{"id":111663,"date":"2025-06-13T12:27:36","date_gmt":"2025-06-13T03:27:36","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/"},"modified":"2025-08-22T16:14:04","modified_gmt":"2025-08-22T07:14:04","slug":"glycine-encephalopathy-amt-overview","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/?lang=en","title":{"rendered":"\u975e\u30b1\u30c8\u30f3\u6027\u9ad8\u30b0\u30ea\u30b7\u30f3\u8840\u75c7\uff08\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\uff09\uff3bAMT\u95a2\u9023d\u578b\uff3d"},"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_83 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\/glycine-encephalopathy-amt-overview\/?lang=en\/#%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\/glycine-encephalopathy-amt-overview\/?lang=en\/#%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\/glycine-encephalopathy-amt-overview\/?lang=en\/#%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\/glycine-encephalopathy-amt-overview\/?lang=en\/#%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\/glycine-encephalopathy-amt-overview\/?lang=en\/#%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\/glycine-encephalopathy-amt-overview\/?lang=en\/#%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\/glycine-encephalopathy-amt-overview\/?lang=en\/#%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\/glycine-encephalopathy-amt-overview\/?lang=en\/#%E2%96%A0_%E9%87%8D%E7%97%87%E5%9E%8B%EF%BC%88%E6%96%B0%E7%94%9F%E5%85%90%E5%9E%8B%E3%83%BB%E6%9C%80%E3%82%82%E5%A4%9A%E3%81%84%EF%BC%89\" >\u25a0 \u91cd\u75c7\u578b\uff08\u65b0\u751f\u5150\u578b\u30fb\u6700\u3082\u591a\u3044\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\/glycine-encephalopathy-amt-overview\/?lang=en\/#%E2%96%A0_%E8%BB%BD%E7%97%87%E5%9E%8B%EF%BC%88%E7%B7%A9%E5%BE%90%E9%80%B2%E8%A1%8C%E5%9E%8B%EF%BC%8F%E9%81%85%E7%99%BA%E5%9E%8B%EF%BC%89\" >\u25a0 \u8efd\u75c7\u578b\uff08\u7de9\u5f90\u9032\u884c\u578b\uff0f\u9045\u767a\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\/glycine-encephalopathy-amt-overview\/?lang=en\/#%E2%96%A0_%E6%99%A9%E7%99%BA%E5%9E%8B%EF%BC%88%E3%81%BE%E3%82%8C%EF%BC%89\" >\u25a0 \u6669\u767a\u578b\uff08\u307e\u308c\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\/glycine-encephalopathy-amt-overview\/?lang=en\/#%E2%96%A0_%E4%B8%80%E9%81%8E%E6%80%A7%E5%9E%8B%EF%BC%88%E3%81%94%E3%81%8F%E3%81%BE%E3%82%8C%E3%83%BB%E4%BA%88%E5%BE%8C%E8%89%AF%E5%A5%BD%EF%BC%89\" >\u25a0 \u4e00\u904e\u6027\u578b\uff08\u3054\u304f\u307e\u308c\u30fb\u4e88\u5f8c\u826f\u597d\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\/glycine-encephalopathy-amt-overview\/?lang=en\/#%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><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/?lang=en\/#%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-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/?lang=en\/#%E2%96%A0_%E3%82%B0%E3%83%AA%E3%82%B7%E3%83%B3%E3%82%92%E6%B8%9B%E3%82%89%E3%81%99%E6%B2%BB%E7%99%82\" >\u25a0 \u30b0\u30ea\u30b7\u30f3\u3092\u6e1b\u3089\u3059\u6cbb\u7642<\/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\/glycine-encephalopathy-amt-overview\/?lang=en\/#%E2%96%A0_NMDA%E5%8F%97%E5%AE%B9%E4%BD%93%E9%98%BB%E5%AE%B3%E8%96%AC\" >\u25a0 NMDA\u53d7\u5bb9\u4f53\u963b\u5bb3\u85ac<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/?lang=en\/#%E2%96%A0_%E3%81%91%E3%81%84%E3%82%8C%E3%82%93%E3%81%AE%E6%B2%BB%E7%99%82\" >\u25a0 \u3051\u3044\u308c\u3093\u306e\u6cbb\u7642<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/?lang=en\/#%E2%96%A0_%E6%94%AF%E6%8F%B4%E7%9A%84%E3%82%B1%E3%82%A2\" >\u25a0 \u652f\u63f4\u7684\u30b1\u30a2<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/?lang=en\/#%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-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/?lang=en\/#%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-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/?lang=en\/#%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>This article explores AMT-related nonketotic hyperglycinemia, a rare genetic condition that disrupts glycine metabolism and affects brain function. It provides a clear overview of the underlying genetics, clinical presentations from severe neonatal to mild forms, diagnostic strategies, and current approaches to management and care.