{"id":112068,"date":"2025-06-17T11:09:06","date_gmt":"2025-06-17T02:09:06","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/homocystinuria-cbs-deficiency-overview\/"},"modified":"2025-08-22T17:21:52","modified_gmt":"2025-08-22T08:21:52","slug":"homocystinuria-cbs-deficiency-overview","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/homocystinuria-cbs-deficiency-overview\/?lang=zh-hans","title":{"rendered":"\u534a\u80f1\u6c28\u9178\u5c3f\u75c71\u578b\uff08CBS\u7f3a\u4e4f\u75c7\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 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/homocystinuria-cbs-deficiency-overview\/?lang=zh-hans\/#%E8%AF%8A%E6%96%AD\" >\u8bca\u65ad<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/homocystinuria-cbs-deficiency-overview\/?lang=zh-hans\/#%E6%B2%BB%E7%96%97%E4%B8%8E%E7%AE%A1%E7%90%86\" >\u6cbb\u7597\u4e0e\u7ba1\u7406<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/homocystinuria-cbs-deficiency-overview\/?lang=zh-hans\/#%E9%A2%84%E5%90%8E\" >\u9884\u540e<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/homocystinuria-cbs-deficiency-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-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/homocystinuria-cbs-deficiency-overview\/?lang=zh-hans\/#%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE%EF%BC%9A\" >\u53c2\u8003\u6587\u732e\uff1a<\/a><\/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   \u534a\u80f1\u6c28\u9178\u5c3f\u75c71\u578b\uff08CBS\u7f3a\u4e4f\u75c7\uff09\u662f\u4e00\u79cd\u7f55\u89c1\u7684\u9057\u4f20\u6027\u4ee3\u8c22\u75be\u75c5\uff0c\u7531\u4e8eCBS\u57fa\u56e0\uff08\u534a\u80f1\u6c28\u9178\u03b2\u5408\u6210\u9176\uff09\u7684\u7a81\u53d8\u5f15\u8d77\u3002\u8fd9\u4e2a\u9176\u5728\u786b\u6c28\u57fa\u9178\u4ee3\u8c22\u8fc7\u7a0b\u4e2d\u8d77\u7740\u81f3\u5173\u91cd\u8981\u7684\u4f5c\u7528\uff0c\u8d1f\u8d23\u5c06\u534a\u80f1\u6c28\u9178\u8f6c\u5316\u4e3a\u5176\u4ed6\u7269\u8d28\u3002\u5f53CBS\u9176\u7f3a\u4e4f\u65f6\uff0c\u534a\u80f1\u6c28\u9178\u5728\u4f53\u5185\u79ef\u7d2f\uff0c\u5bfc\u81f4\u591a\u79cd\u5e76\u53d1\u75c7\uff0c\u5f71\u54cd\u773c\u775b\u3001\u9aa8\u9abc\u3001\u8840\u7ba1\u548c\u795e\u7ecf\u7cfb\u7edf\u3002\n\u6b64\u75c5\u5c5e\u4e8e\u5e38\u67d3\u8272\u4f53\u9690\u6027\u9057\u4f20\uff08autosomal recessive inheritance\uff09\uff0c\u610f\u5473\u7740\u5982\u679c\u7236\u6bcd\u53cc\u65b9\u90fd\u643a\u5e26\u8be5\u7a81\u53d8\u7684\u57fa\u56e0\uff0c\u5b50\u5973\u5c31\u53ef\u80fd\u60a3\u75c5\u3002\n\n  <\/p>\n<\/div>\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>CBS<\/strong><\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"26\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/CBS-hgtIdeo_genome_asia_3f7ee_fbb500-1024x26.png\" alt=\"CBS\" class=\"wp-image-101419\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h3 