{"id":101296,"date":"2025-06-13T14:59:11","date_gmt":"2025-06-13T05:59:11","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=101296"},"modified":"2025-08-26T12:30:36","modified_gmt":"2025-08-26T03:30:36","slug":"citrullinemia-type-1-overview","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/citrullinemia-type-1-overview\/","title":{"rendered":"\u30b7\u30c8\u30eb\u30ea\u30f3\u8840\u75c71\u578b\uff08\u30a2\u30eb\u30ae\u30cb\u30ce\u30b3\u30cf\u30af\u9178\u5408\u6210\u9175\u7d20\u6b20\u640d\u75c7\uff09\u3010ASS1\u3011"},"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_82_2 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\/#%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\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E9%A0%98%E5%9F%9F_Implicated_Genomic_Region\" >\u907a\u4f1d\u5b50\u9818\u57df | Implicated Genomic Region<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/citrullinemia-type-1-overview\/#%E7%96%BE%E6%82%A3%E5%90%8D_Disorder\" >\u75be\u60a3\u540d | Disorder<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/citrullinemia-type-1-overview\/#%E6%A6%82%E8%A6%81_Overview\" >\u6982\u8981 | Overview<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/citrullinemia-type-1-overview\/#%E7%96%AB%E5%AD%A6_Epidemiology\" >\u75ab\u5b66 | Epidemiology<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/citrullinemia-type-1-overview\/#%E7%97%85%E5%9B%A0_Etiology\" >\u75c5\u56e0 | Etiology<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/citrullinemia-type-1-overview\/#%E7%97%87%E7%8A%B6_Symptoms\" >\u75c7\u72b6 | Symptoms<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/citrullinemia-type-1-overview\/#1_%E6%96%B0%E7%94%9F%E5%85%90%E5%9E%8B%EF%BC%88%E5%85%B8%E5%9E%8B%E7%9A%84%E3%81%AA%E9%87%8D%E7%97%87%E5%9E%8B%EF%BC%89\" >1. \u65b0\u751f\u5150\u578b\uff08\u5178\u578b\u7684\u306a\u91cd\u75c7\u578b\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/citrullinemia-type-1-overview\/#2_%E9%81%85%E7%99%BA%E5%9E%8B%EF%BC%88%E9%9D%9E%E5%85%B8%E5%9E%8B%E5%9E%8B%EF%BC%89\" >2. \u9045\u767a\u578b\uff08\u975e\u5178\u578b\u578b\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/citrullinemia-type-1-overview\/#3_%E5%A6%8A%E5%A8%A0%E3%83%BB%E5%87%BA%E7%94%A3%E6%99%82%E7%99%BA%E7%97%87%E5%9E%8B%EF%BC%88%E5%91%A8%E7%94%A3%E6%9C%9F%E5%9E%8B%EF%BC%89\" >3. \u598a\u5a20\u30fb\u51fa\u7523\u6642\u767a\u75c7\u578b\uff08\u5468\u7523\u671f\u578b\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/citrullinemia-type-1-overview\/#4_%E7%84%A1%E7%97%87%E5%80%99%E5%9E%8B%EF%BC%88%E7%97%87%E7%8A%B6%E3%81%8C%E5%87%BA%E3%81%AA%E3%81%84%E3%82%BF%E3%82%A4%E3%83%97%EF%BC%89\" >4. \u7121\u75c7\u5019\u578b\uff08\u75c7\u72b6\u304c\u51fa\u306a\u3044\u30bf\u30a4\u30d7\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/citrullinemia-type-1-overview\/#%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD_Testing_Diagnosis\" >\u691c\u67fb\u30fb\u8a3a\u65ad | Testing &amp; Diagnosis<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/citrullinemia-type-1-overview\/#%E8%A1%80%E6%B6%B2%E3%83%BB%E5%B0%BF%E3%81%AE%E6%A4%9C%E6%9F%BB\" >\u8840\u6db2\u30fb\u5c3f\u306e\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/citrullinemia-type-1-overview\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB\" >\u907a\u4f1d\u5b50\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/citrullinemia-type-1-overview\/#%E9%85%B5%E7%B4%A0%E6%B4%BB%E6%80%A7%E3%81%AE%E6%A4%9C%E6%9F%BB%EF%BC%88%E3%81%BE%E3%82%8C%EF%BC%89\" >\u9175\u7d20\u6d3b\