Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia
Transient neonatal hyperglycinemia is clinically or biochemically indistinguishable from nonketotic hyperglycinemia at onset. In the case of transient neonatal hyperglycinemia, the elevated plasma and cerebrospinal fluid glycine levels are normalized within 2 to 8 weeks. To elucidate the pathogenesi...
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| Veröffentlicht in: | Annals of neurology 2002-11, Vol.52 (5), p.643-646 |
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| container_title | Annals of neurology |
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| creator | Kure, Shigeo Kojima, Kanako Ichinohe, Akiko Maeda, Tomoki Kalmanchey, Rozalia Fekete, György Berg, Suzan Z. Filiano, Jim Aoki, Yoko Suzuki, Yoichi Izumi, Tatsuro Matsubara, Yoichi |
| description | Transient neonatal hyperglycinemia is clinically or biochemically indistinguishable from nonketotic hyperglycinemia at onset. In the case of transient neonatal hyperglycinemia, the elevated plasma and cerebrospinal fluid glycine levels are normalized within 2 to 8 weeks. To elucidate the pathogenesis of transient neonatal hyperglycinemia, we studied three patients by screening mutations in the genes that encode three components of the glycine cleavage system. Heterozygous mutations were identified in all of the three patients, suggesting that transient neonatal hyperglycinemia develops in some heterozygous carriers for nonketotic hyperglycinemia. |
| doi_str_mv | 10.1002/ana.10367 |
| format | Article |
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In the case of transient neonatal hyperglycinemia, the elevated plasma and cerebrospinal fluid glycine levels are normalized within 2 to 8 weeks. To elucidate the pathogenesis of transient neonatal hyperglycinemia, we studied three patients by screening mutations in the genes that encode three components of the glycine cleavage system. Heterozygous mutations were identified in all of the three patients, suggesting that transient neonatal hyperglycinemia develops in some heterozygous carriers for nonketotic hyperglycinemia.</description><identifier>ISSN: 0364-5134</identifier><identifier>EISSN: 1531-8249</identifier><identifier>DOI: 10.1002/ana.10367</identifier><identifier>PMID: 12402263</identifier><identifier>CODEN: ANNED3</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Amino Acid Oxidoreductases - genetics ; Aminoacid disorders ; Base Sequence - genetics ; Biological and medical sciences ; Carrier Proteins - genetics ; Child ; Child, Preschool ; Errors of metabolism ; Female ; Genetic Testing ; Glycine Dehydrogenase ; Glycine Dehydrogenase (Decarboxylating) ; Heterozygote ; Humans ; Hyperglycinemia, Nonketotic - genetics ; Infant, Newborn ; Male ; Medical sciences ; Metabolic diseases ; Molecular Sequence Data ; Mutation - genetics</subject><ispartof>Annals of neurology, 2002-11, Vol.52 (5), p.643-646</ispartof><rights>Copyright © 2002 Wiley‐Liss, Inc.</rights><rights>2003 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4557-7989dfd3b63d187b885b31748fa02eb3b931251c9ac890e9506e4e8bf6a56eb43</citedby><cites>FETCH-LOGICAL-c4557-7989dfd3b63d187b885b31748fa02eb3b931251c9ac890e9506e4e8bf6a56eb43</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.10367$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fana.10367$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1416,27923,27924,45573,45574</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14004640$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12402263$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kure, Shigeo</creatorcontrib><creatorcontrib>Kojima, Kanako</creatorcontrib><creatorcontrib>Ichinohe, Akiko</creatorcontrib><creatorcontrib>Maeda, Tomoki</creatorcontrib><creatorcontrib>Kalmanchey, Rozalia</creatorcontrib><creatorcontrib>Fekete, György</creatorcontrib><creatorcontrib>Berg, Suzan Z.</creatorcontrib><creatorcontrib>Filiano, Jim</creatorcontrib><creatorcontrib>Aoki, Yoko</creatorcontrib><creatorcontrib>Suzuki, Yoichi</creatorcontrib><creatorcontrib>Izumi, Tatsuro</creatorcontrib><creatorcontrib>Matsubara, Yoichi</creatorcontrib><title>Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia</title><title>Annals of neurology</title><addtitle>Ann Neurol</addtitle><description>Transient neonatal hyperglycinemia is clinically or biochemically indistinguishable from nonketotic hyperglycinemia at onset. In the case of transient neonatal hyperglycinemia, the elevated plasma and cerebrospinal fluid glycine levels are normalized within 2 to 8 weeks. To elucidate the pathogenesis of transient neonatal hyperglycinemia, we studied three patients by screening mutations in the genes that encode three components of the glycine cleavage system. Heterozygous mutations were identified in all of the three patients, suggesting that transient neonatal hyperglycinemia develops in some heterozygous carriers for nonketotic hyperglycinemia.