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><\/h3>\n\n\n\n<p>\u534a\u80f1\u6c28\u9178\u5c3f\u75c7\u7684\u75c7\u72b6\u56e0\u4eba\u800c\u5f02\uff0c\u4e3b\u8981\u8868\u73b0\u5982\u4e0b\uff1a<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u773c\u775b\u95ee\u9898<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li><strong>\u6c34\u6676\u4f53\u8131\u4f4d<\/strong>\uff1a\u773c\u775b\u7684\u6676\u72b6\u4f53\u79fb\u4f4d\uff0c\u901a\u5e38\u53d1\u751f\u57281-8\u5c81\u4e4b\u95f4\u3002<br><\/li>\n\n\n\n<li><strong>\u4e25\u91cd\u8fd1\u89c6<\/strong>\uff1a\u89c6\u529b\u4e25\u91cd\u4e0b\u964d\u3002<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9aa8\u9abc\u95ee\u9898<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li><strong>\u9a6c\u51e1\u578b\u4f53\u578b<\/strong>\uff1a\u8eab\u9ad8\u8f83\u9ad8\uff0c\u56db\u80a2\u8f83\u957f\u3002<br><\/li>\n\n\n\n<li><strong>\u810a\u67f1\u4fa7\u5f2f<\/strong>\uff1a\u810a\u690e\u5f2f\u66f2\u3002<br><\/li>\n\n\n\n<li><strong>\u9aa8\u8d28\u758f\u677e<\/strong>\uff1a\u9aa8\u9abc\u53d8\u8106\uff0c\u5bb9\u6613\u9aa8\u6298\u3002<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8840\u7ba1\u95ee\u9898<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li><strong>\u8840\u6813\u6813\u585e<\/strong>\uff1a\u9759\u8109\u3001\u80ba\u90e8\u6216\u5927\u8111\u8840\u7ba1\u5835\u585e\uff0c\u5c24\u5176\u5728\u6000\u5b55\u671f\u95f4\u98ce\u9669\u8f83\u9ad8\u3002<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u795e\u7ecf\u548c\u7cbe\u795e\u95ee\u9898<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li><strong>\u667a\u529b\u969c\u788d<\/strong>\u548c<strong>\u53d1\u80b2\u8fdf\u7f13<\/strong>\u3002<br><\/li>\n\n\n\n<li><strong>\u766b\u75eb\u53d1\u4f5c<\/strong>\uff0c\u6291\u90c1\u75c7\u548c\u5f3a\u8feb\u75c7\u7b49\u7cbe\u795e\u75be\u75c5\u3002<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5176\u4ed6\u75c7\u72b6<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u76ae\u80a4\u548c\u5934\u53d1\u8272\u7d20\u7f3a\u4e4f\u3002<br><\/li>\n\n\n\n<li>\u9762\u90e8\u6f6e\u7ea2\u3002<br><\/li>\n\n\n\n<li><strong>\u80f0\u817a\u708e<\/strong>\u548c<strong>\u809d\u810f\u56ca\u80bf<\/strong>\uff08\u8f83\u5c11\u89c1\uff09\u3002<br><\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<h3 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><\/h3>\n\n\n\n<p>\u534a\u80f1\u6c28\u9178\u5c3f\u75c7\u7684\u8bca\u65ad\u6d89\u53ca\u4ee5\u4e0b\u51e0\u9879\u68c0\u67e5\uff1a<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u751f\u5316\u68c0\u67e5<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u8840\u6d46\u4e2d\u7684<strong>\u534a\u80f1\u6c28\u9178<\/strong>\u6d53\u5ea6\u660e\u663e\u5347\u9ad8\uff08\u5927\u4e8e100 \u03bcmol\/L\uff09\u3002<br><\/li>\n\n\n\n<li>\u8840\u6db2\u4e2d\u7684<strong>\u7f8e\u514b\u6c28\u9178<\/strong>\u6c34\u5e73\u5347\u9ad8\u3002<br><\/li>\n\n\n\n<li><strong>\u5c3f\u4e2d\u534a\u80f1\u6c28\u9178<\/strong>\u589e\u591a\u3002<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<strong>CBS\u57fa\u56e0\u6d4b\u5e8f<\/strong>\u68c0\u67e5\u57fa\u56e0\u7a81\u53d8\u3002\u8fd9\u9879\u68c0\u6d4b\u80fd\u53d1\u73b095%\u81f398%\u7684\u75c5\u4f8b\u3002<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u65b0\u751f\u513f\u7b5b\u67e5<