u6027\u306e\u691c\u67fb\uff08\u307e\u308c\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/citrullinemia-type-1-overview\/#%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%A8%E7%AE%A1%E7%90%86_Treatment_Management\" >\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/citrullinemia-type-1-overview\/#%E6%80%A5%E6%80%A7%E6%9C%9F%E3%81%AE%E5%AF%BE%E5%BF%9C%EF%BC%88%E9%AB%98%E3%82%A2%E3%83%B3%E3%83%A2%E3%83%8B%E3%82%A2%E8%A1%80%E7%97%87%EF%BC%89\" >\u6025\u6027\u671f\u306e\u5bfe\u5fdc\uff08\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/citrullinemia-type-1-overview\/#%E9%95%B7%E6%9C%9F%E7%AE%A1%E7%90%86\" >\u9577\u671f\u7ba1\u7406<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/citrullinemia-type-1-overview\/#%E8%82%9D%E7%A7%BB%E6%A4%8D\" >\u809d\u79fb\u690d<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/citrullinemia-type-1-overview\/#%E4%BA%88%E5%BE%8C_Prognosis\" >\u4e88\u5f8c | Prognosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/citrullinemia-type-1-overview\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\" >\u5f15\u7528\u6587\u732e\uff5cReferences<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/citrullinemia-type-1-overview\/#%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\" >\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/a><\/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\u3053\u306e\u30da\u30fc\u30b8\u3067\u306f\u3001\u300c\u30b7\u30c8\u30eb\u30ea\u30f3\u8840\u75c71\u578b\uff08Citrullinemia Type I\uff09\u300d\u3068\u3044\u3046\u3001\u4f53\u306e\u4e2d\u3067\u305f\u3093\u3071\u304f\u8cea\u3092\u5206\u89e3\u3057\u305f\u3068\u304d\u306b\u51fa\u308b\u6709\u5bb3\u306a\u30a2\u30f3\u30e2\u30cb\u30a2\u3092\u3046\u307e\u304f\u51e6\u7406\u3067\u304d\u306a\u304f\u306a\u308b\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u306b\u3064\u3044\u3066\u3001\u3084\u3055\u3057\u304f\u304f\u308f\u3057\u304f\u3054\u8aac\u660e\u3057\u307e\u3059\u3002<br>\n\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\uff08ASS1\uff09\u306e\u50cd\u304d\u3084\u3001\u75c7\u72b6\u306e\u3042\u3089\u308f\u308c\u65b9\uff08\u8d64\u3061\u3083\u3093\u306e\u9803\u304b\u3089\u3001\u5927\u4eba\u306b\u306a\u3063\u3066\u304b\u3089\u767a\u75c7\u3059\u308b\u5834\u5408\u307e\u3067\uff09\u3001\u691c\u67fb\u65b9\u6cd5\u3001\u6cbb\u7642\u6cd5\u3001\u751f\u6d3b\u306e\u5de5\u592b\u306b\u3064\u3044\u3066\u3001\u60a3\u8005\u3055\u3093\u3084\u3054\u5bb6\u65cf\u306e\u8996\u70b9\u3067\u4e01\u5be7\u306b\u307e\u3068\u3081\u3066\u3044\u307e\u3059\u3002<br>\n\u300c\u5b50\u3069\u3082\u304c\u3053\u306e\u75c5\u6c17\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3051\u308c\u3069\u3001\u3069\u3046\u5411\u304d\u5408\u3048\u3070\u3088\u3044\u304b\u4e0d\u5b89\u300d\u300c\u533b\u5e2b\u306e\u8aac\u660e\u3092\u3082\u3063\u3068\u3084\u3055\u3057\u3044\u8a00\u8449\u3067\u77e5\u308a\u305f\u3044\u300d\u3068\u601d\u3063\u3066\u3044\u308b\u65b9\u306b\u3001\u305c\u3072\u8aad\u3093\u3067\u3044\u305f\u3060\u304d\u305f\u3044\u5185\u5bb9\u3067\u3059\u3002\n<\/p>\n  <\/p>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E9%A0%98%E5%9F%9F_Implicated_Genomic_Region\"><\/span>\u907a\u4f1d\u5b50\u9818\u57df | Implicated Genomic Region<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<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30b7\u30c8\u30eb\u30ea\u30f3\u8840\u75c71\u578b\u306f\u3001ASS1\u907a\u4f1d\u5b50\uff08Argininosuccinate Synthase 