{"id":122015,"date":"2026-01-08T14:15:56","date_gmt":"2026-01-08T05:15:56","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=122015"},"modified":"2026-03-03T16:05:29","modified_gmt":"2026-03-03T07:05:29","slug":"homocystinuria-cbs-related-cbs","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/homocystinuria-cbs-related-cbs\/","title":{"rendered":"\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\uff08CBS\u95a2\u9023\uff09"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u6982\u8981<\/strong><\/h2>\n\n\n\n<p>\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\u306f\u3001\u542b\u786b\u30a2\u30df\u30ce\u9178\u4ee3\u8b1d\u306b\u95a2\u4e0e\u3059\u308b\u9175\u7d20\u30b7\u30b9\u30bf\u30c1\u30aa\u30cb\u30f3\u03b2\u5408\u6210\u9175\u7d20\uff08CBS\uff09\u306e\u6b20\u640d\u307e\u305f\u306f\u6a5f\u80fd\u4f4e\u4e0b\u306b\u3088\u3063\u3066\u767a\u75c7\u3059\u308b\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u3067\u3059\u3002CBS\u306f\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u3092\u30b7\u30b9\u30bf\u30c1\u30aa\u30cb\u30f3\u306b\u5909\u63db\u3059\u308b\u53cd\u5fdc\u3092\u89e6\u5a92\u3057\u3066\u304a\u308a\u3001\u305d\u306e\u969c\u5bb3\u306b\u3088\u308a\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u304a\u3088\u3073\u30e1\u30c1\u30aa\u30cb\u30f3\u304c\u4f53\u5185\u306b\u84c4\u7a4d\u3057\u307e\u3059\u3002\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u306f\u8840\u7ba1\u5185\u76ae\u969c\u5bb3\u3001\u51dd\u56fa\u4ea2\u9032\u3001\u7d50\u5408\u7d44\u7e54\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u8840\u6813\u75c7\u3001\u9aa8\u683c\u7570\u5e38\u3001\u773c\u75c7\u72b6\u3001\u4e2d\u67a2\u795e\u7d4c\u969c\u5bb3\u306a\u3069\u591a\u5f69\u306a\u81e8\u5e8a\u75c7\u72b6\u3092\u5448\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u65b0\u751f\u5150\u671f\u306b\u306f\u7121\u75c7\u72b6\u3067\u3042\u308b\u3053\u3068\u3082\u591a\u304f\u3001\u4e73\u5e7c\u5150\u671f\u301c\u5b66\u7ae5\u671f\u306b\u8996\u529b\u969c\u5bb3\u3001\u767a\u9054\u9045\u6ede\u3001\u9aa8\u683c\u7570\u5e38\u306a\u3069\u3067\u767a\u898b\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u9069\u5207\u306a\u6cbb\u7642\u4ecb\u5165\u306b\u3088\u308a\u91cd\u7be4\u306a\u5408\u4f75\u75c7\u3092\u4e88\u9632\u3067\u304d\u308b\u75be\u60a3\u3067\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u75ab\u5b66<\/strong><\/h2>\n\n\n\n<p>\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\u306e\u767a\u751f\u983b\u5ea6\u306f\u5730\u57df\u5dee\u304c\u3042\u308a\u3001\u7d0420\u4e07\u301c30\u4e07\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u30a2\u30a4\u30eb\u30e9\u30f3\u30c9\u3001\u30ce\u30eb\u30a6\u30a7\u30fc\u3001\u30ab\u30bf\u30fc\u30eb\u306a\u3069\u7279\u5b9a\u5730\u57df\u3067\u983b\u5ea6\u304c\u9ad8\u3044\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002(PMC)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p>\u672c\u75be\u60a3\u306fCBS\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002CBS\u907a\u4f1d\u5b50\u306f\u30d2\u30c821\u756a\u67d3\u8272\u4f53\uff0821q22.3\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u30b7\u30b9\u30bf\u30c1\u30aa\u30cb\u30f3\u03b2\u5408\u6210\u9175\u7d20\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002\u3053\u306e\u9175\u7d20\u306f\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u3092\u89e3\u6bd2\u7684\u7d4c\u8def\u306b\u5c0e\u304f\