{"id":112038,"date":"2025-06-13T14:59:11","date_gmt":"2025-06-13T05:59:11","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/citrullinemia-type-1-overview\/"},"modified":"2025-10-16T14:42:00","modified_gmt":"2025-10-16T05:42:00","slug":"citrullinemia-type-1-overview","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/citrullinemia-type-1-overview\/?lang=zh-hans","title":{"rendered":"\u7cbe\u6c28\u9178\u7425\u73c0\u9178\u5408\u6210\u9176\u7f3a\u4e4f\u75c71\u578b\uff08Citrullinemia Type I\uff0cASS1\uff09"},"content":{"rendered":"\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"border: 4px solid #e9e4f5; background-color: #fcfbff; border-radius: 12px; padding: 1.5rem; margin: 1.5rem 0 2.5rem; font-family: 'Helvetica Neue', sans-serif; line-height: 1.6; box-shadow: 0 2px 8px rgba(0, 0, 0, 0.03);\">\n  <div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/citrullinemia-type-1-overview\/?lang=zh-hans\/#%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E3%81%BE%E3%81%A8%E3%82%81\" >\u3084\u3055\u3057\u3044\u307e\u3068\u3081<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/citrullinemia-type-1-overview\/?lang=zh-hans\/#%E5%8F%97%E5%BD%B1%E5%93%8D%E5%9F%BA%E5%9B%A0%E5%8C%BA%E5%9F%9F\" >\u53d7\u5f71\u54cd\u57fa\u56e0\u533a\u57df<\/a><ul class='ez-toc-list-level-4' ><li 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>\u9884\u540e<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/citrullinemia-type-1-overview\/?lang=zh-hans\/#%E9%81%97%E4%BC%A0%E5%92%A8%E8%AF%A2\" >\u9057\u4f20\u54a8\u8be2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/citrullinemia-type-1-overview\/?lang=zh-hans\/#%E7%BB%93%E8%AE%BA\" >\u7ed3\u8bba<\/a><\/li><\/ul><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top: 0; margin-bottom: 0.75rem; font-size: 1.25rem; color: #7e6cae; text-align: left; border: none; border-bottom: none; padding-bottom: 0; display: block;\"><span class=\"ez-toc-section\" id=\"%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E3%81%BE%E3%81%A8%E3%82%81\"><\/span>\u3084\u3055\u3057\u3044\u307e\u3068\u3081<span class=\"ez-toc-section-end\"><\/span><\/h2>\n  <p style=\"margin: 0; font-size: 1rem; color: #444;\">\n    <p>\n\u7cbe\u6c28\u9178\u7425\u73c0\u9178\u5408\u6210\u9176\u7f3a\u4e4f\u75c71\u578b\uff08Citrullinemia Type I\uff0c\u7b80\u79f0SLOS\uff09\u662f\u4e00\u79cd\u7f55\u89c1\u7684\u9057\u4f20\u6027\u4ee3\u8c22\u75be\u75c5\uff0c\u5f71\u54cd\u5c3f\u7d20\u5faa\u73af\uff0c\u5bfc\u81f4\u65e0\u6cd5\u6709\u6548\u6e05\u9664\u7531\u5206\u89e3\u86cb\u767d\u8d28\u4ea7\u751f\u7684\u6709\u6bd2\u6c28\u3002\u8be5\u75c5\u7531ASS1\u57fa\u56e0\uff08\u7cbe\u6c28\u9178\u7425\u73c0\u9178\u5408\u6210\u91761\u57fa\u56e0\uff09\u7a81\u53d8\u5f15\u8d77\uff0c\u8be5\u57fa\u56e0\u4f4d\u4e8e9\u53f7\u67d3\u8272\u4f53\u3002ASS1\u57fa\u56e0\u7f16\u7801\u4e00\u79cd\u91cd\u8981\u9176\uff0c\u5e2e\u52a9\u5c06\u6c28\u8f6c\u5316\u4e3a\u65e0\u5bb3\u7684\u5c3f\u7d20\u3002\u7531\u4e8e\u8be5\u9176\u529f\u80fd\u4e0d\u8db3\uff0c\u5bfc\u81f4\u4f53\u5185\u6c28\u79ef\u805a\uff0c\u4ece\u800c\u5f71\u54cd\u8eab\u4f53\u548c\u5927\u8111\u7684\u5065\u5eb7\u3002\n<\/p>\n  <\/p>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8F%97%E5%BD%B1%E5%93%8D%E5%9F%BA%E5%9B%A0%E5%8C%BA%E5%9F%9F\"><\/span><strong>\u53d7\u5f71\u54cd\u57fa\u56e0\u533a\u57df<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><strong>ASS1<\/strong><\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"25\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/ASS1-hgtIdeo_genome_340b12_ba74f0-1024x25.png\" alt=\"\" class=\"wp-image-101298\"\/><\/figure><\/div>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>ASS1\u57fa\u56e0<\/strong>\u4f4d\u4e8e9\u53f7\u67d3\u8272\u4f53\u7684q34.11\u533a\u57df<br><\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6\"><\/span><strong>\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u75c7\u72b6\u7684\u8868\u73b0\u56e0\u4e2a\u4f53\u5dee\u5f02\u800c\u5f02\uff0c\u4e3b\u8981\u5206\u4e3a\u4ee5\u4e0b\u51e0\u7c7b\uff1a<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u65b0\u751f\u513f\u578b\uff08\u91cd\u75c7\u578b\uff09<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u5582\u517b\u56f0\u96be\uff0c\u55dc\u7761<br><\/li>\n\n\n\n<li>\u5455\u5410<br><\/li>\n\n\n\n<li>\u4f4e\u808c\u5f20\u529b\uff08\u808c\u8089\u677e\u5f1b\uff09<br><\/li>\n\n\n\n<li>\u547c\u5438\u6025\u4fc3\uff08\u4ee3\u8c22\u6027\u78b1\u4e2d\u6bd2\uff09<br><\/li>\n\n\n\n<li>\u4e25\u91cd\u65f6\u51fa\u73b0\u766b\u75eb\u3001\u660f\u8ff7\uff0c\u751a\u81f3\u6b7b\u4ea1<br><\/li>\n\n\n\n<li>\u5982\u679c\u6cbb\u7597\u5ef6\u8fdf\uff0c\u53ef\u80fd\u4f1a\u7559\u4e0b\u667a\u529b\u969c\u788d\u548c\u53d1\u80b2\u8fdf\u7f13\u3002<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8fdf\u53d1\u578b\uff08\u975e\u5178\u578b\u578b\uff09<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u5934\u75db\u3001\u5934\u6655\u3001\u6b65\u6001\u4e0d\u7a33<br><\/li>\n\n\n\n<li>\u7cbe\u795e\u6df7\u4e71\u3001\u6ce8\u610f\u529b\u51cf\u9000<br><\/li>\n\n\n\n<li>\u8bed\u8a00\u969c\u788d\u3001\u8fd0\u52a8\u5931\u8c03<br><\/li>\n\n\n\n<li>\u809d\u529f\u80fd\u969c\u788d<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u598a\u5a20\u6216\u5206\u5a29\u65f6\u53d1\u4f5c\u578b<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u5728\u598a\u5a20\u671f\u95f4\u6216\u5206\u5a29\u540e\u51fa\u73b0\u75c7\u72b6\uff0c\u5305\u62ec\u7126\u8651\u3001\u5e7b\u89c9\u3001\u9519\u4e71\u3001\u809d\u8870\u7aed\u3001\u766b\u75eb\u7b49\u3002<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