1\uff09\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u8d77\u3053\u308a\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f9\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff089q34.11\uff09\u3068\u3044\u3046\u5834\u6240\u306b\u3042\u308a\u3001\u30a2\u30eb\u30ae\u30cb\u30ce\u30b3\u30cf\u30af\u9178\u5408\u6210\u9175\u7d201\uff08Argininosuccinate Synthase 1\u3001\u7565\u79f0\uff1aASS1\uff09\u3068\u3044\u3046\u91cd\u8981\u306a\u305f\u3093\u3071\u304f\u8cea\u3092\u4f5c\u308b\u50cd\u304d\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9175\u7d20\u306f\u3001\u4f53\u306e\u4e2d\u3067\u4e0d\u8981\u306a\u7a92\u7d20\uff08\u305f\u3093\u3071\u304f\u8cea\u3092\u5206\u89e3\u3057\u305f\u5f8c\u306b\u3067\u304d\u308b\u6709\u5bb3\u306a\u7269\u8cea\uff09\u3092\u7121\u5bb3\u306a\u5c3f\u7d20\uff08\u3086\u3046\u305d\uff09\u306b\u5909\u3048\u308b\u300c\u5c3f\u7d20\u56de\u8def\uff08Urea Cycle\uff09\u300d\u3068\u3044\u3046\u4ed5\u7d44\u307f\u306e\u4e2d\u3067\u50cd\u3044\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u3001\u300c\u30b7\u30c8\u30eb\u30ea\u30f3\uff08Citrulline\uff09\u300d\u3068\u300c\u30a2\u30b9\u30d1\u30e9\u30ae\u30f3\u9178\uff08Aspartate\uff09\u300d\u3068\u3044\u3046\u30a2\u30df\u30ce\u9178\u3092\u6750\u6599\u306b\u3057\u3066\u3001\u300c\u30a2\u30eb\u30ae\u30cb\u30ce\u30b3\u30cf\u30af\u9178\uff08Argininosuccinate\uff09\u300d\u3092\u4f5c\u308a\u51fa\u3059\u53cd\u5fdc\u3092\u52a9\u3051\u308b\u5f79\u5272\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E6%82%A3%E5%90%8D_Disorder\"><\/span>\u75be\u60a3\u540d | Disorder<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306e\u6b63\u5f0f\u540d\u79f0\u306f\u30b7\u30c8\u30eb\u30ea\u30f3\u8840\u75c71\u578b\uff08Citrullinemia, Type I\uff09\u3067\u3059\u3002\u82f1\u8a9e\u3067\u7565\u3057\u3066\u300cCTLN1\u300d\u3068\u3082\u547c\u3070\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5206\u985e\u3068\u3057\u3066\u306f\u3001\u300c\u5c3f\u7d20\u56de\u8def\u7570\u5e38\u75c7\uff08Urea Cycle Disorder\u3001UCD\uff09\u300d\u3068\u3044\u3046\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\uff08\u751f\u307e\u308c\u3064\u304d\u4f53\u306e\u4e2d\u306e\u5316\u5b66\u53cd\u5fdc\u306b\u95a2\u308f\u308b\u9175\u7d20\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u3044\u75c5\u6c17\uff09\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81_Overview\"><\/span>\u6982\u8981 | Overview<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30b7\u30c8\u30eb\u30ea\u30f3\u8840\u75c71\u578b\u306f\u3001\u3054\u304f\u307e\u308c\u306b\u898b\u3089\u308c\u308b\u907a\u4f1d\u6027\uff08\u5bb6\u65cf\u306b\u907a\u4f1d\u3059\u308b\uff09\u306e\u4ee3\u8b1d\u6027\u75be\u60a3\u3067\u3001\u4e21\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u3060ASS1\u907a\u4f1d\u5b50\u306e\u7570\u5e38\uff08\u5909\u7570\uff09\u306b\u3088\u3063\u3066\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u3067\u306f\u3001\u300c\u5c3f\u7d20\u56de\u8def\u300d\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u3044\u305f\u3081\u3001\u305f\u3093\u3071\u304f\u8cea\u3092\u5206\u89e3\u3057\u305f\u5f8c\u306b\u3067\u304d\u308b\u30a2\u30f3\u30e2\u30cb\u30a2\uff08Ammonia\uff09\u3068\u3044\u3046\u6bd2\u6027\u306e\u3042\u308b\u7269\u8cea\u304c\u4f53\u306b\u305f\u307e\u308a\u3084\u3059\u304f\u306a\u308a\u307e\u3059\uff08\u3053\u308c\u3092\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\uff08Hyperammonemia\uff09\u3068\u3044\u3044\u307e\u3059\uff09\u3002\u305d\u306e\u7d50\u679c\u3001\u4f53\u3084\u8133\u306b\u3055\u307e\u3056\u307e\u306a\u5f71\u97ff\u304c\u51fa\u3066\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u306e\u51fa\u65b9\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u751f\u307e\u308c\u3066\u3059\u3050\u306b\u75c7\u72b6\u304c\u51fa\u308b\u91cd\u75c7\u578b\u304b\u3089\u3001\u5927\u4eba\u306b\u306a\u3063\u3066\u304b\u3089\u6c17\u3065\u304b\u308c\u308b\u8efd\u3044\u578b\u3001\u3055\u3089\u306b\u306f\u307e\u3063\u305f\u304f\u75c7\u72b6\u306e\u306a\u3044\u4eba\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u306a\u304a\u3001\u30b7\u30c8\u30eb\u30ea\u30f3\u8840\u75c72\u578b\uff08Citrullinemia