</description><subject>Amino Acid Oxidoreductases - genetics</subject><subject>Aminoacid disorders</subject><subject>Base Sequence - genetics</subject><subject>Biological and medical sciences</subject><subject>Carrier Proteins - genetics</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Errors of metabolism</subject><subject>Female</subject><subject>Genetic Testing</subject><subject>Glycine Dehydrogenase</subject><subject>Glycine Dehydrogenase (Decarboxylating)</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Hyperglycinemia, Nonketotic - genetics</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Molecular Sequence Data</subject><subject>Mutation - 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>eNp1kMFu1DAQhi0EokvhwAsgX0DiEGrHdmIfVynsIi2tBEU9WpNkshgSZ2sngvD0GHahJ062PN_MP_4Iec7ZG85YfgEe0kUU5QOy4krwTOfSPCSr9CQzxYU8I09i_MoYMwVnj8kZzyXL80KsyPUWJwzjz2U_zpFudpcVBd_STfVpS_fokQ7zBJMbfaTO0ymAjw79RD2OHibo6ZflgGHfL43zODh4Sh510Ed8djrPyed3b2-qbba73ryv1ruskUqVWWm0abtW1IVouS5rrVUteCl1ByzHWtRG8FzxxkCjDUOjWIESdd0VoAqspTgnr45zD2G8mzFOdnCxwb6HtNkcbZl-J6Q0CXx9BJswxhiws4fgBgiL5cz-tmeTPfvHXmJfnIbO9YDtPXnSlYCXJwBiA32XdDQu3nOSMVlIlriLI_fd9bj8P9Gur9Z_o7Njh4sT_vjXAeGbTdVS2durjf1Yfbi5LS-1NeIXwBmUQA</recordid><startdate>200211</startdate><enddate>200211</enddate><creator>Kure, Shigeo</creator><creator>Kojima, Kanako</creator><creator>Ichinohe, Akiko</creator><creator>Maeda, Tomoki</creator><creator>Kalmanchey, Rozalia</creator><creator>Fekete, György</creator><creator>Berg, Suzan Z.</creator><creator>Filiano, Jim</creator><creator>Aoki, Yoko</creator><creator>Suzuki, Yoichi</creator><creator>Izumi, Tatsuro</creator><creator>Matsubara, Yoichi</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>200211</creationdate><title>Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia</title><author>Kure, Shigeo ; Kojima, Kanako ; Ichinohe, Akiko ; Maeda, Tomoki ; Kalmanchey, Rozalia ; Fekete, György ; Berg, Suzan Z. ; Filiano, Jim ; Aoki, Yoko ; Suzuki, Yoichi ; Izumi, Tatsuro ; Matsubara, Yoichi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4557-7989dfd3b63d187b885b31748fa02eb3b931251c9ac890e9506e4e8bf6a56eb43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>Amino Acid Oxidoreductases - genetics</topic><topic>Aminoacid disorders</topic><topic>Base Sequence - genetics</topic><topic>Biological and medical sciences</topic><topic>Carrier Proteins - genetics</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Errors of metabolism</topic><topic>Female</topic><topic>Genetic Testing</topic><topic>Glycine Dehydrogenase</topic><topic>Glycine Dehydrogenase (Decarboxylating)</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Hyperglycinemia, Nonketotic - genetics</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Molecular Sequence Data</topic><topic>Mutation - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kure, Shigeo</creatorcontrib><creatorcontrib>Kojima, Kanako</creatorcontrib><creatorcontrib>Ichinohe, Akiko</creatorcontrib><creatorcontrib>Maeda, Tomoki</creatorcontrib><creatorcontrib>Kalmanchey, Rozalia</creatorcontrib><creatorcontrib>Fekete, György</creatorcontrib><creatorcontrib>Berg, Suzan Z.</creatorcontrib><creatorcontrib>Filiano, Jim</creatorcontrib><creatorcontrib>Aoki, Yoko</creatorcontrib><creatorcontrib>Suzuki, Yoichi</creatorcontrib><creatorcontrib>Izumi, Tatsuro</creatorcontrib><creatorcontrib>Matsubara, Yoichi</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>Kure, Shigeo</au><au>Kojima, Kanako</au><au>Ichinohe, Akiko</au><au>Maeda, Tomoki</au><au>Kalmanchey, Rozalia</au><au>Fekete, György</au><au>Berg, Suzan Z.</au><au>Filiano, Jim</au><au>Aoki, Yoko</au><au>Suzuki, Yoichi</au><au>Izumi, Tatsuro</au><au>Matsubara, Yoichi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia</atitle><jtitle>Annals of neurology</jtitle><addtitle>Ann Neurol</addtitle><date>2002-11</date><risdate>2002</risdate><volume>52</volume><issue>5</issue><spage>643</spage><epage>646</epage><pages>643-646</pages><issn>0364-5134</issn><eissn>1531-8249</eissn><coden>ANNED3</coden><abstract>Transient neonatal hyperglycinemia is clinically or biochemically indistinguishable from nonketotic hyperglycinemia at onset. In the case of transient neonatal hyperglycinemia, the elevated plasma and cerebrospinal fluid glycine levels are normalized within 2 to 8 weeks. To elucidate the pathogenesis of transient neonatal hyperglycinemia, we studied three patients by screening mutations in the genes that encode three components of the glycine cleavage system. Heterozygous mutations were identified in all of the three patients, suggesting that transient neonatal hyperglycinemia develops in some heterozygous carriers for nonketotic hyperglycinemia.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>12402263</pmid><doi>10.1002/ana.10367</doi><tpages>4</tpages></addata></record> |
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| subjects | Amino Acid Oxidoreductases - genetics Aminoacid disorders Base Sequence - genetics Biological and medical sciences Carrier Proteins - genetics Child Child, Preschool Errors of metabolism Female Genetic Testing Glycine Dehydrogenase Glycine Dehydrogenase (Decarboxylating) Heterozygote Humans Hyperglycinemia, Nonketotic - genetics Infant, Newborn Male Medical sciences Metabolic diseases Molecular Sequence Data Mutation - genetics |
| title | Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia |
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