brain stem syndromes</topic><topic>Genetic Linkage</topic><topic>Humans</topic><topic>Infant</topic><topic>Magnetic Resonance Spectroscopy</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Membrane Transport Proteins - genetics</topic><topic>Metabolism, Inborn Errors - drug therapy</topic><topic>Metabolism, Inborn Errors - genetics</topic><topic>Metabolism, Inborn Errors - metabolism</topic><topic>Mutation</topic><topic>Nervous system (semeiology, syndromes)</topic><topic>Neurology</topic><topic>Syndrome</topic><topic>Treatment Failure</topic><topic>X Chromosome - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bizzi, Alberto</creatorcontrib><creatorcontrib>Bugiani, Marianna</creatorcontrib><creatorcontrib>Salomons, Gajja S.</creatorcontrib><creatorcontrib>Hunneman, Donald H.</creatorcontrib><creatorcontrib>Moroni, Isabella</creatorcontrib><creatorcontrib>Estienne, Margherita</creatorcontrib><creatorcontrib>Danesi, Ugo</creatorcontrib><creatorcontrib>Jakobs, Cornelis</creatorcontrib><creatorcontrib>Uziel, Graziella</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Annals of neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Bizzi, Alberto</au><au>Bugiani, Marianna</au><au>Salomons, Gajja S.</au><au>Hunneman, Donald H.</au><au>Moroni, Isabella</au><au>Estienne, Margherita</au><au>Danesi, Ugo</au><au>Jakobs, Cornelis</au><au>Uziel, Graziella</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>X-linked creatine deficiency syndrome: A novel mutation in creatine transporter gene SLC6A8</atitle><jtitle>Annals of neurology</jtitle><addtitle>Ann Neurol</addtitle><date>2002-08</date><risdate>2002</risdate><volume>52</volume><issue>2</issue><spage>227</spage><epage>231</epage><pages>227-231</pages><issn>0364-5134</issn><eissn>1531-8249</eissn><coden>ANNED3</coden><abstract>Among creatine deficiency syndromes, an X‐linked condition related to a defective creatine transport into the central nervous system has been described recently. Hallmarks of the disease are the absence of a creatine signal at brain spectroscopy, increased creatine levels in blood and urine, ineffectiveness of oral supplementation, and a mutation in the SLC6A8 (Online Mendelian Inheritance in Man [OMIM] 300036) creatine transporter gene. We report on a patient in whom a novel mutation (1221‐1223delTTC) was identified.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>12210795</pmid><doi>10.1002/ana.10246</doi><tpages>5</tpages></addata></record> |
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| subjects | Administration, Oral Biological and medical sciences Brain - metabolism Creatine - blood Creatine - deficiency Creatine - therapeutic use Creatine - urine Disorders of higher nervous function. Focal brain diseases. Central vestibular syndrome and deafness. Brain stem syndromes Genetic Linkage Humans Infant Magnetic Resonance Spectroscopy Male Medical sciences Membrane Transport Proteins - genetics Metabolism, Inborn Errors - drug therapy Metabolism, Inborn Errors - genetics Metabolism, Inborn Errors - metabolism Mutation Nervous system (semeiology, syndromes) Neurology Syndrome Treatment Failure X Chromosome - genetics |
| title | X-linked creatine deficiency syndrome: A novel mutation in creatine transporter gene SLC6A8 |
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