\n<\/p>\n\n<p>\u8d64\u3061\u3083\u3093\u306e\u4f53\u306b\u300c\u30b0\u30ea\u30b7\u30f3\u300d\u3068\u3044\u3046\u30a2\u30df\u30ce\u9178\u304c\u305f\u307e\u308a\u3059\u304e\u3066\u3057\u307e\u3046\u3053\u3068\u3067\u3001<br>\n\u3051\u3044\u308c\u3093\u3084\u7b4b\u8089\u306e\u3086\u308b\u307f\u3001\u547c\u5438\u306e\u554f\u984c\u3001\u610f\u8b58\u969c\u5bb3\u306a\u3069\u306e\u75c7\u72b6\u304c\u73fe\u308c\u308b\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n<p>\u3053\u306e\u75c5\u6c17\u306e\u539f\u56e0\u3084\u75c7\u72b6\u306e\u3042\u3089\u308f\u308c\u65b9\u3001\u691c\u67fb\u306e\u5185\u5bb9\u3001\u73fe\u5728\u884c\u308f\u308c\u3066\u3044\u308b\u6cbb\u7642\u3001<br>\n\u305d\u3057\u3066\u5c06\u6765\u3078\u306e\u898b\u901a\u3057\uff08\u4e88\u5f8c\uff09\u306b\u3064\u3044\u3066\u3001\u3084\u3055\u3057\u3044\u8a00\u8449\u3067\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n<p>\u3054\u5bb6\u65cf\u3084\u533b\u7642\u95a2\u4fc2\u8005\u306e\u65b9\u306b\u3082\u5b89\u5fc3\u3057\u3066\u8aad\u3093\u3067\u3044\u305f\u3060\u3051\u308b\u3088\u3046\u3001<br>\n\u5c02\u9580\u7528\u8a9e\u306b\u306f\u8aac\u660e\u3092\u6dfb\u3048\u306a\u304c\u3089\u3001\u79d1\u5b66\u7684\u306b\u6b63\u3057\u3044\u60c5\u5831\u3092\u5fc3\u304c\u3051\u3066\u3044\u307e\u3059\u3002<\/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>AMT<\/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\/AMT-hgtIdeo_genome_339e1f_b7d380-1024x25.png\" alt=\"AMT\" class=\"wp-image-101264\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50\uff1a AMT\uff08\u30a2\u30df\u30ce\u30e1\u30c1\u30eb\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc \/ aminomethyltransferase\uff09<br>\u907a\u4f1d\u5b50\u5ea7\uff08\u5834\u6240\uff09\uff1a \u7b2c3\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff083p21.31\uff09<br>\u50cd\u304d\uff1a AMT\u907a\u4f1d\u5b50\u306f\u300cT\u30bf\u30f3\u30d1\u30af\u8cea\uff08T-protein\uff09\u300d\u3068\u3044\u3046\u9175\u7d20\u3092\u4f5c\u308b\u305f\u3081\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u3053\u306e\u9175\u7d20\u306f\u3001\u7d30\u80de\u306e\u4e2d\u306e\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\uff08\u30a8\u30cd\u30eb\u30ae\u30fc\u3092\u3064\u304f\u308b\u5834\u6240\uff09\u306b\u3042\u308b\u300c\u30b0\u30ea\u30b7\u30f3\u958b\u88c2\u7cfb\uff08glycine cleavage system\uff1aGCS\uff09\u300d\u3068\u3044\u3046\u4ed5\u7d44\u307f\u306e\u4e00\u90e8\u3067\u3001\u30b0\u30ea\u30b7\u30f3\u3068\u3044\u3046\u30a2\u30df\u30ce\u9178\u3092\u5206\u89e3\u3059\u308b\u5f79\u5272\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u95a2\u4fc2\u3059\u308b\u4ed6\u306e\u907a\u4f1d\u5b50\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>GLDC\uff08\u30b0\u30ea\u30b7\u30f3\u8131\u70ad\u9178\u9175\u7d20 \/ glycine decarboxylase\uff09: \u7d0475\u301c80\uff05\u306e\u75c7\u4f8b\u3067\u95a2\u4e0e<\/li>\n\n\n\n<li>GCSH\uff08H\u30bf\u30f3\u30d1\u30af\u8cea \/ H-protein\uff09: \u3054\u304f\u307e\u308c\uff081\uff05\u672a\u6e80\uff09<\/li>\n\n\n\n<li>DLD\uff08\u30b8\u30d2\u30c9\u30ed\u30ea\u30dd\u30a2\u30df\u30c9\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc \/ dihydrolipoamide dehydrogenase\uff09: \u4ed6\u306e\u4ee3\u8b1d\u7d4c\u8def\u306b\u3082\u95a2\u308f\u308b\u95a2\u9023\u907a\u4f1d\u5b50<\/li>\n<\/ul>\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>\u6b63\u5f0f\u540d\u79f0\uff1a \u30b0\u30ea\u30b7\u30f3\u8133\u75c7\uff08Glycine