A female carrier of ornithine carbamoyltransferase deficiency masquerading as attention deficit-hyperactivity disorder
Abstract Many females who are heterozygous for ornithine carbamoyltransferase (OTC) deficiency are asymptomatic or intermittently symptomatic with great phenotypic variability. Therefore, the diagnosis of this condition is occasionally a challenge and is often delayed. A 12-year-old girl who was ini...
Gespeichert in:
| Veröffentlicht in: | Brain & development (Tokyo. 1979) 2014-09, Vol.36 (8), p.734-737 |
|---|---|
| Hauptverfasser: | , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 737 |
|---|---|
| container_issue | 8 |
| container_start_page | 734 |
| container_title | Brain & development (Tokyo. 1979) |
| container_volume | 36 |
| creator | Kim, Se Hee Lee, Jin Sook Lim, Byung Chan Kim, Ki Joong Hwang, Yong Seoung Park, June Dong Cheon, Jung-Eun Kim, In-One Kim, Boong-Nyun Chae, Jong-Hee |
| description | Abstract Many females who are heterozygous for ornithine carbamoyltransferase (OTC) deficiency are asymptomatic or intermittently symptomatic with great phenotypic variability. Therefore, the diagnosis of this condition is occasionally a challenge and is often delayed. A 12-year-old girl who was initially diagnosed as having attention deficit-hyperactivity disorder (ADHD) became comatose and developed right-sided hemiparesis during her psychiatric admission. Brain magnetic resonance imaging indicated diffuse but extensive swelling in the left hemisphere with multiple lesions suggestive of an old infarction. Repeated evaluations revealed hyperammonemia and orotic aciduria, and she was diagnosed as having an OTC deficiency. Genetic analysis revealed a heterozygous mutation of N47I in the X-linked OTC gene. Her mental status and hemiparesis improved after hyperammonemia treatment. Here, we report a rare case of a manifestating female carrier with severe symptoms of OTC deficiency masquerading as ADHD. |
| doi_str_mv | 10.1016/j.braindev.2013.09.009 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1560111611</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>1_s2_0_S038776041300291X</els_id><sourcerecordid>1560111611</sourcerecordid><originalsourceid>FETCH-LOGICAL-c616t-392f802127d467b780c392ef351aab9e7bdfc103da4b3966097a441ed5b99a1d3</originalsourceid><addsrcrecordid>eNqNkktv1DAUhSMEokPhL1RZsslwr51x4g2iqspDqsQCkNhZjn1DPST2YHtGyr_H05myYAMrS8fffeicW1VXCGsEFG-26yFq5y0d1gyQr0GuAeSTaoV9x5oOOT6tVsD7rukEtBfVi5S2AIAM4Xl1wVqUUkC_qg7X9Uiznqg2OkZHsQ5jHaJ3-d75B3HQc1imHLVPI0WdqLY0OuPIm6Wedfq1L6p1_ketU61zJp9d8GcoN_fLrvyb7A4uL7V1KURL8WX1bNRTolfn97L69v72683H5u7zh08313eNEShywyUbe2DIOtuKbuh6MEWikW9Q60FSN9jRIHCr24FLIUB2um2R7GaQUqPll9XrU99dDGXRlNXskqFp0p7CPincCEBEgfgfaNujZKxvCypOqIkhpUij2kU367goBHWMR23VYzzqGI8CqUo8pfDqPGM_zGT_lD3mUYB3J4CKKYcSh0oPTpN1kUxWNrh_z3j7VwszOe-Mnn7SQmkb9tEXyxWqxBSoL8cjOd4IcgAm8Tv_DcoAu8E</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1548192284</pqid></control><display><type>article</type><title>A female carrier of ornithine carbamoyltransferase deficiency masquerading as attention deficit-hyperactivity disorder</title><source>MEDLINE</source><source>Elsevier ScienceDirect Journals</source><creator>Kim, Se Hee ; Lee, Jin Sook ; Lim, Byung Chan ; Kim, Ki Joong ; Hwang, Yong Seoung ; Park, June Dong ; Cheon, Jung-Eun ; Kim, In-One ; Kim, Boong-Nyun ; Chae, Jong-Hee</creator><creatorcontrib>Kim, Se Hee ; Lee, Jin Sook ; Lim, Byung Chan ; Kim, Ki Joong ; Hwang, Yong Seoung ; Park, June Dong ; Cheon, Jung-Eun ; Kim, In-One ; Kim, Boong-Nyun ; Chae, Jong-Hee</creatorcontrib><description>Abstract Many females who are heterozygous for ornithine carbamoyltransferase (OTC) deficiency are asymptomatic or intermittently