{"id":556,"date":"2019-08-28T10:51:42","date_gmt":"2019-08-28T02:51:42","guid":{"rendered":"http:\/\/u5.cfoh.org.tw\/?page_id=556"},"modified":"2026-06-18T14:20:20","modified_gmt":"2026-06-18T06:20:20","slug":"cit-i","status":"publish","type":"page","link":"https:\/\/www.cfoh.org.tw\/index.php\/item\/cit-i\/","title":{"rendered":"\u74dc\u80fa\u9178\u8840\u75c7\u7b2c\u4e00\u578b (CIT I)"},"content":{"rendered":"\n<p><span style=\"font-size: 14pt;\"><strong>\u4ec0\u9ebc\u662f\u74dc\u80fa\u9178\u8840\u75c7\u7b2c\u4e00\u578b\uff1f<\/strong><\/span><\/p>\n<p style=\"padding-left: 40px; text-align: justify;\">\u74dc\u80fa\u9178\u8840\u75c7\u7b2c\u4e00\u578b\u70ba\u5c3f\u7d20\u5faa\u74b0\u969c\u7919(Urea Cycle disorder)\u7684\u75be\u75c5\u4e4b\u4e00\uff0c\u4eba\u9ad4\u651d\u53d6\u86cb\u767d\u8cea\u548c\u6c28\u57fa\u9178\u7d93\u7531\u4ee3\u8b1d\u5f8c\u7522\u751f\u6709\u6bd2\u7684\u8840\u6c28\u9700\u85c9\u7531\u809d\u81df\u6703\u9032\u884c\u5c3f\u7d20\u5faa\u74b0(urea cycle)\u53cd\u61c9\uff0c\u628a\u8840\u6c28\u8f49\u63db\u6210\u8f03\u7121\u6bd2\u6027\u7684\u5c3f\u7d20\uff0c\u900f\u904e\u5c3f\u6db2\u6392\u9664\u5230\u9ad4\u5916\u3002\u74dc\u80fa\u9178\u8840\u75c7\u7b2c\u4e00\u578b\u60a3\u8005\u56e0\u7cbe\u80fa\u4e01\u4e8c\u9178\u5408\u6210\u9175\u7d20(Argininosuccinate synthetase) \u7684\u529f\u80fd\u7570\u5e38\u6240\u5c0e\u81f4\u5e38\u56e0\u7121\u6cd5\u4ee3\u8b1d\u8840\u6c28\uff0c\u800c\u9020\u6210\u9ad8\u8840\u6c28\u75c7\u3002<\/p>\n<p><span style=\"font-size: 14pt;\"><strong>\u74dc\u80fa\u9178\u8840\u75c7\u7b2c\u4e00\u578b\u60a3\u8005\u75c7\u72c0<\/strong><\/span><\/p>\n<p style=\"padding-left: 40px; text-align: justify;\">\u81e8\u5e8a\u60a3\u8005\u767c\u75c5\u7684\u6642\u9593\u8b8a\u7570\u5f88\u5927\uff0c\u6709\u7684\u5728\u51fa\u751f24\u5c0f\u6642\u4fbf\u6703\u51fa\u73fe\u75c7\u72c0\uff0c\u4f46\u4ea6\u6709\u81f3\u5e7c\u5152\u671f\u6216\u66f4\u665a\u624d\u767c\u75c5\u3002\u53ef\u5206\u65b0\u751f\u5152\u578b\u53ca\u9072\u767c\u578b<\/p>\n<ul>\n<li style=\"text-align: justify;\"><strong>\u65b0\u751f\u5152\u578b<\/strong>\uff1a\u65b0\u751f\u5152\u671f\u767c\u75c5\uff0c\u901a\u5e38\u5728\u51fa\u751f\u5f8c\u5e7e\u5929\u75c7\u72c0\u9010\u6f38\u660e\u986f\u3002\u51fa\u751f\u6642\u901a\u5e38\u770b\u8d77\u4f86\u6b63\u5e38\uff0c\u4f46\u96a8\u8457\u6c28\u7a4d\u7d2f\uff0c\u4ed6\u5011\u6703\u9010\u6f38\u7f3a\u4e4f\u80fd\u91cf\uff08\u55dc\u7761\uff09\u3001\u9935\u98df\u6b20\u4f73\u3001\u5614\u5410\u3001\u7672\u7647\u767c\u4f5c\u548c\u610f\u8b58\u55aa\u5931\uff0c\u90e8\u5206\u500b\u9ad4\u767c\u5c55\u70ba\u56b4\u91cd\u809d\u554f\u984c\u3002\u5982\u679c\u6c92\u6709\u9069\u7576\u7684\u6cbb\u7642\uff0c\u5927\u90e8\u4efd\u7684\u75c5\u4eba\u90fd\u6703\u6b7b\u4ea1\u6216\u7522\u751f\u4f75\u767c\u75c7\u3002<\/li>\n<li style=\"text-align: justify;\"><strong>\u9072\u767c\u578b<\/strong>\uff1a\u74dc\u80fa\u9178\u8840\u75c7\u7b2c\u4e00\u578b\u8f03\u8f15\u5fae\u7684\u5f62\u5f0f\uff0c\u53ef\u80fd\u5728\u5152\u7ae5\u671f\u6216\u6210\u5e74\u671f\u5f8c\u671f\u767c\u75c5\u3002\u75c7\u72c0\u5305\u542b\u5f37\u70c8\u982d\u75db\u3001\u8996\u529b\u76f2\u9ede\u3001\u504f\u982d\u75db\u767c\u4f5c\u3001\u5e73\u8861\u548c\u808c\u8089\u5354\u8abf\u554f\u984c\u548c\u55dc\u7761\u3002\u5e38\u56e0\u767c\u71d2\u3001\u611f\u67d3\u7b49\u58d3\u529b\u4e8b\u4ef6\u5c0e\u81f4\u9ad8\u8840\u6c28\uff0c\u8868\u73fe\u51fa\u547c\u5438\u6027\u9e7c\u4e2d\u6bd2\u548c\u547c\u5438\u6025\u4fc3\u3002<\/li>\n<\/ul>\n<p><span style=\"font-size: 14pt;\"><strong>\u767c\u751f\u7387\u53ca\u907a\u50b3\u6a21\u5f0f<\/strong><\/span><\/p>\n<p style=\"padding-left: 40px; text-align: justify;\">\u76ee\u524d\u74dc\u80fa\u9178\u8840\u75c7\u5df2\u5217\u70ba\u6211\u570b\u516c\u544a\u7f55\u898b\u75be\u75c5\uff0c\u53f0\u7063\u5730\u5340\u7684\u767c\u751f\u7387\u7d04\u70ba1\/130,000\u3002<\/p>\n<p style=\"padding-left: 40px; text-align: justify;\">\u6b64\u75be\u75c5\u907a\u50b3\u6a21\u5f0f\u70ba\u9ad4\u67d3\u8272\u9ad4\u96b1\u6027\u907a\u50b3\uff0c\u57fa\u56e0(<em>ASS1<\/em>\u57fa\u56e0)\u4f4d\u65bc\u7b2c9\u865f\u67d3\u8272\u9ad4\u7684\u9577\u81c2(9q34.11)\u4e0a\u3002<em>ASS1<\/em>\u57fa\u56e0\u7a81\u8b8a\u9020\u6210\u9ad4\u5167\u7cbe\u80fa\u4e01\u4e8c\u9178\u5408\u6210\u9175\u7d20\u964d\u4f4e\uff0c\u5c0e\u81f4\u8840\u6db2\u4e2d\u6c28\u6c34\u5e73\u589e\u52a0\u3002<\/p>\n<p><span style=\"font-size: 14pt;\"><strong>\u65b0\u751f\u5152\u7be9\u6aa2\u7591\u967d\u6027\u4e4b\u8655\u7406<\/strong><\/span><\/p>\n<p style=\"padding-left: 40px; text-align: justify;\">\u65b0\u751f\u5152\u7be9\u6aa2\u65b9\u6cd5\u70ba\u5229\u7528\u4e32\u806f\u8cea\u8b5c\u5100\u6e2c\u91cf\u9ad4\u5167\u8840\u4e2d\u74dc\u80fa\u9178(Citrilline)\u6fc3\u5ea6\u3002\u7576\u74dc\u80fa\u9178\u6fc3\u5ea6\u9ad8\u65bc\u6b63\u5e38\u503c\uff0c\u800c\u63a5\u7372\u63a1\u96c6\u9662\u6240\u901a\u77e5\u6642\uff0c\u8acb\u5118\u901f\u914d\u5408\u91ab\u7642\u4eba\u54e1\u6307\u793a\u9032\u884c\u8907\u6aa2\u3002\u82e5\u65b0\u751f\u5152\u6709\u76f8\u95dc\u81e8\u5e8a\u75c7\u72c0\u6642\uff0c\u8acb\u7acb\u5373\u8207\u65b0\u751f\u5152\u7be9\u6aa2\u4e2d\u5fc3\u6216\u7576\u5730\u6240\u5c6c\u8f49\u4ecb\u91ab\u9662\u91ab\u5e2b\u806f\u7d61\uff0c\u5c0b\u6c42\u53ca\u6642\u7684\u91ab\u7642\u5354\u52a9\u3002<\/p>\n<p><span style=\"font-size: 14pt;\"><strong>\u74dc\u80fa\u9178\u8840\u75c7\u7b2c\u4e00\u578b\u78ba\u8a3a\u8a55\u4f30\u65b9\u5f0f<\/strong><\/span><\/p>\n<ul>\n<li style=\"text-align: justify;\">\u81e8\u5e8a\u75c7\u72c0\u8a55\u4f30<\/li>\n<li style=\"text-align: justify;\">\u5bb6\u65cf\u53f2\u53ca\u5bb6\u65cf\u5206\u6790<\/li>\n<li style=\"text-align: justify;\">\u8840\u6f3f\u80fa\u57fa\u9178\u5206\u6790\u986f\u793a\u74dc\u80fa\u9178\u5927\u5e45\u4e0a\u5347(\u901a\u5e38&gt;1000 \u00b5mol\/L)\u4f75\u6709\u9ad8\u8840\u6c28\u75c7(&gt;150 \u00b5mol\/L)<\/li>\n<li style=\"text-align: justify;\"><em>ASS1<\/em>\u57fa\u56e0\u7a81\u8b8a\u5206\u6790<\/li>\n<li style=\"text-align: justify;\">\u6aa2\u6e2c\u809d\u81df\u7d30\u80de\u6216\u76ae\u819a\u7e96\u7dad\u6bcd\u7d30\u80de\u7cbe\u80fa\u4e01\u4e8c\u9178\u5408\u6210\u9175\u7d20\u7684\u6d3b\u6027<\/li>\n<\/ul>\n<p><span style=\"font-size: 14pt;\"><strong>\u74dc\u80fa\u9178\u8840\u75c7\u7b2c\u4e00\u578b\u6cbb\u7642\u65b9\u5f0f<\/strong><\/span><\/p>\n<ul>\n<li style=\"text-align: justify;\">\u9ad8\u8840\u6c28\u6025\u6027\u671f\u6cbb\u7642\uff1a\n<ul style=\"list-style-type: square;\">\n<li>\u5feb\u901f\u964d\u4f4e\u8840\u6c28\u6fc3\u5ea6\uff1a\u5229\u7528\u85e5\u7269\uff08\u5b89\u606f\u9999\u9178\u9209(sodium benzoate)\u3001\u4e59\u9178\u82ef\u916f\u9209(sodium phenylacetate)\u7b49\uff09\u79fb\u9664\u6709\u6bd2\u4ee3\u8b1d\u7269\u8cea\uff0c\u88dc\u5145arginine\uff1b\u82e5\u6709\u6301\u7e8c\u6027\u9ad8\u8840\u6c28\u75c7\u7121\u6cd5\u5229\u7528\u85e5\u7269\u53ca\u8f38\u6db2\u6539\u5584\u8005\uff0c\u5247\u53ef\u8003\u616e\u5229\u7528\u8840\u6db2\u900f\u6790\u65b9\u5f0f\u3002<\/li>\n<li>\u00a0\u9006\u8f49\u5206\u89e3\u4ee3\u8b1d\uff1a24-36\u5c0f\u6642\u5167\u5148\u66ab\u6642\u505c\u6b62\u6240\u6709\u86cb\u767d\u8cea\u651d\u53d6\uff0c\u76e1\u5feb\u6062\u5fa9\u8178\u9053\u9032\u98df\uff0c\u5982\u7121\u6cd5\u572848