Type II\uff09\u3068\u3044\u3046\u5225\u306e\u75c5\u6c17\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u306fSLC25A13\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u308b\u5168\u304f\u5225\u306e\u75be\u60a3\u3067\u3059\uff08\u65e5\u672c\u3067\u306f\u300c\u30b7\u30c8\u30ea\u30f3\u6b20\u640d\u75c7\u300d\u3068\u3082\u547c\u3070\u308c\u3066\u3044\u307e\u3059\uff09\u3002\u540d\u524d\u306f\u4f3c\u3066\u3044\u307e\u3059\u304c\u3001\u539f\u56e0\u30fb\u6cbb\u7642\u6cd5\u30fb\u4f53\u3078\u306e\u5f71\u97ff\u306f\u7570\u306a\u308a\u307e\u3059\u306e\u3067\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%AB%E5%AD%A6_Epidemiology\"><\/span>\u75ab\u5b66 | Epidemiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30b7\u30c8\u30eb\u30ea\u30f3\u8840\u75c71\u578b\u306f\u975e\u5e38\u306b\u307e\u308c\u306a\u75c5\u6c17\u3067\u3059\u3002\u4e16\u754c\u5168\u4f53\u3067\u306f\u3001\u304a\u3088\u305d4\u4e07\u301c25\u4e07\u4eba\u306b1\u4eba\u306e\u5272\u5408\u3067\u767a\u75c7\u3059\u308b\u3068\u8a00\u308f\u308c\u3066\u3044\u307e\u3059\u3002\u5730\u57df\u306b\u3088\u3063\u3066\u983b\u5ea6\u304c\u7570\u306a\u308a\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u5831\u544a\u304c\u3042\u308a\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u97d3\u56fd\uff1a\u7d044\u4e074,300\u4eba\u306b1\u4eba<\/li>\n\n\n\n<li>\u30aa\u30fc\u30b9\u30c8\u30ea\u30a2\uff1a\u7d047\u4e077,800\u4eba\u306b1\u4eba<\/li>\n\n\n\n<li>\u30a2\u30e1\u30ea\u30ab\u30fb\u30cb\u30e5\u30fc\u30a4\u30f3\u30b0\u30e9\u30f3\u30c9\u5730\u65b9\uff1a\u7d0420\u4e07\u4eba\u306b1\u4eba<\/li>\n\n\n\n<li>\u65e5\u672c\u3067\u306f\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306b\u3088\u308a\u3001\u65e9\u671f\u306b\u767a\u898b\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n    <a href=\"\/nipt\/cln6-neuronal-ceroid-lipofuscinosis-symptoms-diagnosis-treatment\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">CLN6\u578b\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\u3010CLN6\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">CLN6\u578b\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\u306f\u3001\u5c0f\u5150\u306b\u591a\u3044\u9032\u884c\u6027\u306e\u795e\u7d4c\u75be\u60a3\u3067\u3059\u3002\u539f\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u3001\u6cbb\u7642\u306e\u7814\u7a76\u306b\u3064\u3044\u3066\u3001\u3084\u3055\u3057\u3044\u8a00\u8449\u3067\u3054\u8aac\u660e\u3057\u307e\u3059\uff5c\u30d2...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0_Etiology\"><\/span>\u75c5\u56e0 | Etiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306e\u539f\u56e0\u306f\u3001\u4f53\u306e\u4e2d\u306eASS1\u9175\u7d20\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u304f\u306a\u308b\u3053\u3068\u3067\u3059\u3002\u3053\u306e\u9175\u7d20\u306f\u3001\u300c\u30b7\u30c8\u30eb\u30ea\u30f3\u300d\u3068\u300c\u30a2\u30b9\u30d1\u30e9\u30ae\u30f3\u9178\u300d\u3068\u3044\u30462\u3064\u306e\u30a2\u30df\u30ce\u9178\u3092\u4f7f\u3063\u3066\u3001\u300c\u30a2\u30eb\u30ae\u30cb\u30ce\u30b3\u30cf\u30af\u9178\u300d\u3092\u4f5c\u308b\u53cd\u5fdc\u3092\u52a9\u3051\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u53cd\u5fdc\u306f\u3001\u300c\u30a2\u30f3\u30e2\u30cb\u30a2\u300d\u3092\u300c\u5c3f\u7d20\u300d\u306b\u5909\u3048\u308b\u5c3f\u7d20\u56de\u8def\u306e\u4e2d\u3067\u3068\u3066\u3082\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>ASS1\u306e\u50cd\u304d\u304c\u5f31\u304f\u306a\u308b\u3068\u3001\u3053\u306e\u56de\u8def\u304c\u9014\u4e2d\u3067\u6b62\u307e\u3063\u3066\u3057\u307e\u3044\u3001\u4f53\u306e\u4e2d\u306b\u30a2\u30f3\u30e2\u30cb\u30a2\u3084\u30b7\u30c8\u30eb\u30ea\u30f3\u304c\u305f\u307e\u308a\u3001\u8133\u3084\u4f53\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6_Symptoms\"><\/span>\u75c7\u72b6 | Symptoms<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u75c7\u72b6\u306e\u73fe\u308c\u65b9\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u30bf\u30a4\u30d7\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E6%96%B0%E7%94%9F%E5%85%90%E5%9E%8B%EF%BC%88%E5%85%B8%E5%9E%8B%E7%9A%84%E3%81%AA%E9%87%8D%E7%97%87%E5%9E%8B%EF%BC%89\"><\/span>1. \u65b0\u751f\u5150\u578b\uff08\u5178\u578b\u7684\u306a\u91cd\u75c7\u578b\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u75c7\u6642\u671f\uff1a\u751f\u5f8c1\u301c4\u65e5\u4ee5\u5185\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u521d\u671f\u75c7\u72b6\n<ul class=\"wp-block-list\">\n<li>\u6bcd\u4e73\u3084\u30df\u30eb\u30af\u3092\u3046\u307e\u304f\u98f2\u3081\u306a\u3044<\/li>\n\n\n\n<li>\u3050\u3063\u305f\u308a\u3057\u3066\u5143\u6c17\u304c\u306a\u3044\uff08\u50be\u7720\u30fb\u55dc\u7720\uff09<\/li>\n\n\n\n<li>\u5410\u304f<\/li>\n\n\n\n<li>\u7b4b\u8089\u304c\u3086\u308b\u304f\u306a\u308b\uff08\u4f4e\u7dca\u5f35\uff09<\/li>\n\n\n\n<li>\u547c\u5438\u304c\u65e9\u304f\u306a\u308b\uff08\u4ee3\u8b1d\u6027\u30a2\u30eb\u30ab\u30ed\u30fc\u30b7\u30b9\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u9032\u884c\u3059\u308b\u3068\n<ul class=\"wp-block-list\">\n<li>\u3051\u3044\u308c\u3093<\/li>\n\n\n\n<li>\u610f\u8b58\u969c\u5bb3\uff08\u660f\u7761\uff09<\/li>\n\n\n\n<li>\u982d\u84cb\u5185\u5727\u306e\u4e0a\u6607\u306b\u3088\u308b\u8133\u969c\u5bb3<\/li>\n\n\n\n<li>\u6b7b\u4ea1\u3059\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u5f8c\u907a\u75c7\uff1a\u6cbb\u7642\u304c\u9045\u308c\u308b\u3068\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u767a\u9054\u9045\u5ef6\u304c\u6b8b\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E9%81%85%E7%99%BA%E5%9E%8B%EF%BC%88%E9%9D%9E%E5%85%B8%E5%9E%8B%E5%9E%8B%EF%BC%89\"><\/span>2. \u9045\u767a\u578b\uff08\u975e\u5178\u578b\u578b\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u75c7\u6642\u671f\uff1a\u4e73\u5150\u671f\u301c\u6210\u4eba\u671f\u307e\u3067\u3055\u307e\u3056\u307e<\/li>\n\n\n\n<li>\u75c7\u72b6\n<ul class=\"wp-block-list\">\n<li>\u982d\u75db\u3001\u3081\u307e\u3044\u3001\u3075\u3089\u3064\u304d<\/li>\n\n\n\n<li>\u7cbe\u795e\u7684\u306a\u6df7\u4e71\u3084\u6ce8\u610f\u529b\u4f4e\u4e0b<\/li>\n\n\n\n<li>\u767a\u8a9e\u969c\u5bb3\u3084\u3075\u3089\u3064\u304d\u6b69\u884c\uff08\u904b\u52d5\u5931\u8abf\uff09<\/li>\n\n\n\n<li>\u809d\u6a5f\u80fd\u969c\u5bb3<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E5%A6%8A%E5%A8%A0%E3%83%BB%E5%87%BA%E7%94%A3%E6%99%82%E7%99%BA%E7%97%87%E5%9E%8B%EF%BC%88%E5%91%A8%E7%94%A3%E6%9C%9F%E5%9E%8B%EF%BC%89\"><\/span>3. \u598a\u5a20\u30fb\u51fa\u7523\u6642\u767a\u75c7\u578b\uff08\u5468\u7523\u671f\u578b\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u598