Type II Citrullinemia Associated with Neutropenia
A 37-year-old Japanese man was admitted with delirium and hyperammonemia. He was diagnosed as having type II citrullinemia because of an elevated citrulline level on amino acid analysis and very low hepatic argininosuccinate synthetase activity. He also showed a low neutrophil count and a low serum...
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Veröffentlicht in: | Internal Medicine 1995, Vol.34(7), pp.679-682 |
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container_title | Internal Medicine |
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creator | KAMIYA, Yuji HORIKOSHI, Tsutomu TAKAGI, Hitoshi OKADA, Shuichi HASHIMOTO, Kohshi KIDO, Chiyuki TAKEHARA, Ken NAGAMINE, Takeaki SEKIGUCHI, Toshikazu MORI, Masatomo |
description | A 37-year-old Japanese man was admitted with delirium and hyperammonemia. He was diagnosed as having type II citrullinemia because of an elevated citrulline level on amino acid analysis and very low hepatic argininosuccinate synthetase activity. He also showed a low neutrophil count and a low serum level of granulocyte colony-stimulating factor. Reduced production of this cytokine and/or impairment of its feedback regulation by the neutrophil count may have played a role in the neutropenia of this patient. (Internal Medicine 34: 679-682, 1995) |
doi_str_mv | 10.2169/internalmedicine.34.679 |
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He was diagnosed as having type II citrullinemia because of an elevated citrulline level on amino acid analysis and very low hepatic argininosuccinate synthetase activity. He also showed a low neutrophil count and a low serum level of granulocyte colony-stimulating factor. Reduced production of this cytokine and/or impairment of its feedback regulation by the neutrophil count may have played a role in the neutropenia of this patient. (Internal Medicine 34: 679-682, 1995)</description><identifier>ISSN: 0918-2918</identifier><identifier>EISSN: 1349-7235</identifier><identifier>DOI: 10.2169/internalmedicine.34.679</identifier><identifier>PMID: 7496085</identifier><language>eng</language><publisher>Tokyo: The Japanese Society of Internal Medicine</publisher><subject>Adult ; Argininosuccinate Synthase - deficiency ; argininosuccinate synthetase ; Biological and medical sciences ; Citrulline - blood ; granulocyte colony-stimulating factor ; Granulocyte Colony-Stimulating Factor - deficiency ; Humans ; Male ; Medical sciences ; Metabolic diseases ; Miscellaneous ; Neutropenia - diagnosis ; Neutropenia - etiology ; Neutropenia - metabolism ; Other metabolic disorders</subject><ispartof>Internal Medicine, 1995, Vol.34(7), pp.679-682</ispartof><rights>The Japanese Society of Internal Medicine</rights><rights>1995 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c525t-f39a8f30ef2bcb7826dd700fca27ca013daf613a071ac2e4fde926d00147ff113</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,1876,4009,27902,27903,27904</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3658338$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7496085$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>KAMIYA, Yuji</creatorcontrib><creatorcontrib>HORIKOSHI, Tsutomu</creatorcontrib><creatorcontrib>TAKAGI, Hitoshi</creatorcontrib><creatorcontrib>OKADA, Shuichi</creatorcontrib><creatorcontrib>HASHIMOTO, Kohshi</creatorcontrib><creatorcontrib>KIDO, Chiyuki</creatorcontrib><creatorcontrib>TAKEHARA, Ken</creatorcontrib><creatorcontrib>NAGAMINE, Takeaki</creatorcontrib><creatorcontrib>SEKIGUCHI, Toshikazu</creatorcontrib><creatorcontrib>MORI, Masatomo</creatorcontrib><title>Type II Citrullinemia Associated with Neutropenia</title><title>Internal Medicine</title><addtitle>Intern. Med.</addtitle><description>A 37-year-old Japanese man was admitted with delirium and hyperammonemia. He was diagnosed as having type II citrullinemia because of an elevated citrulline level on amino acid analysis and very low hepatic argininosuccinate synthetase activity. He also showed a low neutrophil count and a low serum level of granulocyte colony-stimulating factor. Reduced production of this cytokine and/or impairment of its feedback regulation by the neutrophil count may have played a role in the neutropenia of this patient. (Internal Medicine 34: 679-682, 1995)</description><subject>Adult</subject><subject>Argininosuccinate Synthase - deficiency</subject><subject>argininosuccinate synthetase</subject><subject>Biological and medical sciences</subject><subject>Citrulline - blood</subject><subject>granulocyte colony-stimulating factor</subject><subject>Granulocyte Colony-Stimulating Factor - deficiency</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Miscellaneous</subject><subject>Neutropenia - diagnosis</subject><subject>Neutropenia - etiology</subject><subject>Neutropenia - metabolism</subject><subject>Other metabolic disorders</subject><issn>0918-2918</issn><issn>1349-7235</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1995</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNplkEtPwzAQhC0EgvL4CYgcELcUP5LYPqKKRyUEHOBsbZ01GKVJsR0h_j2uWvUAl9nDfDu7GkIuGJ1y1uhr3ycMPXRLbL31PU5FNW2k3iMTJipdSi7qfTKhmqmSZzkixzF-UiqU1PyQHMpKN1TVE8Jef1ZYzOfFzKcwdl2OWnoobmIcrIeEbfHt00fxhGMKwwp7D6fkwEEX8Ww7T8jb3e3r7KF8fL6fz24eS1vzOpVOaFBOUHR8YRdS8aZtJaXOApcWKBMtuIYJoJKB5Vi5FnVmKGWVdI4xcUKuNrmrMHyNGJNZ-mix66DHYYxGylppJdag3IA2DDEGdGYV_BLCj2HUrMsyf8syojK5rLx5vj0xLrK329u2k_3LrQ_RQucC9NbHHSaaWgmhMvaywT5jgnfc-RCStx3-O8-05usX5EbyJzvUfkAw2ItfHBOVGw</recordid><startdate>1995</startdate><enddate>1995</enddate><creator>KAMIYA, Yuji</creator><creator>HORIKOSHI, Tsutomu</creator><creator>TAKAGI, Hitoshi</creator><creator>OKADA, Shuichi</creator><creator>HASHIMOTO, Kohshi</creator><creator>KIDO, Chiyuki</creator><creator>TAKEHARA, Ken</creator><creator>NAGAMINE, Takeaki</creator><creator>SEKIGUCHI, Toshikazu</creator><creator>MORI, Masatomo</creator><general>The Japanese Society of Internal Medicine</general><general>Japanese Society of Internal Medicine</general><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>1995</creationdate><title>Type II Citrullinemia Associated with Neutropenia</title><author>KAMIYA, Yuji ; HORIKOSHI, Tsutomu ; TAKAGI, Hitoshi ; OKADA, Shuichi ; HASHIMOTO, Kohshi ; KIDO, Chiyuki ; TAKEHARA, Ken ; NAGAMINE, Takeaki ; SEKIGUCHI, Toshikazu ; MORI, Masatomo</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c525t-f39a8f30ef2bcb7826dd700fca27ca013daf613a071ac2e4fde926d00147ff113</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1995</creationdate><topic>Adult</topic><topic>Argininosuccinate Synthase - deficiency</topic><topic>argininosuccinate synthetase</topic><topic>Biological and medical sciences</topic><topic>Citrulline - blood</topic><topic>granulocyte colony-stimulating factor</topic><topic>Granulocyte Colony-Stimulating Factor - deficiency</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Miscellaneous</topic><topic>Neutropenia - diagnosis</topic><topic>Neutropenia - etiology</topic><topic>Neutropenia - metabolism</topic><topic>Other metabolic disorders</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>KAMIYA, Yuji</creatorcontrib><creatorcontrib>HORIKOSHI, Tsutomu</creatorcontrib><creatorcontrib>TAKAGI, Hitoshi</creatorcontrib><creatorcontrib>OKADA, Shuichi</creatorcontrib><creatorcontrib>HASHIMOTO, Kohshi</creatorcontrib><creatorcontrib>KIDO, Chiyuki</creatorcontrib><creatorcontrib>TAKEHARA, Ken</creatorcontrib><creatorcontrib>NAGAMINE, Takeaki</creatorcontrib><creatorcontrib>SEKIGUCHI, Toshikazu</creatorcontrib><creatorcontrib>MORI, Masatomo</creatorcontrib><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>Internal Medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>KAMIYA, Yuji</au><au>HORIKOSHI, Tsutomu</au><au>TAKAGI, Hitoshi</au><au>OKADA, Shuichi</au><au>HASHIMOTO, Kohshi</au><au>KIDO, Chiyuki</au><au>TAKEHARA, Ken</au><au>NAGAMINE, Takeaki</au><au>SEKIGUCHI, Toshikazu</au><au>MORI, Masatomo</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Type II Citrullinemia Associated with Neutropenia</atitle><jtitle>Internal Medicine</jtitle><addtitle>Intern. Med.</addtitle><date>1995</date><risdate>1995</risdate><volume>34</volume><issue>7</issue><spage>679</spage><epage>682</epage><pages>679-682</pages><issn>0918-2918</issn><eissn>1349-7235</eissn><abstract>A 37-year-old Japanese man was admitted with delirium and hyperammonemia. He was diagnosed as having type II citrullinemia because of an elevated citrulline level on amino acid analysis and very low hepatic argininosuccinate synthetase activity. He also showed a low neutrophil count and a low serum level of granulocyte colony-stimulating factor. Reduced production of this cytokine and/or impairment of its feedback regulation by the neutrophil count may have played a role in the neutropenia of this patient. (Internal Medicine 34: 679-682, 1995)</abstract><cop>Tokyo</cop><pub>The Japanese Society of Internal Medicine</pub><pmid>7496085</pmid><doi>10.2169/internalmedicine.34.679</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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subjects | Adult Argininosuccinate Synthase - deficiency argininosuccinate synthetase Biological and medical sciences Citrulline - blood granulocyte colony-stimulating factor Granulocyte Colony-Stimulating Factor - deficiency Humans Male Medical sciences Metabolic diseases Miscellaneous Neutropenia - diagnosis Neutropenia - etiology Neutropenia - metabolism Other metabolic disorders |
title | Type II Citrullinemia Associated with Neutropenia |
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