\u5c0f\u6642\u5167\u6062\u5fa9\uff0c\u61c9\u958b\u59cb\u4f7f\u7528\u5168\u975c\u8108\u71df\u990a\uff0c\u88dc\u5145\u6240\u9700\u7684\u86cb\u767d\u8cea\u3002\u975c\u8108\u9ede\u6ef4\u63d0\u4f9b\u57fa\u672c\u71b1\u91cf\u9700\u6c42\u91cf\u7684100-150%\uff1b\u53ef\u52a0\u4e0a\u8102\u80aa\u8f38\u6db2\u3002<\/li>\n<li>\u6cbb\u7642\u52a0\u91cd\u56e0\u7d20(\u767c\u71d2\u3001\u611f\u67d3\u3001\u812b\u6c34\u3001\u75bc\u75db\u3001\u5614\u5410\u7b49) \u3002<\/li>\n<li>\u77ef\u6b63\u904e\u9ad8\u7684\u8166\u58d3\u3002<\/li>\n<\/ul>\n<\/li>\n<li style=\"text-align: justify;\">\u9577\u671f\u7684\u6cbb\u7642\uff1a\n<ul style=\"list-style-type: square;\">\n<li>\u60a3\u8005\u9700\u9650\u5236\u86cb\u767d\u8cea\u7684\u651d\u53d6\uff0c\u4e26\u9700\u8981\u651d\u53d6\u8db3\u5920\u71df\u990a\u7d20\u4ee5\u4f9b\u7dad\u6301\u6b63\u5e38\u751f\u9577\u767c\u80b2\u6240\u9700\u3002<\/li>\n<li>\u4f7f\u7528\u964d\u8840\u6c28\u85e5\u7269\u5e6b\u52a9\u8840\u6c28\u7dad\u6301\u5728\u6b63\u5e38\u7bc4\u570d\u3002<\/li>\n<li>\u907f\u514d\u611f\u67d3\u3002<\/li>\n<li>\u8003\u616e\u809d\u81df\u79fb\u690d\u3002<\/li>\n<\/ul>\n<\/li>\n<li>\u6cbb\u7642\u76e3\u6e2c\u65b9\u5f0f\uff1a\n<ul style=\"list-style-type: square;\">\n<li style=\"text-align: justify;\">\u5e73\u6642\u61c9\u63a7\u5236\u86cb\u767d\u8cea\u7684\u651d\u53d6\uff0c\u53ca\u907f\u514d\u611f\u67d3\u554f\u984c\u7684\u767c\u751f\uff0c\u7559\u610f\u9ad8\u8840\u6c28\u5373\u5c07\u767c\u751f\u7684\u8868\u5fb5\uff1b\u5305\u62ec\uff1a\u610f\u8b58\u6539\u8b8a\u3001\u982d\u75db\u3001\u55dc\u7761(lethargy)\u3001\u5641\u5fc3(nausea)\u3001\u5614\u5410\u3001\u98df\u617e\u4e0d\u4f73\u3001\u62d2\u98df(refusal to feed)\u7b49\u3002<\/li>\n<li style=\"text-align: justify;\">\u5b9a\u671f1~3\u500b\u6708\u76e3\u6e2c\u751f\u9577\u767c\u80b2\u3001\u8840\u6c28\u3001\u809d\u529f\u80fd\u3001\u8840\u6f3f\u80fa\u57fa\u9178\u5206\u6790\u3001\u71df\u990a\u72c0\u6cc1\u3001\u751f\u9577\u53ca\u767c\u5c55\u72c0\u614b\u3002\u4e26\u5b9a\u671f\u4f50\u4ee5\u667a\u529b\u6e2c\u9a57\u8207\u8166\u90e8\u6838\u78c1\u5171\u632f\u6aa2\u67e5\u8a55\u4f30\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<h3><strong><span style=\"font-size: 14pt;\">\u74dc\u80fa\u9178\u8840\u75c7\u7b2c\u4e00\u578b\u7684\u7be9\u6aa2\u65b9\u6cd5<\/span><\/strong><\/h3>\n<ul>\n<li style=\"text-align: justify;\">\u6aa2\u9a57\u65b9\u5f0f\uff1a\u751f\u5316\u6aa2\u9a57\uff0c\u4f7f\u7528\u542b\u7a69\u5b9a\u540c\u4f4d\u7d20\u6a19\u8a18\u7684\u5167\u90e8\u6a19\u6e96\u54c1\uff08Internal Standard\uff09\u6eb6\u5291\u8403\u53d6\u4e7e\u71e5\u8840\u9ede\u4e2d\u7684\u80fa\u57fa\u9178\uff0c\u518d\u4ee5\u4e32\u806f\u8cea\u8b5c\u5100\uff08MS\/MS\uff09\u9032\u884c\u5206\u6790\u3002\uff08111.3-\u81f3\u4eca\uff09<\/li>\n<li style=\"text-align: justify;\">\u6aa2\u9a57\u8a66\u5291\uff1aNeoBase<sup>TM<\/sup>\u00a02 Non-derivatized MSMS kit\uff08PerkinElmer\uff09<\/li>\n<\/ul>\n<p>\u00a0<\/p>\n","protected":false},"excerpt":{"rendered":"<p>\u4ec0\u9ebc\u662f\u74dc\u80fa\u9178\u8840\u75c7\u7b2c\u4e00\u578b\uff1f \u74dc\u80fa\u9178\u8840\u75c7\u7b2c\u4e00\u578b\u70ba\u5c3f\u7d20\u5faa\u74b0\u969c\u7919(Urea Cycle disorder)\u7684\u75be\u75c5\u4e4b\u4e00\uff0c &#8230; <a title=\"\u74dc\u80fa\u9178\u8840\u75c7\u7b2c\u4e00\u578b (CIT I)\" class=\"read-more\" href=\"https:\/\/www.cfoh.org.tw\/index.php\/item\/cit-i\/\" aria-label=\"\u95b1\u8b80\u3008\u74dc\u80fa\u9178\u8840\u75c7\u7b2c\u4e00\u578b (CIT I)\u3009\u5168\u6587\">\u95b1\u8b80\u5168\u6587<\/a><\/p>\n","protected":false},"author":4,"featured_media":0,"parent":781,"menu_order":12,"comment_status":"closed","ping_status":"closed","template":"","meta":{"jetpack_post_was_ever_published":false,"footnotes":""},"jetpack_sharing_enabled":true,"jetpack_shortlink":"https:\/\/wp.me\/P9uzrk-8Y","_links":{"self":[{"href":"https:\/\/www.cfoh.org.tw\/index.php\/wp-json\/wp\/v2\/pages\/556"}],"collection":[{"href":"https:\/\/www.cfoh.org.tw\/index.php\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.cfoh.org.tw\/index.php\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.cfoh.org.tw\/index.php\/wp-json\/wp\/v2\/users\/4"}],"replies":[{"embeddable":true,"href":"https:\/\/www.cfoh.org.tw\/index.php\/wp-json\/wp\/v2\/comments?post=556"}],"version-history":[{"count":12,"href":"https:\/\/www.cfoh.org.tw\/index.php\/wp-json\/wp\/v2\/pages\/556\/revisions"}],"predecessor-version":[{"id":2957,"href":"https:\/\/www.cfoh.org.tw\/index.php\/wp-json\/wp\/v2\/pages\/556\/revisions\/2957"}],"up":[{"embeddable":true,"href":"https:\/\/www.cfoh.org.tw\/index.php\/wp-json\/wp\/v2\/pages\/781"}],"wp:attachment":[{"href":"https:\/\/www.cfoh.org.tw\/index.php\/wp-json\/wp\/v2\/media?parent=556"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}