a\u5a20\u4e2d\u307e\u305f\u306f\u51fa\u7523\u76f4\u5f8c\u306b\u3001\u521d\u3081\u3066\u767a\u75c7\u3059\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u75c7\u72b6\uff1a\u7cbe\u795e\u75c7\u72b6\uff08\u4e0d\u5b89\u611f\u30fb\u5e7b\u899a\u30fb\u932f\u4e71\uff09\u3001\u809d\u4e0d\u5168\u3001\u3051\u3044\u308c\u3093\u306a\u3069<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E7%84%A1%E7%97%87%E5%80%99%E5%9E%8B%EF%BC%88%E7%97%87%E7%8A%B6%E3%81%8C%E5%87%BA%E3%81%AA%E3%81%84%E3%82%BF%E3%82%A4%E3%83%97%EF%BC%89\"><\/span>4. \u7121\u75c7\u5019\u578b\uff08\u75c7\u72b6\u304c\u51fa\u306a\u3044\u30bf\u30a4\u30d7\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u751f\u307e\u308c\u3064\u304dASS1\u306e\u907a\u4f1d\u5b50\u306b\u7570\u5e38\u304c\u3042\u3063\u3066\u3082\u3001\u5341\u5206\u306a\u9175\u7d20\u6d3b\u6027\u304c\u3042\u308b\u305f\u3081\u306b\u75c7\u72b6\u304c\u51fa\u306a\u3044\u4eba\u3082\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u65b9\u306f\u3001\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3084\u5bb6\u65cf\u6b74\u306a\u3069\u304b\u3089\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD_Testing_Diagnosis\"><\/span>\u691c\u67fb\u30fb\u8a3a\u65ad | Testing &amp; Diagnosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A1%80%E6%B6%B2%E3%83%BB%E5%B0%BF%E3%81%AE%E6%A4%9C%E6%9F%BB\"><\/span>\u8840\u6db2\u30fb\u5c3f\u306e\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8840\u4e2d\u30a2\u30f3\u30e2\u30cb\u30a2\uff1a\u901a\u5e38\u3088\u308a\u5927\u5e45\u306b\u9ad8\u304f\u306a\u308a\u307e\u3059\uff08150 \u03bcmol\/L\u4ee5\u4e0a\u3001\u91cd\u75c7\u4f8b\u3067\u306f2000 \u03bcmol\/L\u3092\u8d85\u3048\u308b\u3053\u3068\u3082\uff09<\/li>\n\n\n\n<li>\u30b7\u30c8\u30eb\u30ea\u30f3\uff1a\u975e\u5e38\u306b\u9ad8\u5024\uff08500 \u03bcmol\/L\u4ee5\u4e0a\uff09<\/li>\n\n\n\n<li>\u30a2\u30eb\u30ae\u30cb\u30ce\u30b3\u30cf\u30af\u9178\uff1a\u4f4e\u5024\u307e\u305f\u306f\u691c\u51fa\u3055\u308c\u306a\u3044<\/li>\n\n\n\n<li>\u5c3f\u4e2d\u30aa\u30ed\u30c1\u30f3\u9178\uff1a\u4ee3\u8b1d\u5371\u6a5f\u306e\u3068\u304d\u306b\u9ad8\u304f\u306a\u308a\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB\"><\/span>\u907a\u4f1d\u5b50\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>ASS1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30b7\u30fc\u30b1\u30f3\u30b9\u89e3\u6790\u3067\u7d0496%\u306e\u60a3\u8005\u3055\u3093\u304c\u8a3a\u65ad\u53ef\u80fd\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3088\u308a\u307e\u308c\u306a\u30bf\u30a4\u30d7\u306e\u305f\u3081\u306b\u3001\u30de\u30eb\u30c1\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u3084\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30fb\u5168\u30b2\u30ce\u30e0\u89e3\u6790\u304c\u4f7f\u308f\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%85%B5%E7%B4%A0%E6%B4%BB%E6%80%A7%E3%81%AE%E6%A4%9C%E6%9F%BB%EF%BC%88%E3%81%BE%E3%82%8C%EF%BC%89\"><\/span>\u9175\u7d20\u6d3b\u6027\u306e\u691c\u67fb\uff08\u307e\u308c\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6b8b\u5b58\u9175\u7d20\u6d3b\u6027\u304c8%\u4ee5\u4e0b\u3067\u3042\u308c\u3070\u3001\u91cd\u75c7\u578b\u304c\u7591\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n    <a href=\"\/nipt\/alpha-thalassemia-mental-retardation-syndrome-chromosome-16-related-atr-16-syndrome-16p13\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">Alpha-thalassemia\/\u77e5\u7684\u969c\u5bb3\u75c7\u5019\u7fa4\uff08ATR-16\u75c7\u5019\u7fa4\uff09 &#8211; 16p13\u9818\u57df\u95a2\u9023 <\/div>\n          <div class=\"blog-card-excerpt\">ATR-16\u75c7\u5019\u7fa4\u306f\u3001\u67d3\u8272\u4f5316\u306e\u6b20\u5931\u306b\u3088\u308b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3001\u03b1\u30b5\u30e9\u30bb\u30df\u30a2\u3068\u77e5\u7684\u969c\u5bb3\u3092\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002\u305d\u306e\u539f\u56e0\u3001\u4e3b\u306a\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u306e\u30a2\u30d7...