symptomatic with great phenotypic variability. Therefore, the diagnosis of this condition is occasionally a challenge and is often delayed. A 12-year-old girl who was initially diagnosed as having attention deficit-hyperactivity disorder (ADHD) became comatose and developed right-sided hemiparesis during her psychiatric admission. Brain magnetic resonance imaging indicated diffuse but extensive swelling in the left hemisphere with multiple lesions suggestive of an old infarction. Repeated evaluations revealed hyperammonemia and orotic aciduria, and she was diagnosed as having an OTC deficiency. Genetic analysis revealed a heterozygous mutation of N47I in the X-linked OTC gene. Her mental status and hemiparesis improved after hyperammonemia treatment. Here, we report a rare case of a manifestating female carrier with severe symptoms of OTC deficiency masquerading as ADHD.</description><identifier>ISSN: 0387-7604</identifier><identifier>EISSN: 1872-7131</identifier><identifier>DOI: 10.1016/j.braindev.2013.09.009</identifier><identifier>PMID: 24199608</identifier><language>eng</language><publisher>Netherlands: Elsevier B.V</publisher><subject>Attention Deficit Disorder with Hyperactivity - diagnosis ; Attention deficit-hyperactivity disorder ; Brain - pathology ; Child ; Female ; Female carrier ; Heterozygote ; Humans ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy ; Mutation ; Neurology ; Ornithine Carbamoyltransferase - genetics ; Ornithine carbamoyltransferase deficiency ; Ornithine Carbamoyltransferase Deficiency Disease - diagnosis ; Ornithine Carbamoyltransferase Deficiency Disease - pathology ; Stroke</subject><ispartof>Brain & development (Tokyo. 1979), 2014-09, Vol.36 (8), p.734-737</ispartof><rights>The Japanese Society of Child Neurology</rights><rights>2013 The Japanese Society of Child Neurology</rights><rights>Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c616t-392f802127d467b780c392ef351aab9e7bdfc103da4b3966097a441ed5b99a1d3</citedby><cites>FETCH-LOGICAL-c616t-392f802127d467b780c392ef351aab9e7bdfc103da4b3966097a441ed5b99a1d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S038776041300291X$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24199608$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kim, Se Hee</creatorcontrib><creatorcontrib>Lee, Jin Sook</creatorcontrib><creatorcontrib>Lim, Byung Chan</creatorcontrib><creatorcontrib>Kim, Ki Joong</creatorcontrib><creatorcontrib>Hwang, Yong Seoung</creatorcontrib><creatorcontrib>Park, June Dong</creatorcontrib><creatorcontrib>Cheon, Jung-Eun</creatorcontrib><creatorcontrib>Kim, In-One</creatorcontrib><creatorcontrib>Kim, Boong-Nyun</creatorcontrib><creatorcontrib>Chae, Jong-Hee</creatorcontrib><title>A female carrier of ornithine carbamoyltransferase deficiency masquerading as attention deficit-hyperactivity disorder</title><title>Brain & development (Tokyo. 1979)</title><addtitle>Brain Dev</addtitle><description>Abstract Many females who are heterozygous for ornithine carbamoyltransferase (OTC) deficiency are asymptomatic or intermittently symptomatic with great phenotypic variability. Therefore, the diagnosis of this condition is occasionally a challenge and is often delayed. A 12-year-old girl who was initially diagnosed as having attention deficit-hyperactivity disorder (ADHD) became comatose and developed right-sided hemiparesis during her psychiatric admission. Brain magnetic resonance imaging indicated diffuse but extensive swelling in the left hemisphere with multiple lesions suggestive of an old infarction. Repeated evaluations revealed hyperammonemia and orotic aciduria, and she was diagnosed as having an OTC deficiency. Genetic analysis revealed a heterozygous mutation of N47I in the X-linked OTC gene. Her mental status and hemiparesis improved after hyperammonemia treatment. Here, we report a rare case of a manifestating female carrier with severe symptoms of OTC deficiency masquerading as ADHD.