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Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation
Three of four nonketotic hyperglycinemia patients homozygous for a novel GLDC mutation (A802V) were treated by assisted respiration and/or sodium benzoate with or without ketamine and had transient neonatal or absent symptoms and normal developmental outcome, despite persisting biochemical evidence...
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| Published in: | Annals of neurology 2004-07, Vol.56 (1), p.139-143 |
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| Main Authors: | , , , , , , , , |
| Format: | Article |
| Language: | English |
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| cited_by | cdi_FETCH-LOGICAL-c3899-c8c6eb39e557a404bf5ec383068591871f2d48661842bba3ebe3b6d22b4c57243 |
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| cites | cdi_FETCH-LOGICAL-c3899-c8c6eb39e557a404bf5ec383068591871f2d48661842bba3ebe3b6d22b4c57243 |
| container_end_page | 143 |
| container_issue | 1 |
| container_start_page | 139 |
| container_title | Annals of neurology |
| container_volume | 56 |
| creator | Korman, Stanley H. Boneh, Avihu Ichinohe, Akiko Kojima, Kanako Sato, Kenichi Ergaz, Zivanit Gomori, John M. Gutman, Alisa Kure, Shigeo |
| description | Three of four nonketotic hyperglycinemia patients homozygous for a novel GLDC mutation (A802V) were treated by assisted respiration and/or sodium benzoate with or without ketamine and had transient neonatal or absent symptoms and normal developmental outcome, despite persisting biochemical evidence of nonketotic hyperglycinemia. This exceptional outcome may be related to the high residual activity of the mutant protein (32% of wild type) and therapeutic intervention during a critical period of heightened brain exposure and sensitivity to glycine. Ann Neurol 2004;56:139–143 |
| doi_str_mv | 10.1002/ana.20159 |
| format | article |
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This exceptional outcome may be related to the high residual activity of the mutant protein (32% of wild type) and therapeutic intervention during a critical period of heightened brain exposure and sensitivity to glycine. 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This exceptional outcome may be related to the high residual activity of the mutant protein (32% of wild type) and therapeutic intervention during a critical period of heightened brain exposure and sensitivity to glycine. 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Boneh, Avihu ; Ichinohe, Akiko ; Kojima, Kanako ; Sato, Kenichi ; Ergaz, Zivanit ; Gomori, John M. ; Gutman, Alisa ; Kure, Shigeo</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3899-c8c6eb39e557a404bf5ec383068591871f2d48661842bba3ebe3b6d22b4c57243</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Adult</topic><topic>Amino Acid Oxidoreductases - genetics</topic><topic>Amino Acid Oxidoreductases - metabolism</topic><topic>Biological and medical sciences</topic><topic>Child, Preschool</topic><topic>DNA Mutational Analysis</topic><topic>Excitatory Amino Acid Antagonists - therapeutic use</topic><topic>Female</topic><topic>Glycine - metabolism</topic><topic>Glycine Dehydrogenase (Decarboxylating)</topic><topic>Humans</topic><topic>Hyperglycinemia, Nonketotic - diagnosis</topic><topic>Hyperglycinemia, Nonketotic - genetics</topic><topic>Hyperglycinemia, Nonketotic - physiopathology</topic><topic>Hyperglycinemia, Nonketotic - therapy</topic><topic>Infant, Newborn</topic><topic>Ketamine - therapeutic use</topic><topic>Magnetic Resonance Spectroscopy</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Neurology</topic><topic>Pedigree</topic><topic>Point Mutation</topic><topic>Prognosis</topic><topic>Respiration, Artificial</topic><topic>Sodium Benzoate - therapeutic use</topic><topic>Treatment Outcome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Korman, Stanley H.</creatorcontrib><creatorcontrib>Boneh, Avihu</creatorcontrib><creatorcontrib>Ichinohe, Akiko</creatorcontrib><creatorcontrib>Kojima, Kanako</creatorcontrib><creatorcontrib>Sato, Kenichi</creatorcontrib><creatorcontrib>Ergaz, Zivanit</creatorcontrib><creatorcontrib>Gomori, John M.</creatorcontrib><creatorcontrib>Gutman, Alisa</creatorcontrib><creatorcontrib>Kure, Shigeo</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>Neurosciences Abstracts</collection><jtitle>Annals of neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Korman, Stanley H.</au><au>Boneh, Avihu</au><au>Ichinohe, Akiko</au><au>Kojima, Kanako</au><au>Sato, Kenichi</au><au>Ergaz, Zivanit</au><au>Gomori, John M.</au><au>Gutman, Alisa</au><au>Kure, Shigeo</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation</atitle><jtitle>Annals of neurology</jtitle><addtitle>Ann Neurol</addtitle><date>2004-07</date><risdate>2004</risdate><volume>56</volume><issue>1</issue><spage>139</spage><epage>143</epage><pages>139-143</pages><issn>0364-5134</issn><eissn>1531-8249</eissn><coden>ANNED3</coden><abstract>Three of four nonketotic hyperglycinemia patients homozygous for a novel GLDC mutation (A802V) were treated by assisted respiration and/or sodium benzoate with or without ketamine and had transient neonatal or absent symptoms and normal developmental outcome, despite persisting biochemical evidence of nonketotic hyperglycinemia. 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| fulltext | fulltext |
| identifier | ISSN: 0364-5134 |
| ispartof | Annals of neurology, 2004-07, Vol.56 (1), p.139-143 |
| issn | 0364-5134 1531-8249 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_20632085 |
| source | Wiley |
| subjects | Adult Amino Acid Oxidoreductases - genetics Amino Acid Oxidoreductases - metabolism Biological and medical sciences Child, Preschool DNA Mutational Analysis Excitatory Amino Acid Antagonists - therapeutic use Female Glycine - metabolism Glycine Dehydrogenase (Decarboxylating) Humans Hyperglycinemia, Nonketotic - diagnosis Hyperglycinemia, Nonketotic - genetics Hyperglycinemia, Nonketotic - physiopathology Hyperglycinemia, Nonketotic - therapy Infant, Newborn Ketamine - therapeutic use Magnetic Resonance Spectroscopy Male Medical sciences Neurology Pedigree Point Mutation Prognosis Respiration, Artificial Sodium Benzoate - therapeutic use Treatment Outcome |
| title | Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation |
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