u65e0\u75c7\u72b6\u578b\uff08\u65e0\u75c7\u72b6\u4e2a\u4f53\uff09<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u5373\u4f7f\u643a\u5e26ASS1\u57fa\u56e0\u7a81\u53d8\uff0c\u4e5f\u6709\u4e9b\u4eba\u4e0d\u4f1a\u8868\u73b0\u51fa\u75c7\u72b6\uff0c\u901a\u5e38\u901a\u8fc7\u65b0\u751f\u513f\u7b5b\u67e5\u6216\u5bb6\u65cf\u5386\u53f2\u53d1\u73b0\u3002<br><\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%AF%8A%E6%96%AD\"><\/span><strong>\u8bca\u65ad<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u8bca\u65ad\u4f9d\u8d56\u4e8e\u4ee5\u4e0b\u51e0\u79cd\u65b9\u6cd5\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u751f\u5316\u68c0\u67e5<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u8840\u6db2\u4e2d\u7684\u6c28\u6d53\u5ea6\u663e\u8457\u5347\u9ad8\uff08\u8d85\u8fc7150 \u03bcmol\/L\uff0c\u91cd\u75c7\u8005\u53ef\u80fd\u8d85\u8fc72000 \u03bcmol\/L\uff09<br><\/li>\n\n\n\n<li>\u8840\u6db2\u4e2d\u7684\u7cbe\u6c28\u9178\u6d53\u5ea6\u8f83\u4f4e<br><\/li>\n\n\n\n<li>\u8840\u6db2\u548c\u5c3f\u6db2\u4e2d\u7684\u7cbe\u6c28\u9178\u7425\u73c0\u9178\uff08ASS\uff09\u6c34\u5e73\u4f4e<br><\/li>\n\n\n\n<li>7-\u6c28\u57fa\u6c28\u57fa\u7532\u9178\uff087-DHC\uff09\u548c8-DHC\u5347\u9ad8<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u57fa\u56e0\u68c0\u6d4b<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u901a\u8fc7\u5bf9ASS1\u57fa\u56e0\u8fdb\u884c\u5e8f\u5217\u5206\u6790\uff0c\u53ef\u4ee5\u786e\u8ba4\u662f\u5426\u5b58\u5728\u7a81\u53d8\u3002<br><\/li>\n\n\n\n<li>\u5bf9\u4e8e\u7f55\u89c1\u7c7b\u578b\uff0c\u53ef\u4ee5\u4f7f\u7528\u591a\u57fa\u56e0\u9762\u677f\u6216\u5168\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f\u3002<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9176\u6d3b\u6027\u68c0\u6d4b<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u5982\u679c\u6b8b\u5b58\u7684\u9176\u6d3b\u6027\u4f4e\u4e8e8%\uff0c\u5219\u53ef\u80fd\u662f\u91cd\u75c7\u578b\u3002<br><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%96%97%E4%B8%8E%E7%AE%A1%E7%90%86\"><\/span><strong>\u6cbb\u7597\u4e0e\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u6025\u6027\u7ba1\u7406\uff08\u9ad8\u6c28\u8840\u75c7\uff09<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u7acb\u5373\u505c\u6b62\u86cb\u767d\u8d28\u6444\u5165\uff0c\u9632\u6b62\u6c28\u6d53\u5ea6\u5347\u9ad8<br><\/li>\n\n\n\n<li>\u9759\u8109\u6ce8\u5c04\u7cbe\u6c28\u9178\u53ca\u6c2e\u6e05\u9664\u836f\u7269\uff08\u5982\u82ef\u916a\u9178\uff09<br><\/li>\n\n\n\n<li>\u5f53\u6c28\u6d53\u5ea6\u975e\u5e38\u9ad8\u65f6\uff0c\u8fdb\u884c\u8840\u6db2\u900f\u6790\u6216\u8840\u6db2\u51c0\u5316<br><\/li>\n\n\n\n<li>\u7ba1\u7406\u8111\u6c34\u80bf\uff08\u6c34\u5206\u9650\u5236\uff0c\u63a7\u5236\u8111\u538b\uff09<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