</description><subject>Attention Deficit Disorder with Hyperactivity - diagnosis</subject><subject>Attention deficit-hyperactivity disorder</subject><subject>Brain - pathology</subject><subject>Child</subject><subject>Female</subject><subject>Female carrier</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Magnetic Resonance Imaging</subject><subject>Magnetic Resonance Spectroscopy</subject><subject>Mutation</subject><subject>Neurology</subject><subject>Ornithine Carbamoyltransferase - genetics</subject><subject>Ornithine carbamoyltransferase deficiency</subject><subject>Ornithine Carbamoyltransferase Deficiency Disease - diagnosis</subject><subject>Ornithine Carbamoyltransferase Deficiency Disease - pathology</subject><subject>Stroke</subject><issn>0387-7604</issn><issn>1872-7131</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkktv1DAUhSMEokPhL1RZsslwr51x4g2iqspDqsQCkNhZjn1DPST2YHtGyr_H05myYAMrS8fffeicW1VXCGsEFG-26yFq5y0d1gyQr0GuAeSTaoV9x5oOOT6tVsD7rukEtBfVi5S2AIAM4Xl1wVqUUkC_qg7X9Uiznqg2OkZHsQ5jHaJ3-d75B3HQc1imHLVPI0WdqLY0OuPIm6Wedfq1L6p1_ketU61zJp9d8GcoN_fLrvyb7A4uL7V1KURL8WX1bNRTolfn97L69v72683H5u7zh08313eNEShywyUbe2DIOtuKbuh6MEWikW9Q60FSN9jRIHCr24FLIUB2um2R7GaQUqPll9XrU99dDGXRlNXskqFp0p7CPincCEBEgfgfaNujZKxvCypOqIkhpUij2kU367goBHWMR23VYzzqGI8CqUo8pfDqPGM_zGT_lD3mUYB3J4CKKYcSh0oPTpN1kUxWNrh_z3j7VwszOe-Mnn7SQmkb9tEXyxWqxBSoL8cjOd4IcgAm8Tv_DcoAu8E</recordid><startdate>20140901</startdate><enddate>20140901</enddate><creator>Kim, Se Hee</creator><creator>Lee, Jin Sook</creator><creator>Lim, Byung Chan</creator><creator>Kim, Ki Joong</creator><creator>Hwang, Yong Seoung</creator><creator>Park, June Dong</creator><creator>Cheon, Jung-Eun</creator><creator>Kim, In-One</creator><creator>Kim, Boong-Nyun</creator><creator>Chae, Jong-Hee</creator><general>Elsevier B.V</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>7X8</scope><scope>7TK</scope></search><sort><creationdate>20140901</creationdate><title>A female carrier of ornithine carbamoyltransferase deficiency masquerading as attention deficit-hyperactivity disorder</title><author>Kim, Se Hee ; Lee, Jin Sook ; Lim, Byung Chan ; Kim, Ki Joong ; Hwang, Yong Seoung ; Park, June Dong ; Cheon, Jung-Eun ; Kim, In-One ; Kim, Boong-Nyun ; Chae, Jong-Hee</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c616t-392f802127d467b780c392ef351aab9e7bdfc103da4b3966097a441ed5b99a1d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Attention Deficit Disorder with Hyperactivity - diagnosis</topic><topic>Attention deficit-hyperactivity disorder</topic><topic>Brain - pathology</topic><topic>Child</topic><topic>Female</topic><topic>Female carrier</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Magnetic Resonance Imaging</topic><topic>Magnetic Resonance Spectroscopy</topic><topic>Mutation</topic><topic>Neurology</topic><topic>Ornithine Carbamoyltransferase - genetics</topic><topic>Ornithine carbamoyltransferase deficiency</topic><topic>Ornithine Carbamoyltransferase Deficiency Disease - diagnosis</topic><topic>Ornithine Carbamoyltransferase Deficiency Disease - pathology</topic><topic>Stroke</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kim, Se Hee</creatorcontrib><creatorcontrib>Lee, Jin Sook</creatorcontrib><creatorcontrib>Lim, Byung Chan</creatorcontrib><creatorcontrib>Kim, Ki Joong</creatorcontrib><creatorcontrib>Hwang, Yong Seoung</creatorcontrib><creatorcontrib>Park, June Dong</creatorcontrib><creatorcontrib>Cheon, Jung-Eun</creatorcontrib><creatorcontrib>Kim, In-One</creatorcontrib><creatorcontrib>Kim, Boong-Nyun</creatorcontrib><creatorcontrib>Chae, Jong-Hee</creatorcontrib><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><collection>Neurosciences Abstracts</collection><jtitle>Brain & development (Tokyo. 