Encephalopathy\uff09<br>\u5225\u540d\u30fb\u7565\u79f0\uff1a \u975e\u30b1\u30c8\u30f3\u6027\u9ad8\u30b0\u30ea\u30b7\u30f3\u8840\u75c7\uff08Nonketotic Hyperglycinemia\uff1aNKH\uff09\u3001\u30b0\u30ea\u30b7\u30f3\u5408\u6210\u9175\u7d20\u6b20\u640d\u75c7\uff08Glycine Synthase Deficiency\uff09\u3001NKA \u306a\u3069<\/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>\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\uff08\u307e\u305f\u306f\u975e\u30b1\u30c8\u30f3\u6027\u9ad8\u30b0\u30ea\u30b7\u30f3\u8840\u75c7\uff09\u306f\u3001\u305f\u3044\u3078\u3093\u7a00\uff08\u307e\u308c\uff09\u306a\u907a\u4f1d\u6027\u306e\u4ee3\u8b1d\u6027\u8133\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75c5\u6c17\u3067\u306f\u3001\u30b0\u30ea\u30b7\u30f3\u3068\u3044\u3046\u30a2\u30df\u30ce\u9178\uff08\u305f\u3093\u3071\u304f\u8cea\u3092\u3064\u304f\u308b\u6750\u6599\uff09\u304c\u4f53\u5185\u306b\u7570\u5e38\u306b\u305f\u307e\u308a\u3001\u7279\u306b\u8133\u306b\u591a\u304f\u84c4\u7a4d\u3055\u308c\u308b\u3053\u3068\u3067\u3001\u795e\u7d4c\u306e\u50cd\u304d\u306b\u6df1\u523b\u306a\u5f71\u97ff\u304c\u51fa\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30b0\u30ea\u30b7\u30f3\u306f\u3001\u901a\u5e38\u3001\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\uff08neurotransmitter\uff1a\u8133\u5185\u3067\u4fe1\u53f7\u3092\u4f1d\u3048\u308b\u7269\u8cea\uff09\u3068\u3057\u3066\u3001\u4f53\u306b\u5fc5\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u904e\u5270\u306b\u306a\u308b\u3068\u8133\u795e\u7d4c\u3092\u904e\u5ea6\u306b\u8208\u596e\u3055\u305b\u3066\u3057\u307e\u3044\u3001\u3051\u3044\u308c\u3093\u3084\u547c\u5438\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u306e\u300c\u30b0\u30ea\u30b7\u30f3\u958b\u88c2\u7cfb\uff08glycine cleavage system\uff1aGCS\uff09\u300d\u3068\u3044\u30464\u3064\u306e\u9175\u7d20\u306e\u306f\u305f\u3089\u304d\u306b\u7570\u5e38\u304c\u3042\u308b\u305f\u3081\u306b\u8d77\u3053\u308a\u307e\u3059\u3002\u305d\u306e\u4e00\u3064\u3067\u3042\u308bAMT\u907a\u4f1d\u5b50\u306e\u5909\u7570\uff08\u3078\u3093\u3044\uff1a\u907a\u4f1d\u5b50\u306e\u8aa4\u308a\uff09\u304c\u539f\u56e0\u3068\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u3001\u5168\u4f53\u306e\u7d0420\uff05\u304c\u3053\u308c\u306b\u3042\u305f\u308a\u307e\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<ul class=\"wp-block-list\">\n<li>\u51fa\u751f\u6642\u306e\u767a\u75c7\u983b\u5ea6<br>\n<ul class=\"wp-block-list\">\n<li>\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\uff1a5.5\u4e07\u4eba\u306b1\u4eba<\/li>\n\n\n\n<li>\u30ab\u30ca\u30c0\uff08\u30d6\u30ea\u30c6\u30a3\u30c3\u30b7\u30e5\u30fb\u30b3\u30ed\u30f3\u30d3\u30a2\u5dde\uff09\uff1a6.3\u4e07\u4eba\u306b1\u4eba<\/li>\n\n\n\n<li>\u4e16\u754c\u7684\u306a\u63a8\u5b9a\uff1a7.6\u4e07\u4eba\u306b1\u4eba<\/li>\n\n\n\n<li>\u5317\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\uff1a1.2\u4e07\u4eba\u306b1\u4eba\uff08\u5c40\u6240\u7684\u306b\u591a\u3044\u5730\u57df\uff09<\/li>\n\n\n\n<li>\u53f0\u6e7e\uff1a\u51fa\u751f10\u4e07\u4eba\u3042\u305f\u308a7.2\u4eba<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u907a\u4f1d\u5f62\u5f0f\uff1a <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-recessive-genetics-support\/\">\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d<\/a>\uff08autosomal recessive inheritance\uff09<\/li>\n<\/ul>\n\n\n\n<p><sup>\u203b \u4e21\u89aa\u304c\u3068\u3082\u306b\u4fdd\u56e0\u8005\uff08\u7570\u5e38\u907a\u4f1d\u5b50\u30921\u3064\u305a\u3064\u6301\u3063\u3066\u3044\u308b\uff09\u3067\u3042\u308b\u5834\u5408\u300125\uff05\u306e\u78ba\u7387\u3067\u5b50\u3069\u3082\u304c\u767a\u75c7\u3057\u307e\u3059\u3002<\/sup><\/p>\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\u306f\u3001\u30b0\u30ea\u30b7\u30f3\u3068\u3044\u3046\u30a2\u30df\u30ce\u9178\u3092\u5206\u89e3\u3067\u304d\u306a\u304f\u306a\u308b\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u3063\u3066\u8d77\u3053\u308a\u307e\u3059\u3002AMT\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u306f\u3001\u300cT\u30bf\u30f3\u30d1\u30af\u8cea\uff08aminomethyltransferase\uff09\u300d\u304c\u4f5c\u308c\u305a\u3001\u30b0\u30ea\u30b7\u30f3\u958b\u88c2\u7cfb\u304c\u3046\u307e\u304f\u6a5f\u80fd\u3057\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9175\u7d20\u306e\u50cd\u304d\u304c\u5931\u308f\u308c\u308b\u3068\u3001\u30b0\u30ea\u30b7\u30f3\u304c\u8133\u3084\u810a\u9ac4\u306a\u3069\u306b\u84c4\u7a4d\u3057\u3001\u8133\u7d30\u80de\u304c\u904e\u5270\u306b\u523a\u6fc0\u3055\u308c\u3066\u3057\u307e\u3044\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3068\u3057\u3066\u3001\u795e\u7d4c\u7d30\u80de\u304c\u50b7\u3064\u304d\u3001\u3055\u307e\u3056\u307e\u306a\u795e\u7d4c\u75c7\u72b6\u304c\u3042\u3089\u308f\u308c\u308b\u306e\u3067\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<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%96%A0_%E9%87%8D%E7%97%87%E5%9E%8B%EF%BC%88%E6%96%B0%E7%94%9F%E5%85%90%E5%9E%8B%E3%83%BB%E6%9C%80%E3%82%82%E5%A4%9A%E3%81%84%EF%BC%89\"><\/span>\u25a0 \u91cd\u75c7\u578b\uff08\u65b0\u751f\u5150\u578b\u30fb\u6700\u3082\u591a\u3044\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u751f\u5f8c2\u301c5\u65e5\u4ee5\u5185\u306b\u767a\u75c7<\/li>\n\n\n\n<li>\u5178\u578b\u7684\u306a\u75c7\u72b6\n<ul class=\"wp-block-list\">\n<li>\u5f37\u3044\u7720\u6c17\u3001\u53cd\u5fdc\u304c\u4e4f\u3057\u3044\uff08\u55dc\u7720\uff09<\/li>\n\n\n\n<li>\u7b4b\u8089\u306e\u529b\u304c\u5f31\u3044\uff08\u4f4e\u7dca\u5f35\uff09<\/li>\n\n\n\n<li>\u3051\u3044\u308c\u3093\uff08\u7279\u306b\u30df\u30aa\u30af\u30ed\u30fc\u30cc\u30b9\u767a\u4f5c\uff09<\/li>\n\n\n\n<li>\u81ea\u767a\u547c\u5438\u304c\u3067\u304d\u306a\u3044\uff08\u7121\u547c\u5438\uff09<\/li>\n\n\n\n<li>\u6301\u7d9a\u3059\u308b\u3057\u3083\u3063\u304f\u308a<\/li>\n\n\n\n<li>\u660f\u7761\u72b6\u614b<\/li>\n\n\n\n<li>EEG\uff08\u8133\u6ce2\uff09\uff1a\u30d0\u30fc\u30b9\u30c8\u30fb\u30b5\u30d7\u30ec\u30c3\u30b7\u30e7\u30f3\u30d1\u30bf\u30fc\u30f3<\/li>\n\n\n\n<li>MRI\uff1a\u8133\u6881\uff08\u306e\u3046\u308a\u3087\u3046\uff09\u306e\u5f62\u6210\u7570\u5e38\u3001\u5c0f\u8133\u30fb\u8133\u5e79\u306e\u4fe1\u53f7\u7570\u5e38<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%96%A0_%E8%BB%BD%E7%97%87%E5%9E%8B%EF%BC%88%E7%B7%A9%E5%BE%90%E9%80%B2%E8%A1%8C%E5%9E%8B%EF%BC%8F%E9%81%85%E7%99%BA%E5%9E%8B%EF%BC%89\"><\/span>\u25a0 \u8efd\u75c7\u578b\uff08\u7de9\u5f90\u9032\u884c\u578b\uff0f\u9045\u767a\u578b\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u65b0\u751f\u5150\u671f\u301c\u4e73\u5150\u671f\u306b\u767a\u75c7<\/li>\n\n\n\n<li>\u75c7\u72b6\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u306e\u9045\u308c\u306f\u3042\u308b\u304c\u3001\u4e00\u90e8\u306e\u904b\u52d5\u3084\u8a00\u8a9e\u306e\u767a\u9054\u304c\u307f\u3089\u308c\u308b<\/li>\n\n\n\n<li>\u8efd\u3044\u3051\u3044\u308c\u3093\u3084\u6ce8\u610f\u6b20\u5982\u3001\u624b\u8db3\u306e\u3064\u3063\u3071\u308a\uff08\u75d9\u7e2e\uff09\u3001\u4e0d\u968f\u610f\u904b\u52d5\uff08\u821e\u8e0f\u904b\u52d5\uff09\u306a\u3069<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%96%A0_%E6%99%A9%E7%99%BA%E5%9E%8B%EF%BC%88%E3%81%BE%E3%82%8C%EF%BC%89\"><\/span>\u25a0 \u6669\u767a\u578b\uff08\u307e\u308c\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u75c7\u5e74\u9f62\uff1a2\u6b73\u4ee5\u964d<\/li>\n\n\n\n<li>\u75c7\u72b6\uff1a\u8996\u795e\u7d4c\u840e\u7e2e\u3001\u75d9\u6027\u4e21\u9ebb\u75fa\u3001\u8a8d\u77e5\u969c\u5bb3\u306a\u3069<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%96%A0_%E4%B8%80%E9%81%8E%E6%80%A7%E5%9E%8B%EF%BC%88%E3%81%94%E3%81%8F%E3%81%BE%E3%82%8C%E3%83%BB%E4%BA%88%E5%BE%8C%E8%89%AF%E5%A5%BD%EF%BC%89\"><\/span>\u25a0 \u4e00\u904e\u6027\u578b\uff08\u3054\u304f\u307e\u308c\u30fb\u4e88\u5f8c\u826f\u597d\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u751f\u5f8c\u6570\u9031\u9593\u3067\u4e00\u6642\u7684\u306b\u75c7\u72b6\u304c\u73fe\u308c\u308b\u304c\u3001\u81ea\u7136\u306b\u56de\u5fa9<\/li>\n\n\n\n<li>\u539f\u56e0\u306f\u809d\u81d3\u3084\u8133\u306e\u9175\u7d20\u306e\u6210\u719f\u306e\u9045\u308c\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059<\/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<p>\u8a3a\u65ad\u306e\u30dd\u30a4\u30f3\u30c8\u306f\u3001\u300c\u539f\u56e0\u4e0d\u660e\u306e\u3051\u3044\u308c\u3093\u30fb\u7121\u547c\u5438\u30fb\u7b4b\u529b\u4f4e\u4e0b\u300d\u306b\u6c17\u3065\u304f\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u25cf \u8840\u6db2\u30fb\u8133\u810a\u9ac4\u6db2\u306e\u691c\u67fb<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8840\u6f3f\u30b0\u30ea\u30b7\u30f3\u6fc3\u5ea6\uff1a\u901a\u5e38\u3088\u308a\u9ad8\u5024\uff08&gt; 426\u03bcmol\/L\uff09<\/li>\n\n\n\n<li>\u9ac4\u6db2\u30b0\u30ea\u30b7\u30f3\u6fc3\u5ea6\uff1a\u7279\u306b\u91cd\u75c7\u4f8b\u3067\u306f230\u03bcmol\/L\u3092\u8d85\u3048\u308b\u3053\u3068\u304c\u591a\u3044<\/li>\n\n\n\n<li>\u9ac4\u6db2\u3068\u8840\u6f3f\u306e\u30b0\u30ea\u30b7\u30f3\u6bd4\uff08CSF\/plasma\u6bd4\uff09\uff1a0.08\u3092\u8d85\u3048\u308b\u3068NKH\u3092\u5f37\u304f\u7591\u3044\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<p>\u25cf \u753b\u50cf\u691c\u67fb<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>MRI\uff08\u8133\u306e\u7cbe\u5bc6\u691c\u67fb\uff09\uff1a\u8133\u6881\u306e\u5f62\u6210\u4e0d\u5168\u3001\u5c0f\u8133\u3084\u8133\u5e79\u306e\u7570\u5e38\u3001\u8133\u840e\u7e2e\u306a\u3069\u304c\u898b\u3089\u308c\u307e\u3059<\/li>\n\n\n\n<li>MRS\uff08\u78c1\u6c17\u5171\u9cf4\u5206\u5149\u6cd5\uff09\uff1a\u30b0\u30ea\u30b7\u30f3\u306e\u30d4\u30fc\u30af\uff083.6 ppm\uff09\u3092\u691c\u51fa\u53ef\u80fd<\/li>\n<\/ul>\n\n\n\n<p>\u25cf \u907a\u4f1d\u5b50\u691c\u67fb<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>GLDC\u3001AMT\u3001GCSH\u907a\u4f1d\u5b50\u306a\u3069\u3092\u542b\u3080\u30de\u30eb\u30c1\u30d1\u30cd\u30eb\u691c\u67fb\u304c\u6709\u52b9<\/li>\n\n\n\n<li>Whole Exome Sequencing\uff08\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff09\u3082\u63a8\u5968<\/li>\n\n\n\n<li>\u5bb6\u65cf\u6b74\u304c\u3042\u308b\u5834\u5408\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3084\u4fdd\u56e0\u8005\u691c\u67fb\u3082\u53ef\u80fd<\/li>\n<\/ul>\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<p>\u73fe\u5728\u306e\u3068\u3053\u308d\u3001\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u3044\u304f\u3064\u304b\u306e\u65b9\u6cd5\u3067\u75c7\u72b6\u306e\u7de9\u548c\u304c\u671f\u5f85\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%96%A0_%E3%82%B0%E3%83%AA%E3%82%B7%E3%83%B3%E3%82%92%E6%B8%9B%E3%82%89%E3%81%99%E6%B2%BB%E7%99%82\"><\/span>\u25a0 \u30b0\u30ea\u30b7\u30f3\u3092\u6e1b\u3089\u3059\u6cbb\u7642<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30d9\u30f3\u30be\u30a8\u30fc\u30c8\u30ca\u30c8\u30ea\u30a6\u30e0\uff08Sodium Benzoate\uff09<br>\u3000\u4f53\u5185\u306e\u4f59\u5206\u306a\u30b0\u30ea\u30b7\u30f3\u3068\u7d50\u3073\u3064\u3044\u3066\u5c3f\u304b\u3089\u6392\u51fa\u3055\u305b\u307e\u3059<br>\u3000\u6295\u4e0e\u91cf\uff1a200\u301c750 mg\/kg\/\u65e5<br>\u3000\u76ee\u6a19\uff1a\u8840\u4e2d\u30b0\u30ea\u30b7\u30f3 120\u301c300 \u03bcmol\/L<br>\u3000\u526f\u4f5c\u7528\uff1a\u80c3\u8178\u969c\u5bb3\u3001\u30ab\u30eb\u30cb\u30c1\u30f3\u4e0d\u8db3<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%96%A0_NMDA%E5%8F%97%E5%AE%B9%E4%BD%93%E9%98%BB%E5%AE%B3%E8%96%AC\"><\/span>\u25a0 NMDA\u53d7\u5bb9\u4f53\u963b\u5bb3\u85ac<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30c7\u30ad\u30b9\u30c8\u30ed\u30e1\u30c8\u30eb\u30d5\u30a1\u30f3\uff08Dextromethorphan\uff09<br>\u3000\u8133\u306e\u904e\u5270\u8208\u596e\u3092\u6291\u3048\u3001\u3051\u3044\u308c\u3093\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3092\u88dc\u52a9<br>\u3000\u4f7f\u7528\u91cf\uff1a3\u301c15 