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%A8%E7%AE%A1%E7%90%86_Treatment_Management\"><\/span>\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%80%A5%E6%80%A7%E6%9C%9F%E3%81%AE%E5%AF%BE%E5%BF%9C%EF%BC%88%E9%AB%98%E3%82%A2%E3%83%B3%E3%83%A2%E3%83%8B%E3%82%A2%E8%A1%80%E7%97%87%EF%BC%89\"><\/span>\u6025\u6027\u671f\u306e\u5bfe\u5fdc\uff08\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u3059\u3050\u306b\u305f\u3093\u3071\u304f\u8cea\u3092\u4e2d\u6b62\uff08\u4f53\u5185\u3067\u30a2\u30f3\u30e2\u30cb\u30a2\u304c\u5897\u3048\u308b\u306e\u3092\u9632\u304e\u307e\u3059\uff09<\/li>\n\n\n\n<li>\u70b9\u6ef4\u306b\u3088\u308b\u30a2\u30eb\u30ae\u30cb\u30f3\u6295\u4e0e\u3084\u7a92\u7d20\u30b9\u30ab\u30d9\u30f3\u30b8\u30e3\u30fc\u85ac\uff08\u30d5\u30a7\u30cb\u30eb\u916a\u9178\u306a\u3069\uff09\u3092\u4f7f\u7528<\/li>\n\n\n\n<li>\u8840\u6db2\u900f\u6790\u3084\u8840\u6db2\u6d44\u5316\u7642\u6cd5\uff08\u30a2\u30f3\u30e2\u30cb\u30a2\u304c\u975e\u5e38\u306b\u9ad8\u3044\u3068\u304d\uff09<\/li>\n\n\n\n<li>\u8133\u6d6e\u816b\u306e\u7ba1\u7406\uff08\u6c34\u5206\u5236\u9650\u3084\u8133\u5727\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\uff09<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%95%B7%E6%9C%9F%E7%AE%A1%E7%90%86\"><\/span>\u9577\u671f\u7ba1\u7406<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u305f\u3093\u3071\u304f\u8cea\u5236\u9650\u98df\uff1a\u5e74\u9f62\u30fb\u4f53\u91cd\u306b\u5fdc\u3058\u305f\u9069\u5207\u306a\u5236\u9650\u304c\u5fc5\u8981\u3067\u3059<\/li>\n\n\n\n<li>\u85ac\u7269\u7642\u6cd5\n<ul class=\"wp-block-list\">\n<li>\u7a92\u7d20\u30b9\u30ab\u30d9\u30f3\u30b8\u30e3\u30fc\u85ac<\/li>\n\n\n\n<li>\u30a2\u30eb\u30ae\u30cb\u30f3\u306e\u88dc\u5145<\/li>\n\n\n\n<li>\u30ab\u30eb\u30cb\u30c1\u30f3\uff08\u5fc5\u8981\u306b\u5fdc\u3058\u3066\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u767a\u80b2\u3068\u767a\u9054\u306e\u652f\u63f4\n<ul class=\"wp-block-list\">\n<li>\u7406\u5b66\u7642\u6cd5\u3001\u4f5c\u696d\u7642\u6cd5\u3001\u8a00\u8a9e\u7642\u6cd5\u306a\u3069<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u611f\u67d3\u75c7\u306e\u4e88\u9632\u3068\u8fc5\u901f\u306a\u5bfe\u5fdc\uff1a\u611f\u67d3\u306f\u4ee3\u8b1d\u5371\u6a5f\u306e\u5f15\u304d\u91d1\u306b\u306a\u308a\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%82%9D%E7%A7%BB%E6%A4%8D\"><\/span>\u809d\u79fb\u690d<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6839\u6cbb\u7642\u6cd5\uff08\u75c5\u6c17\u3092\u5b8c\u5168\u306b\u6cbb\u3059\u624b\u6bb5\uff09\u3068\u3057\u3066\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u751f\u5f8c3\u30f6\u6708\u4ee5\u964d\u3001\u4f53\u91cd5kg\u4ee5\u4e0a\u304c\u76ee\u5b89\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u305f\u3060\u3057\u3001\u3059\u3067\u306b\u8d77\u304d\u3066\u3057\u307e\u3063\u305f\u8133\u969c\u5bb3\u306f\u56de\u5fa9\u3057\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BA%88%E5%BE%8C_Prognosis\"><\/span>\u4e88\u5f8c | Prognosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u826f\u3044\u4e88\u5f8c\u306e\u305f\u3081\u306b\u306f\u65e9\u671f\u8a3a\u65ad\u3068\u65e9\u671f\u6cbb\u7642\u304c\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u521d\u56de\u306e\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u767a\u4f5c\u304c\u65e9\u304f\u6cbb\u7642\u3055\u308c\u308c\u3070\u3001\u9577\u671f\u7684\u306a\u751f\u6d3b\u306e\u8cea\u3092\u5927\u304d\u304f\u6539\u5584\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u653e\u7f6e\u3057\u305f\u308a\u8a3a\u65ad\u304c\u9045\u308c\u308b\u3068\u3001\u8133\u969c\u5bb3\u306a\u3069\u306e\u5f8c\u907a\u75c7\u304c\u6b8b\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u809d\u79fb\u690d\u5f8c\u306f\u30a2\u30f3\u30e2\u30cb\u30a2\u306e\u554f\u984c\u306f\u306a\u304f\u306a\u308a\u307e\u3059\u304c\u3001\u79fb\u690d\u524d\u306e\u8133\u306e\u30c0\u30e1\u30fc\u30b8\u304c\u5b8c\u5168\u306b\u6cbb\u308b\u3068\u306f\u9650\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\"><\/span>\u5f15\u7528\u6587\u732e\uff5cReferences<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1458\/\">Quinonez SC, Lee KN. Citrullinemia Type I. 2004 Jul 7 [Updated 2022 Aug 18]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1458\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/jimd.12722\">Kido, Jun, et al. \u2018Clinical Landscape of Citrin Deficiency: A Global Perspective on a Multifaceted Condition\u2019. <em>Journal of Inherited Metabolic Disease<\/em>, vol. 47, no. 6, Nov. 2024, pp. 1144\u201356. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1002\/jimd.12722.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.2169\/internalmedicine.2595-23\">Hayasaka, Kiyoshi. \u2018Pathogenesis and Management of Citrin Deficiency\u2019. <em>Internal Medicine<\/em>, vol. 63, no. 14, July 2024, pp. 1977\u201386. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.2169\/internalmedicine.2595-23.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/jimd.12772\">H\u00e4berle, Johannes. \u2018Citrin Deficiency\u2014The East\u2010side Story\u2019. <em>Journal of Inherited Metabolic Disease<\/em>, vol. 47, no. 6, Nov. 2024, pp. 1129\u201333. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1002\/jimd.12772.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s12884-022-05298-3\">Zhou, Y., Dou, X., Zhang, C. <em>et al.<\/em> Hyperammonemia in a pregnant woman with citrullinemia type I: a case report and literature review. <em>BMC Pregnancy Childbirth<\/em> <strong>22<\/strong>, 950 (2022). https:\/\/doi.org\/10.1186\/s12884-022-05298-3<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.21203\/rs.3.rs-1162222\/v1\">Li, Jiapo, et al. <em>Pregnancy-Related Type Citrullinemia Type 1: An Analysis of 14 Cases and Review of the Literature<\/em>. 22 Dec. 2021. <em>In Review<\/em>, https:\/\/doi.org\/10.21203\/rs.3.rs-1162222\/v1.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1155\/humu\/9326326\">Kido, Jun, et al. \u2018Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review\u2019. <em>Human Mutation<\/em>, edited by George P. Patrinos, vol. 2025, no. 1, Jan. 2025, p. 9326326. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1155\/humu\/9326326.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39460617\/\">Perez G, Barber GP, Benet-Pages A, Casper J, Clawson H, Diekhans M, Fischer C, Gonzalez JN, Hinrichs AS, Lee CM, Nassar LR, Raney BJ, Speir ML, van Baren MJ, Vaske CJ, Haussler D, Kent WJ, Haeussler M. The UCSC Genome Browser database: 2025 update. Nucleic Acids Res. 2025 Jan 6;53(D1):D1243-D1249. doi: 10.1093\/nar\/gkae974. 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