1979)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kim, Se Hee</au><au>Lee, Jin Sook</au><au>Lim, Byung Chan</au><au>Kim, Ki Joong</au><au>Hwang, Yong Seoung</au><au>Park, June Dong</au><au>Cheon, Jung-Eun</au><au>Kim, In-One</au><au>Kim, Boong-Nyun</au><au>Chae, Jong-Hee</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A female carrier of ornithine carbamoyltransferase deficiency masquerading as attention deficit-hyperactivity disorder</atitle><jtitle>Brain & development (Tokyo. 1979)</jtitle><addtitle>Brain Dev</addtitle><date>2014-09-01</date><risdate>2014</risdate><volume>36</volume><issue>8</issue><spage>734</spage><epage>737</epage><pages>734-737</pages><issn>0387-7604</issn><eissn>1872-7131</eissn><abstract>Abstract Many females who are heterozygous for ornithine carbamoyltransferase (OTC) deficiency are asymptomatic or intermittently symptomatic with great phenotypic variability. Therefore, the diagnosis of this condition is occasionally a challenge and is often delayed. A 12-year-old girl who was initially diagnosed as having attention deficit-hyperactivity disorder (ADHD) became comatose and developed right-sided hemiparesis during her psychiatric admission. Brain magnetic resonance imaging indicated diffuse but extensive swelling in the left hemisphere with multiple lesions suggestive of an old infarction. Repeated evaluations revealed hyperammonemia and orotic aciduria, and she was diagnosed as having an OTC deficiency. Genetic analysis revealed a heterozygous mutation of N47I in the X-linked OTC gene. Her mental status and hemiparesis improved after hyperammonemia treatment. Here, we report a rare case of a manifestating female carrier with severe symptoms of OTC deficiency masquerading as ADHD.</abstract><cop>Netherlands</cop><pub>Elsevier B.V</pub><pmid>24199608</pmid><doi>10.1016/j.braindev.2013.09.009</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0387-7604 |
| ispartof | Brain & development (Tokyo. 1979), 2014-09, Vol.36 (8), p.734-737 |
| issn | 0387-7604 1872-7131 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_1560111611 |
| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Attention Deficit Disorder with Hyperactivity - diagnosis Attention deficit-hyperactivity disorder Brain - pathology Child Female Female carrier Heterozygote Humans Magnetic Resonance Imaging Magnetic Resonance Spectroscopy Mutation Neurology Ornithine Carbamoyltransferase - genetics Ornithine carbamoyltransferase deficiency Ornithine Carbamoyltransferase Deficiency Disease - diagnosis Ornithine Carbamoyltransferase Deficiency Disease - pathology Stroke |
| title | A female carrier of ornithine carbamoyltransferase deficiency masquerading as attention deficit-hyperactivity disorder |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-02T08%3A39%3A53IST&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=A%20female%20carrier%20of%20ornithine%20carbamoyltransferase%20deficiency%20masquerading%20as%20attention%20deficit-hyperactivity%20disorder&rft.jtitle=Brain%20&%20development%20(Tokyo.%201979)&rft.au=Kim,%20Se%20Hee&rft.date=2014-09-01&rft.volume=36&rft.issue=8&rft.spage=734&rft.epage=737&rft.pages=734-737&rft.issn=0387-7604&rft.eissn=1872-7131&rft_id=info:doi/10.1016/j.braindev.2013.09.009&rft_dat=%3Cproquest_cross%3E1560111611%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=1548192284&rft_id=info:pmid/24199608&rft_els_id=1_s2_0_S038776041300291X&rfr_iscdi=true |