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u901a\u8fc7\u4ece\u8db3\u8ddf\u53d6\u8840\uff0c\u6d4b\u5b9a<strong>\u7f8e\u514b\u6c28\u9178<\/strong>\u6c34\u5e73\u3002\u5982\u679c\u5347\u9ad8\uff0c\u53ef\u4ee5\u8fdb\u884c\u8fdb\u4e00\u6b65\u7684\u534a\u80f1\u6c28\u9178\u68c0\u6d4b\u3002<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7ef4\u751f\u7d20B6\u8010\u53d7\u6027\u8bd5\u9a8c<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u5982\u679c\u5bf9**\u7ef4\u751f\u7d20B6\uff08\u5421\u54c6\u9187\uff09**\u6709\u53cd\u5e94\uff0c\u5219\u88ab\u5f52\u7c7b\u4e3a\u201c\u53cd\u5e94\u578b\u201d\u3002<br><\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<h3 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><\/h3>\n\n\n\n<p>\u867d\u7136\u534a\u80f1\u6c28\u9178\u5c3f\u75c7\u6ca1\u6709\u6cbb\u6108\u65b9\u6cd5\uff0c\u4f46\u901a\u8fc7\u6cbb\u7597\u53ef\u4ee5\u5e2e\u52a9\u7ba1\u7406\u75c7\u72b6\u5e76\u9632\u6b62\u5e76\u53d1\u75c7\u3002\u4e3b\u8981\u7ba1\u7406\u7b56\u7565\u5305\u62ec\uff1a<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u7ef4\u751f\u7d20B6\uff08\u5421\u54c6\u9187\uff09\u8865\u5145<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u5bf9\u4e8e\u201c\u53cd\u5e94\u578b\u201d\u75c5\u4f8b\uff0c\u6bcf\u65e5\u8865\u5145200\u81f31000\u6beb\u514b\u3002<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7f8e\u514b\u6c28\u9178\u9650\u5236\u996e\u98df<\/strong>\uff1a<br>\n<ul 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class=\"wp-block-list\">\n<li>\u56e0\u4e3a\u6000\u5b55\u671f\u95f4\u8840\u6813\u98ce\u9669\u8f83\u9ad8\uff0c\u53ef\u4ee5\u4f7f\u7528\u4f4e\u5206\u5b50\u809d\u7d20\u6216\u963f\u53f8\u5339\u6797\u8fdb\u884c\u7ba1\u7406\u3002<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u809d\u79fb\u690d<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u5bf9\u4e8e\u91cd\u75c7\u75c5\u4f8b\uff0c\u809d\u79fb\u690d\u53ef\u80fd\u662f\u5fc5\u8981\u7684\u3002<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u652f\u6301\u6cbb\u7597<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u5b9a\u671f\u76d1\u6d4b\u3001\u7269\u7406\u6cbb\u7597\u3001\u8bed\u8a00\u6cbb\u7597\u53ca\u5fc3\u7406\u5065\u5eb7\u652f\u6301\u3002<br><\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A2%84%E5%90%8E\"><\/span><strong>\u9884\u540e<\/strong><span 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class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE%EF%BC%9A\"><\/span><strong>\u53c2\u8003\u6587\u732e\uff1a<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Sacharow SJ, Picker JD, Levy HL. <strong>Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency<\/strong>. 2004. GeneReviews.<br><\/li>\n\n\n\n<li>Majtan, Tomas, et al. <strong>Recent Therapeutic Approaches to Cystathionine Beta\u2010synthase\u2010deficient Homocystinuria<\/strong>. British Journal of Pharmacology. 2023.<br><\/li>\n<\/ol>\n\n\n\n<p>Liu, Xin, et al. <strong>Identification and Functional Analysis of Cystathionine Beta-Synthase Gene Mutations<\/strong>. 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