u957f\u671f\u7ba1\u7406<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li><strong>\u86cb\u767d\u8d28\u9650\u5236\u996e\u98df<\/strong>\uff1a\u6839\u636e\u5e74\u9f84\u548c\u4f53\u91cd\u8c03\u6574\u996e\u98df\u3002<br><\/li>\n\n\n\n<li><strong>\u836f\u7269\u6cbb\u7597<\/strong>\uff1a\u6c2e\u6e05\u9664\u836f\u7269\u3001\u7cbe\u6c28\u9178\u8865\u5145\u3001\u5fc5\u8981\u65f6\u4f7f\u7528\u8089\u78b1\u3002<br><\/li>\n\n\n\n<li><strong>\u53d1\u80b2\u652f\u6301<\/strong>\uff1a\u7406\u7597\u3001\u4f5c\u4e1a\u7597\u6cd5\u3001\u8bed\u8a00\u7597\u6cd5\u3002<br><\/li>\n\n\n\n<li><strong>\u611f\u67d3\u7ba1\u7406<\/strong>\uff1a\u9884\u9632\u611f\u67d3\u5e76\u53ca\u65f6\u6cbb\u7597\uff0c\u9632\u6b62\u4ee3\u8c22\u5371\u673a\u7684\u89e6\u53d1\u3002<br><\/li>\n\n\n\n<li><strong>\u809d\u79fb\u690d<\/strong>\uff1a\u5728\u4e25\u91cd\u75c5\u4f8b\u4e2d\uff0c\u809d\u79fb\u690d\u53ef\u80fd\u662f\u633d\u6551\u751f\u547d\u7684\u9009\u62e9\u3002\u7136\u800c\uff0c\u79fb\u690d\u524d\u7684\u8111\u635f\u4f24\u53ef\u80fd\u65e0\u6cd5\u6062\u590d\u3002<br><\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A2%84%E5%90%8E\"><\/span><strong>\u9884\u540e<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>SLOS\u7684\u9884\u540e\u56e0\u4e2a\u4f53\u7684\u75c7\u72b6\u4e25\u91cd\u7a0b\u5ea6\u800c\u5f02\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u91cd\u75c7\u578b<\/strong>\uff1a\u82e5\u672a\u53ca\u65f6\u6cbb\u7597\uff0c\u53ef\u80fd\u5728\u65b0\u751f\u513f\u671f\u6b7b\u4ea1\u3002<br><\/li>\n\n\n\n<li><strong>\u8f7b\u75c7\u578b<\/strong>\uff1a\u901a\u8fc7\u53ca\u65f6\u6cbb\u7597\u53ef\u4ee5\u6b63\u5e38\u751f\u6d3b\uff0c\u4f46\u53ef\u80fd\u5b58\u5728\u667a\u529b\u969c\u788d\u6216\u53d1\u80b2\u8fdf\u7f13\u3002<br><\/li>\n\n\n\n<li><strong>\u809d\u79fb\u690d\u540e<\/strong>\uff1a\u79fb\u690d\u53ef\u4ee5\u6d88\u9664\u6c28\u4e2d\u6bd2\u7684\u95ee\u9898\uff0c\u4f46\u8111\u635f\u4f24\u65e0\u6cd5\u5b8c\u5168\u6062\u590d\u3002<br><\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%97%E4%BC%A0%E5%92%A8%E8%AF%A2\"><\/span><strong>\u9057\u4f20\u54a8\u8be2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u7531\u4e8e\u8fd9\u662f\u5e38\u67d3\u8272\u4f53\u9690\u6027\u9057\u4f20\u75c5\uff0c\u7236\u6bcd\u53cc\u65b9\u5747\u4e3a\u643a\u5e26\u8005\u65f6\uff0c\u4e0b\u4e00\u4ee3\u670925%\u7684\u6982\u7387\u4f1a\u53d1\u75c5\uff0c50%\u7684\u6982\u7387\u6210\u4e3a\u643a\u5e26\u8005\uff0c25%\u7684\u6982\u7387\u662f\u5b8c\u5168\u6b63\u5e38\u7684\u3002\u9057\u4f20\u54a8\u8be2\u5bf9\u4e8e\u8ba1\u5212\u751f\u80b2\u7684\u5bb6\u5ead\u5c24\u4e3a\u91cd\u8981\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%BB%93%E8%AE%BA\"><\/span><strong>\u7ed3\u8bba<\/strong><span 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