mg\/kg\/\u65e5<\/li>\n\n\n\n<li>\u305d\u306e\u4ed6\uff1a\u30b1\u30bf\u30df\u30f3\u3001\u30d5\u30a7\u30eb\u30d0\u30e1\u30fc\u30c8\u306a\u3069\uff08\u5fc5\u8981\u306b\u5fdc\u3058\u3066\uff09<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%96%A0_%E3%81%91%E3%81%84%E3%82%8C%E3%82%93%E3%81%AE%E6%B2%BB%E7%99%82\"><\/span>\u25a0 \u3051\u3044\u308c\u3093\u306e\u6cbb\u7642<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30d9\u30f3\u30be\u30a8\u30fc\u30c8\uff0b\u30c7\u30ad\u30b9\u30c8\u30ed\u30e1\u30c8\u30eb\u30d5\u30a1\u30f3 \u00b1 \u30af\u30ed\u30d0\u30b6\u30e0\uff08Clobazam\uff09<\/li>\n\n\n\n<li>\u96e3\u6cbb\u6027\u306e\u5834\u5408\uff1a\u30b1\u30c8\u30f3\u98df\u7642\u6cd5\u3001\u8ff7\u8d70\u795e\u7d4c\u523a\u6fc0\u7642\u6cd5\u306a\u3069<\/li>\n\n\n\n<li>\u4f7f\u7528\u3092\u907f\u3051\u308b\u85ac\uff1a \u30d0\u30eb\u30d7\u30ed\u9178\u3001\u30d3\u30ac\u30d0\u30c8\u30ea\u30f3\uff08\u75c7\u72b6\u60aa\u5316\u306e\u53ef\u80fd\u6027\uff09<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%96%A0_%E6%94%AF%E6%8F%B4%E7%9A%84%E3%82%B1%E3%82%A2\"><\/span>\u25a0 \u652f\u63f4\u7684\u30b1\u30a2<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7406\u5b66\u7642\u6cd5\u3001\u4f5c\u696d\u7642\u6cd5\u3001\u8a00\u8a9e\u7642\u6cd5<\/li>\n\n\n\n<li>\u7d4c\u7ba1\u6804\u990a\u3084\u80c3\u308d\u3046\u7ba1\u7406<\/li>\n\n\n\n<li>\u547c\u5438\u30fb\u6574\u5f62\u5916\u79d1\u30fb\u5fc3\u81d3\u691c\u67fb\u306e\u5b9a\u671f\u7684\u306a\u30d5\u30a9\u30ed\u30fc<\/li>\n\n\n\n<li>\u6559\u80b2\u9762\u306e\u652f\u63f4<\/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>\u91cd\u75c7\u578b\uff08\u65b0\u751f\u5150\u578b\uff09\uff1a \u4e88\u5f8c\u306f\u4e0d\u826f\u3067\u3059\u3002\u751f\u5f8c\u6570\u9031\u4ee5\u5185\u306b\u6b7b\u4ea1\u3059\u308b\u30b1\u30fc\u30b9\u304c\u591a\u304f\u3001\u751f\u5b58\u3057\u3066\u3082\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3084\u96e3\u6cbb\u6027\u3051\u3044\u308c\u3093\u304c\u6b8b\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8efd\u75c7\u578b\uff08\u7de9\u5f90\u9032\u884c\u578b\uff09\uff1a \u767a\u9054\u306b\u3070\u3089\u3064\u304d\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3042\u308b\u7a0b\u5ea6\u306e\u81ea\u7acb\u3084\u793e\u4f1a\u7684\u4ea4\u6d41\u304c\u53ef\u80fd\u306a\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e00\u904e\u6027\u578b\uff1a \u6bd4\u8f03\u7684\u826f\u597d\u306a\u7d4c\u904e\u3092\u305f\u3069\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e88\u5f8c\u306e\u6307\u6a19\n<ul class=\"wp-block-list\">\n<li>\u9ac4\u6db2\u30b0\u30ea\u30b7\u30f3 &gt; 230 \u03bcmol\/L \u2192 \u91cd\u75c7\u4f8b\u306e\u53ef\u80fd\u6027\u304c\u9ad8\u3044<\/li>\n\n\n\n<li>\u9ac4\u6db2\/\u8840\u6f3f\u6bd4 &gt; 0.08 \u2192 \u8a3a\u65ad\u7684<\/li>\n\n\n\n<li>MRI\u3067\u306e\u8133\u6881\u306e\u7570\u5e38\u30fb\u8133\u840e\u7e2e \u2192 \u91cd\u5ea6\u306e\u7d4c\u904e\u3092\u793a\u5506<\/li>\n\n\n\n<li>\u821e\u8e0f\u904b\u52d5\u304c\u3042\u308b \u2192 \u8efd\u75c7\u306e\u5146\u5019<\/li>\n<\/ul>\n<\/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\/NBK1357\/\">Van Hove JLK, Coughlin C II, Swanson M, et al. Nonketotic Hyperglycinemia. 2002 Nov 14 [Updated 2019 May 23]. 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\/NBK1357\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s41983-022-00567-6\">Bhumika, S., Basalingappa, K.M., Gopenath, T.S. <em>et al.<\/em> Glycine encephalopathy. <em>Egypt J Neurol Psychiatry Neurosurg<\/em> <strong>58<\/strong>, 132 (2022). https:\/\/doi.org\/10.1186\/s41983-022-00567-6<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fneur.2024.1440883\">Zhou, Zhizi, et al. \u2018Natural History and Outcome of Nonketotic Hyperglycinemia in China\u2019. <em>Frontiers in Neurology<\/em>, vol. 15, Aug. 2024, p. 1440883. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.3389\/fneur.2024.1440883.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s12640-024-00711-5\">Leipnitz, G., da Rosa, J.S. &amp; Wajner, M. The Role of Excitotoxicity, Oxidative Stress and Bioenergetics Disruption in the Neuropathology of Nonketotic Hyperglycinemia. <em>Neurotox Res<\/em> <strong>42<\/strong>, 32 (2024). https:\/\/doi.org\/10.1007\/s12640-024-00711-5<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/ccr3.70035\">Parviz, Samaneh, and Dariush Hooshyar. \u2018Neonatal Nonketotic Hyperglycinemia: A Severe Case With Prenatal Indicators and Comprehensive Review of Recognition and Management\u2019. <em>Clinical Case Reports<\/em>, vol. 13, no. 1, Jan. 2025, p. e70035. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1002\/ccr3.70035.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/epi4.13121\">Tokatly Latzer, Itay, and Phillip L. Pearl. \u2018Inherited Metabolic Epilepsies\u2013Established Diseases, New Approaches\u2019. <em>Epilepsia Open<\/em>, Dec. 2024, p. epi4.13121. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1002\/epi4.13121.<\/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. PMID: 39460617; PMCID: PMC11701590.<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\"><\/span>\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>\u30b0\u30ea\u30b7\u30f3\u8133\u75c7, \u975e\u30b1\u30c8\u30f3\u6027\u9ad8\u30b0\u30ea\u30b7\u30f3\u8840\u75c7, NKH, AMT\u907a\u4f1d\u5b50, GLDC, GCSH, DLD, T\u30bf\u30f3\u30d1\u30af\u8cea, \u30b0\u30ea\u30b7\u30f3\u958b\u88c2\u7cfb, \u907a\u4f1d\u6027\u4ee3\u8b1d\u7570\u5e38, NMDA\u53d7\u5bb9\u4f53, \u3051\u3044\u308c\u3093, \u65b0\u751f\u5150\u3066\u3093\u304b\u3093, \u30c7\u30ad\u30b9\u30c8\u30ed\u30e1\u30c8\u30eb\u30d5\u30a1\u30f3, \u30d9\u30f3\u30be\u30a8\u30fc\u30c8\u30ca\u30c8\u30ea\u30a6\u30e0, CSF\u30b0\u30ea\u30b7\u30f3, MRI, \u5148\u5929\u6027\u795e\u7d4c\u75be\u60a3, \u767a\u9054\u9045\u5ef6, \u907a\u4f1d\u5b50\u8a3a\u65ad<\/sup><\/sup><\/p>\n\n\n\n<!-- \u3042\u3044\u3046\u3048\u304a\u304b\u304d\u304f\u3051\u3053\u3055\u3057\u3059\u305b\u305d\u305f\u3061\u3064\u3066\u3068-->\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@graph\": [\n    {\n      \"@type\": \"WebPage\",\n      \"@id\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\",\n      \"url\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\",\n      \"name\": \"\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\u3068\u306f\uff1f\u539f\u56e0\u30fb\u75c7\u72b6\u30fb\u6cbb\u7642\u6cd5\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\",\n      \"inLanguage\": \"ja\",\n      \"description\": \"\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\uff08\u975e\u30b1\u30c8\u30f3\u6027\u9ad8\u30b0\u30ea\u30b7\u30f3\u8840\u75c7\uff09\u306f\u3001\u4f53\u5185\u306b\u30b0\u30ea\u30b7\u30f3\u304c\u904e\u5270\u306b\u84c4\u7a4d\u3055\u308c\u308b\u3053\u3068\u3067\u3001\u3051\u3044\u308c\u3093\u3001\u7b4b\u529b\u4f4e\u4e0b\u3001\u767a\u9054\u306e\u9045\u308c\u3092\u5f15\u304d\u8d77\u3053\u3059\u307e\u308c\u306a\u907a\u4f1d\u6027\u4ee3\u8b1d\u75be\u60a3\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u305d\u306e\u539f\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u3068\u4e88\u5f8c\u306b\u3064\u3044\u3066\u3084\u3055\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002\"\n    },\n    {\n      \"@type\": \"Article\",\n      \"mainEntityOfPage\": {\n        \"@id\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\"\n      },\n      \"headline\": \"\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\u3068\u306f\uff1f\u539f\u56e0\u30fb\u75c7\u72b6\u30fb\u6cbb\u7642\u6cd5\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\",\n      \"description\": \"\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\uff08\u975e\u30b1\u30c8\u30f3\u6027\u9ad8\u30b0\u30ea\u30b7\u30f3\u8840\u75c7\uff09\u306e\u539f\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u6cd5\u3001\u4e88\u5f8c\u306b\u3064\u3044\u3066\u3001\u5c02\u9580\u5bb6\u3068\u3054\u5bb6\u65cf\u306e\u53cc\u65b9\u306b\u5411\u3051\u3066\u3084\u3055\u3057\u304f\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002\",\n      \"datePublished\": \"2025-06-13\",\n      \"inLanguage\": \"ja\",\n      \"author\": {\n        \"@type\": \"Person\",\n        \"name\": \"HUMEDIT Contents Team\"\n      },\n      \"publisher\": {\n        \"@type\": \"Organization\",\n        \"name\": \"\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\",\n        \"url\": \"https:\/\/www.hiro-clinic.or.jp\"\n      }\n    },\n    {\n      \"@type\": \"MedicalCondition\",\n      \"name\": \"\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\uff08\u975e\u30b1\u30c8\u30f3\u6027\u9ad8\u30b0\u30ea\u30b7\u30f3\u8840\u75c7\uff09\",\n      \"alternateName\": \"Glycine Encephalopathy (Nonketotic Hyperglycinemia)\",\n      \"description\": \"\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\u306f\u3001\u30b0\u30ea\u30b7\u30f3\u3068\u3044\u3046\u30a2\u30df\u30ce\u9178\u304c\u904e\u5270\u306b\u305f\u307e\u308b\u3053\u3068\u3067\u3001\u795e\u7d4c\u7cfb\u306b\u6df1\u523b\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3059\u307e\u308c\u306a\u4ee3\u8b1d\u6027\u75be\u60a3\u3067\u3059\u3002\u4e3b\u306b\u65b0\u751f\u5150\u671f\u306b\u767a\u75c7\u3057\u3001\u3051\u3044\u308c\u3093\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u7121\u547c\u5438\u3001\u767a\u9054\u969c\u5bb3\u306a\u3069\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\",\n      \"cause\": {\n        \"@type\": \"MedicalCause\",\n        \"name\": \"AMT\u907a\u4f1d\u5b50\uff08aminomethyltransferase\uff09\u306e\u5909\u7570\u306b\u3088\u308b\u30b0\u30ea\u30b7\u30f3\u958b\u88c2\u7cfb\u306e\u6a5f\u80fd\u4e0d\u5168\"\n      },\n      \"possibleTreatment\": [\n        {\n          \"@type\": \"MedicalTherapy\",\n          \"name\": \"\u30d9\u30f3\u30be\u30a8\u30fc\u30c8\u30ca\u30c8\u30ea\u30a6\u30e0\u306b\u3088\u308b\u30b0\u30ea\u30b7\u30f3\u6392\u51fa\u4fc3\u9032\u7642\u6cd5\"\n        },\n        {\n          \"@type\": \"MedicalTherapy\",\n          \"name\": \"\u30c7\u30ad\u30b9\u30c8\u30ed\u30e1\u30c8\u30eb\u30d5\u30a1\u30f3\u306b\u3088\u308bNMDA\u53d7\u5bb9\u4f53\u306e\u6291\u5236\u7642\u6cd5\"\n        },\n        {\n          \"@type\": \"MedicalTherapy\",\n          \"name\": \"\u3051\u3044\u308c\u3093\u7ba1\u7406\u306e\u305f\u3081\u306e\u6297\u3066\u3093\u304b\u3093\u85ac\"\n        }\n      ],\n      \"symptom\": [\n        \"\u65b0\u751f\u5150\u3051\u3044\u308c\u3093\",\n        \"\u7b4b\u529b\u306e\u4f4e\u4e0b\uff08\u4f4e\u7dca\u5f35\uff09\",\n        \"\u55dc\u7720\u3084\u7121\u53cd\u5fdc\",\n        \"\u547c\u5438\u505c\u6b62\uff08\u7121\u547c\u5438\uff09\",\n        \"\u767a\u9054\u306e\u9045\u308c\",\n        \"\u6301\u7d9a\u7684\u306a\u3057\u3083\u3063\u304f\u308a\"\n      ]\n    }\n  ]\n}\n<\/script>\n","protected":false},"excerpt":{"rendered":"\u3084\u3055\u3057\u3044\u307e\u3068\u3081 This article&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":79,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[97],"tags":[],"class_list":["post-111663","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111663","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/79"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=111663"}],"version-history":[{"count":5,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111663\/revisions"}],"predecessor-version":[{"id":111957,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111663\/revisions\/111957"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=111663"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=111663"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=111663"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}