Recurrent hepatic failure and status epilepticus: an uncommon presentation of hyperargininemia
Argininemia is a rare hereditary disease due to a deficiency of hepatic arginase, which is the last enzyme of the urea cycle and hydrolyzes arginine to ornithine and urea. Herein we report a patient with arginase I (ARG1) deficiency who presented with recurrent nonconvulsive status epilepticus and l...
Gespeichert in:
| Veröffentlicht in: | Metabolic brain disease 2018-10, Vol.33 (5), p.1775-1778 |
|---|---|
| Hauptverfasser: | , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 1778 |
|---|---|
| container_issue | 5 |
| container_start_page | 1775 |
| container_title | Metabolic brain disease |
| container_volume | 33 |
| creator | Yucel, Husniye Kasapkara, Çiğdem Seher Akcaboy, Meltem Aksoy, Erhan Sahin, Gülseren Evirgen Derinkuyu, Betul Emine Senel, Saliha Ceylaner, Serdar |
| description | Argininemia is a rare hereditary disease due to a deficiency of hepatic arginase, which is the last enzyme of the urea cycle and hydrolyzes arginine to ornithine and urea. Herein we report a patient with arginase I (ARG1) deficiency who presented with recurrent nonconvulsive status epilepticus and liver failure. A novel homozygous frameshift mutation c.703_707delGGACTinsAGACTGGACC (p.G235Rfs*20) was detected. |
| doi_str_mv | 10.1007/s11011-018-0281-8 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2063733780</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2062044893</sourcerecordid><originalsourceid>FETCH-LOGICAL-c372t-d77f46ffb2c87bc105c8fcf1dbe0b44df4e36f039ab1d027b8e7d74b272641a23</originalsourceid><addsrcrecordid>eNp1kFFr1jAUhoNM3LfNH-CNFHbjTfWcJG3S3cnQKQwE0duFND3ZOtq0Js3F_r35-OaEwa5Ccp73PeFh7B3CRwRQnxIiINaAugausdav2A4bJWol2uaI7UDrplayg2N2ktI9AIgGuzfsmHddi1yKHbv5SS7HSGGr7mi12-gqb8cpR6psGKq02S2nitZxorUMc7oo71UObpnnJVRrpFSyJVcui6_uHlaKNt6OYQw0j_aMvfZ2SvT28Txlv79--XX5rb7-cfX98vN17YTiWz0o5WXrfc-dVr1DaJz2zuPQE_RSDl6SaD2IzvY4AFe9JjUo2XPFW4mWi1P24dC7xuVPprSZeUyOpskGWnIyHFqhhFAaCnr-DL1fcgzld3uKg5S6E4XCA-XiklIkb9Y4zjY-GASzl28O8k2Rb_byjS6Z94_NuZ9peEr8s10AfgBSGYVbiv9Xv9z6FyWtkJc</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2062044893</pqid></control><display><type>article</type><title>Recurrent hepatic failure and status epilepticus: an uncommon presentation of hyperargininemia</title><source>MEDLINE</source><source>SpringerLink Journals - AutoHoldings</source><creator>Yucel, Husniye ; Kasapkara, Çiğdem Seher ; Akcaboy, Meltem ; Aksoy, Erhan ; Sahin, Gülseren Evirgen ; Derinkuyu, Betul Emine ; Senel, Saliha ; Ceylaner, Serdar</creator><creatorcontrib>Yucel, Husniye ; Kasapkara, Çiğdem Seher ; Akcaboy, Meltem ; Aksoy, Erhan ; Sahin, Gülseren Evirgen ; Derinkuyu, Betul Emine ; Senel, Saliha ; Ceylaner, Serdar</creatorcontrib><description>Argininemia is a rare hereditary disease due to a deficiency of hepatic arginase, which is the last enzyme of the urea cycle and hydrolyzes arginine to ornithine and urea. Herein we report a patient with arginase I (ARG1) deficiency who presented with recurrent nonconvulsive status epilepticus and liver failure. A novel homozygous frameshift mutation c.703_707delGGACTinsAGACTGGACC (p.G235Rfs*20) was detected.</description><identifier>ISSN: 0885-7490</identifier><identifier>EISSN: 1573-7365</identifier><identifier>DOI: 10.1007/s11011-018-0281-8</identifier><identifier>PMID: 29961243</identifier><language>eng</language><publisher>New York: Springer US</publisher><subject>Arginase ; Arginase - genetics ; Arginine ; Biochemistry ; Biomedical and Life Sciences ; Biomedicine ; Brain - diagnostic imaging ; Child, Preschool ; Epilepsy ; Female ; Frameshift mutation ; Humans ; Hyperargininemia - complications ; Hyperargininemia - diagnostic imaging ; Hyperargininemia - genetics ; Liver ; Liver failure ; Liver Failure - diagnostic imaging ; Liver Failure - etiology ; Liver Failure - genetics ; Magnetic Resonance Imaging ; Metabolic Diseases ; Neurology ; Neurosciences ; Oncology ; Ornithine ; Short Communication ; Status Epilepticus - diagnostic imaging ; Status Epilepticus - etiology ; Status Epilepticus - genetics ; Urea</subject><ispartof>Metabolic brain disease, 2018-10, Vol.33 (5), p.1775-1778</ispartof><rights>Springer Science+Business Media, LLC, part of Springer Nature 2018</rights><rights>Metabolic Brain Disease is a copyright of Springer, (2018). All Rights Reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c372t-d77f46ffb2c87bc105c8fcf1dbe0b44df4e36f039ab1d027b8e7d74b272641a23</citedby><cites>FETCH-LOGICAL-c372t-d77f46ffb2c87bc105c8fcf1dbe0b44df4e36f039ab1d027b8e7d74b272641a23</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s11011-018-0281-8$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s11011-018-0281-8$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/29961243$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Yucel, Husniye</creatorcontrib><creatorcontrib>Kasapkara, Çiğdem Seher</creatorcontrib><creatorcontrib>Akcaboy, Meltem</creatorcontrib><creatorcontrib>Aksoy, Erhan</creatorcontrib><creatorcontrib>Sahin, Gülseren Evirgen</creatorcontrib><creatorcontrib>Derinkuyu, Betul Emine</creatorcontrib><creatorcontrib>Senel, Saliha</creatorcontrib><creatorcontrib>Ceylaner, Serdar</creatorcontrib><title>Recurrent hepatic failure and status epilepticus: an uncommon presentation of hyperargininemia</title><title>Metabolic brain disease</title><addtitle>Metab Brain Dis</addtitle><addtitle>Metab Brain Dis</addtitle><description>Argininemia is a rare hereditary disease due to a deficiency of hepatic arginase, which is the last enzyme of the urea cycle and hydrolyzes arginine to ornithine and urea. Herein we report a patient with arginase I (ARG1) deficiency who presented with recurrent nonconvulsive status epilepticus and liver failure. A novel homozygous frameshift mutation c.703_707delGGACTinsAGACTGGACC (p.G235Rfs*20) was detected.</description><subject>Arginase</subject><subject>Arginase - genetics</subject><subject>Arginine</subject><subject>Biochemistry</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Brain - diagnostic imaging</subject><subject>Child, Preschool</subject><subject>Epilepsy</subject><subject>Female</subject><subject>Frameshift mutation</subject><subject>Humans</subject><subject>Hyperargininemia - complications</subject><subject>Hyperargininemia - diagnostic imaging</subject><subject>Hyperargininemia - genetics</subject><subject>Liver</subject><subject>Liver failure</subject><subject>Liver Failure - diagnostic imaging</subject><subject>Liver Failure - etiology</subject><subject>Liver Failure - genetics</subject><subject>Magnetic Resonance Imaging</subject><subject>Metabolic Diseases</subject><subject>Neurology</subject><subject>Neurosciences</subject><subject>Oncology</subject><subject>Ornithine</subject><subject>Short Communication</subject><subject>Status Epilepticus - diagnostic imaging</subject><subject>Status Epilepticus - etiology</subject><subject>Status Epilepticus - genetics</subject><subject>Urea</subject><issn>0885-7490</issn><issn>1573-7365</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNp1kFFr1jAUhoNM3LfNH-CNFHbjTfWcJG3S3cnQKQwE0duFND3ZOtq0Js3F_r35-OaEwa5Ccp73PeFh7B3CRwRQnxIiINaAugausdav2A4bJWol2uaI7UDrplayg2N2ktI9AIgGuzfsmHddi1yKHbv5SS7HSGGr7mi12-gqb8cpR6psGKq02S2nitZxorUMc7oo71UObpnnJVRrpFSyJVcui6_uHlaKNt6OYQw0j_aMvfZ2SvT28Txlv79--XX5rb7-cfX98vN17YTiWz0o5WXrfc-dVr1DaJz2zuPQE_RSDl6SaD2IzvY4AFe9JjUo2XPFW4mWi1P24dC7xuVPprSZeUyOpskGWnIyHFqhhFAaCnr-DL1fcgzld3uKg5S6E4XCA-XiklIkb9Y4zjY-GASzl28O8k2Rb_byjS6Z94_NuZ9peEr8s10AfgBSGYVbiv9Xv9z6FyWtkJc</recordid><startdate>20181001</startdate><enddate>20181001</enddate><creator>Yucel, Husniye</creator><creator>Kasapkara, Çiğdem Seher</creator><creator>Akcaboy, Meltem</creator><creator>Aksoy, Erhan</creator><creator>Sahin, Gülseren Evirgen</creator><creator>Derinkuyu, Betul Emine</creator><creator>Senel, Saliha</creator><creator>Ceylaner, Serdar</creator><general>Springer US</general><general>Springer Nature 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>3V.</scope><scope>7TK</scope><scope>7U7</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88G</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>C1K</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>M2M</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>7X8</scope></search><sort><creationdate>20181001</creationdate><title>Recurrent hepatic failure and status epilepticus: an uncommon presentation of hyperargininemia</title><author>Yucel, Husniye ; Kasapkara, Çiğdem Seher ; Akcaboy, Meltem ; Aksoy, Erhan ; Sahin, Gülseren Evirgen ; Derinkuyu, Betul Emine ; Senel, Saliha ; Ceylaner, Serdar</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c372t-d77f46ffb2c87bc105c8fcf1dbe0b44df4e36f039ab1d027b8e7d74b272641a23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2018</creationdate><topic>Arginase</topic><topic>Arginase - genetics</topic><topic>Arginine</topic><topic>Biochemistry</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Brain - diagnostic imaging</topic><topic>Child, Preschool</topic><topic>Epilepsy</topic><topic>Female</topic><topic>Frameshift mutation</topic><topic>Humans</topic><topic>Hyperargininemia - complications</topic><topic>Hyperargininemia - diagnostic imaging</topic><topic>Hyperargininemia - genetics</topic><topic>Liver</topic><topic>Liver failure</topic><topic>Liver Failure - diagnostic imaging</topic><topic>Liver Failure - etiology</topic><topic>Liver Failure - genetics</topic><topic>Magnetic Resonance Imaging</topic><topic>Metabolic Diseases</topic><topic>Neurology</topic><topic>Neurosciences</topic><topic>Oncology</topic><topic>Ornithine</topic><topic>Short Communication</topic><topic>Status Epilepticus - diagnostic imaging</topic><topic>Status Epilepticus - etiology</topic><topic>Status Epilepticus - genetics</topic><topic>Urea</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Yucel, Husniye</creatorcontrib><creatorcontrib>Kasapkara, Çiğdem Seher</creatorcontrib><creatorcontrib>Akcaboy, Meltem</creatorcontrib><creatorcontrib>Aksoy, Erhan</creatorcontrib><creatorcontrib>Sahin, Gülseren Evirgen</creatorcontrib><creatorcontrib>Derinkuyu, Betul Emine</creatorcontrib><creatorcontrib>Senel, Saliha</creatorcontrib><creatorcontrib>Ceylaner, Serdar</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Neurosciences Abstracts</collection><collection>Toxicology Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Psychology Database (Alumni)</collection><collection>ProQuest Pharma Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Psychology Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><jtitle>Metabolic brain disease</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Yucel, Husniye</au><au>Kasapkara, Çiğdem Seher</au><au>Akcaboy, Meltem</au><au>Aksoy, Erhan</au><au>Sahin, Gülseren Evirgen</au><au>Derinkuyu, Betul Emine</au><au>Senel, Saliha</au><au>Ceylaner, Serdar</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Recurrent hepatic failure and status epilepticus: an uncommon presentation of hyperargininemia</atitle><jtitle>Metabolic brain disease</jtitle><stitle>Metab Brain Dis</stitle><addtitle>Metab Brain Dis</addtitle><date>2018-10-01</date><risdate>2018</risdate><volume>33</volume><issue>5</issue><spage>1775</spage><epage>1778</epage><pages>1775-1778</pages><issn>0885-7490</issn><eissn>1573-7365</eissn><abstract>Argininemia is a rare hereditary disease due to a deficiency of hepatic arginase, which is the last enzyme of the urea cycle and hydrolyzes arginine to ornithine and urea. Herein we report a patient with arginase I (ARG1) deficiency who presented with recurrent nonconvulsive status epilepticus and liver failure. A novel homozygous frameshift mutation c.703_707delGGACTinsAGACTGGACC (p.G235Rfs*20) was detected.</abstract><cop>New York</cop><pub>Springer US</pub><pmid>29961243</pmid><doi>10.1007/s11011-018-0281-8</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0885-7490 |
| ispartof | Metabolic brain disease, 2018-10, Vol.33 (5), p.1775-1778 |
| issn | 0885-7490 1573-7365 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_2063733780 |
| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | Arginase Arginase - genetics Arginine Biochemistry Biomedical and Life Sciences Biomedicine Brain - diagnostic imaging Child, Preschool Epilepsy Female Frameshift mutation Humans Hyperargininemia - complications Hyperargininemia - diagnostic imaging Hyperargininemia - genetics Liver Liver failure Liver Failure - diagnostic imaging Liver Failure - etiology Liver Failure - genetics Magnetic Resonance Imaging Metabolic Diseases Neurology Neurosciences Oncology Ornithine Short Communication Status Epilepticus - diagnostic imaging Status Epilepticus - etiology Status Epilepticus - genetics Urea |
| title | Recurrent hepatic failure and status epilepticus: an uncommon presentation of hyperargininemia |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-08T16%3A13%3A39IST&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=Recurrent%20hepatic%20failure%20and%20status%20epilepticus:%20an%20uncommon%20presentation%20of%20hyperargininemia&rft.jtitle=Metabolic%20brain%20disease&rft.au=Yucel,%20Husniye&rft.date=2018-10-01&rft.volume=33&rft.issue=5&rft.spage=1775&rft.epage=1778&rft.pages=1775-1778&rft.issn=0885-7490&rft.eissn=1573-7365&rft_id=info:doi/10.1007/s11011-018-0281-8&rft_dat=%3Cproquest_cross%3E2062044893%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=2062044893&rft_id=info:pmid/29961243&rfr_iscdi=true |