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u304a\u308a\u3001\u305d\u306e\u6b20\u640d\u306b\u3088\u308a\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u304c\u84c4\u7a4d\u3057\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n<p>\u907a\u4f1d\u5f62\u5f0f\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3059\u3002(malacards.org)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong><strong>\u75c7\u72b6<\/strong><\/strong><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u773c\u75c7\u72b6<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6c34\u6676\u4f53\u8131\u81fc\uff08\u4e0b\u65b9\u504f\u4f4d\uff09<\/li>\n\n\n\n<li>\u8fd1\u8996<\/li>\n\n\n\n<li>\u8996\u529b\u4f4e\u4e0b<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u9aa8\u683c\u7cfb<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9577\u8eab\u30fb\u7d30\u8eab\u4f53\u578b<\/li>\n\n\n\n<li>\u810a\u67f1\u5074\u5f2f<\/li>\n\n\n\n<li>\u9aa8\u7c97\u9b06\u75c7<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u4e2d\u67a2\u795e\u7d4c\u7cfb<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a><\/li>\n\n\n\n<li>\u3066\u3093\u304b\u3093<\/li>\n\n\n\n<li>\u7cbe\u795e\u75c7\u72b6<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u8840\u7ba1\u7cfb<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9759\u8108\u8840\u6813\u75c7<\/li>\n\n\n\n<li>\u8133\u6897\u585e<\/li>\n\n\n\n<li>\u80ba\u585e\u6813\u75c7<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad<\/strong><\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u81e8\u5e8a\u6240\u898b\uff08\u6c34\u6676\u4f53\u8131\u81fc\uff0b\u8840\u6813\u75c7\uff0b\u9aa8\u683c\u7570\u5e38\uff09<\/li>\n\n\n\n<li>\u8840\u6db2\u691c\u67fb\u3067\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u9ad8\u5024<\/li>\n\n\n\n<li>\u30e1\u30c1\u30aa\u30cb\u30f3\u9ad8\u5024<\/li>\n\n\n\n<li>\u907a\u4f1d\u5b50\u8a3a\u65ad\uff08CBS\u5909\u7570\u540c\u5b9a\uff09(PMC)<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30d3\u30bf\u30df\u30f3B6\u53cd\u5fdc\u6027\u8a66\u9a13\u304a\u3088\u3073\u6295\u4e0e<\/li>\n\n\n\n<li>\u4f4e\u30e1\u30c1\u30aa\u30cb\u30f3\u98df<\/li>\n\n\n\n<li>\u8449\u9178\u3001\u30d3\u30bf\u30df\u30f3B12\u88dc\u5145<\/li>\n\n\n\n<li>\u30d9\u30bf\u30a4\u30f3\u6295\u4e0e<\/li>\n\n\n\n<li>\u6297\u8840\u6813\u7ba1\u7406<\/li>\n<\/ul>\n\n\n\n<p>\u65e9\u671f\u6cbb\u7642\u3067\u4e88\u5f8c\u306f\u5927\u304d\u304f\u6539\u5584\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<p>\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7 \u2014 \u907a\u4f1d\u5b50\u75be\u60a3\u89e3\u8aac\u30da\u30fc\u30b8\uff08\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\uff09\u3088\u308a\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<br>Mudd SH et al. Homocystinuria due to cystathionine beta-synthase deficiency. Am J Hum Genet. 1985.(Nature)<br>Homocystinuria \u2014 GeneReviews, PubMed Central.(PMC)<br>Homocystinuria \u2014 Malacards Rare Disease Database.(malacards.org)<\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-122015","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122015","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122015\/revisions"}],"predecessor-version":[{"id":125277,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122015\/revisions\/125277"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122015"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}