{"id":101282,"date":"2025-06-13T13:18:38","date_gmt":"2025-06-13T04:18:38","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=101282"},"modified":"2026-03-04T11:52:34","modified_gmt":"2026-03-04T02:52:34","slug":"metachromatic-leukodystrophy-arsa-overview","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\/","title":{"rendered":"\u30e1\u30bf\u30af\u30ed\u30de\u30c1\u30c3\u30af\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08\u30a2\u30ea\u30eb\u30b9\u30eb\u30d5\u30a1\u30bf\u30fc\u30bcA\u6b20\u640d\u75c7\uff09\u3010ARSA\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_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-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\/metachromatic-leukodystrophy-arsa-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\/metachromatic-leukodystrophy-arsa-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\/metachromatic-leukodystrophy-arsa-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\/metachromatic-leukodystrophy-arsa-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\/metachromatic-leukodystrophy-arsa-overview\/#%E7%97%85%E5%9B%A0_Etiology\" >\u75c5\u56e0 | Etiology<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\/#%E5%81%BDARSA%E6%AC%A0%E6%90%8D%E7%97%87%EF%BC%88Pseudodeficiency%EF%BC%89\" >\u507dARSA\u6b20\u640d\u75c7\uff08Pseudodeficiency\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-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-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\/#%E4%B8%BB%E3%81%AA%E5%85%B1%E9%80%9A%E7%97%87%E7%8A%B6\" >\u4e3b\u306a\u5171\u901a\u75c7\u72b6<\/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\/metachromatic-leukodystrophy-arsa-overview\/#%E3%82%B5%E3%83%96%E3%82%BF%E3%82%A4%E3%83%97%E3%81%94%E3%81%A8%E3%81%AE%E7%89%B9%E5%BE%B4\" >\u30b5\u30d6\u30bf\u30a4\u30d7\u3054\u3068\u306e\u7279\u5fb4<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\/#%E4%B9%B3%E5%85%90%E5%9E%8B%EF%BC%88Late-infantile_MLD%EF%BC%89\" >\u4e73\u5150\u578b\uff08Late-infantile MLD\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\/#%E5%B0%8F%E5%85%90%E5%9E%8B%EF%BC%88Juvenile_MLD%EF%BC%89\" >\u5c0f\u5150\u578b\uff08Juvenile MLD\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\/#%E6%88%90%E4%BA%BA%E5%9E%8B%EF%BC%88Adult_MLD%EF%BC%89\" >\u6210\u4eba\u578b\uff08Adult MLD\uff09<\/a><\/li><\/ul><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-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-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\/#%E9%85%B5%E7%B4%A0%E6%B4%BB%E6%80%A7%E6%B8%AC%E5%AE%9A\" >\u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a<\/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\/metachromatic-leukodystrophy-arsa-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-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\/#%E5%B0%BF%E6%A4%9C%E6%9F%BB\" >\u5c3f\u691c\u67fb<\/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\/metachromatic-leukodystrophy-arsa-overview\/#%E8%84%B3MRI\" >\u8133MRI<\/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\/metachromatic-leukodystrophy-arsa-overview\/#%E7%A5%9E%E7%B5%8C%E4%BC%9D%E5%B0%8E%E6%A4%9C%E6%9F%BB\" >\u795e\u7d4c\u4f1d\u5c0e\u691c\u67fb<\/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\/metachromatic-leukodystrophy-arsa-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-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\/#1_%E7%96%BE%E6%82%A3%E4%BF%AE%E9%A3%BE%E6%B2%BB%E7%99%82\" >1. \u75be\u60a3\u4fee\u98fe\u6cbb\u7642<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\/#%E2%96%A0_%E9%81%BA%E4%BC%9D%E5%AD%90%E6%B2%BB%E7%99%82%EF%BC%9AAtidarsagene_autotemcel%EF%BC%88Libmeldy%C2%AE%EF%BC%89\" >\u25a0 \u907a\u4f1d\u5b50\u6cbb\u7642\uff1aAtidarsagene autotemcel\uff08Libmeldy\u00ae\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\/#%E2%96%A0_%E5%90%8C%E7%A8%AE%E9%80%A0%E8%A1%80%E5%B9%B9%E7%B4%B0%E8%83%9E%E7%A7%BB%E6%A4%8D%EF%BC%88HSCT%EF%BC%89\" >\u25a0 \u540c\u7a2e\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\uff08HSCT\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\/#2_%E6%94%AF%E6%8F%B4%E7%9A%84%E3%82%B1%E3%82%A2%EF%BC%88%E5%AF%BE%E7%97%87%E7%99%82%E6%B3%95%EF%BC%89\" >2. \u652f\u63f4\u7684\u30b1\u30a2\uff08\u5bfe\u75c7\u7642\u6cd5\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-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-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-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-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-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>\u30e1\u30bf\u30af\u30ed\u30de\u30c1\u30c3\u30af\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08MLD\uff09\u306f\u3001\u4f53\u306e\u4e2d\u3067\u7279\u5b9a\u306e\u8102\u8cea\uff08\u30b9\u30eb\u30d5\u30a1\u30c1\u30c9\uff09\u304c\u5206\u89e3\u3067\u304d\u306a\u304f\u306a\u308b\u3053\u3068\u3067\u3001\u8133\u3084\u795e\u7d4c\u306b\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3001\u9032\u884c\u6027\u306e\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u3067\u3059\u3002\u4e3b\u306b\u5c0f\u3055\u306a\u5b50\u3069\u3082\u306b\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u5927\u4eba\u306b\u306a\u3063\u3066\u304b\u3089\u75c7\u72b6\u304c\u51fa\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n<p>\u3053\u306e\u30da\u30fc\u30b8\u3067\u306f\u3001MLD\u306e\u539f\u56e0\u3001\u3069\u3093\u306a\u75c7\u72b6\u304c\u51fa\u308b\u304b\u3001\u691c\u67fb\u3084\u6cbb\u7642\u6cd5\u3001\u75c5\u6c17\u306e\u9032\u307f\u65b9\u306a\u3069\u306b\u3064\u3044\u3066\u3001\u3067\u304d\u308b\u3060\u3051\u3084\u3055\u3057\u304f\u3001\u3066\u3044\u306d\u3044\u306b\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002\u304a\u5b50\u3055\u3093\u306e\u69d8\u5b50\u304c\u6c17\u306b\u306a\u308b\u3054\u5bb6\u65cf\u306e\u65b9\u3001\u8a3a\u65ad\u3092\u53d7\u3051\u3066\u60c5\u5831\u3092\u63a2\u3057\u3066\u3044\u308b\u65b9\u3001\u307e\u305f\u306f\u533b\u7642\u3084\u798f\u7949\u306b\u95a2\u308f\u308b\u65b9\u306b\u3068\u3063\u3066\u3082\u3001\u53c2\u8003\u306b\u306a\u308b\u5185\u5bb9\u3067\u3059\u3002<\/p>\n<p>\u3054\u81ea\u8eab\u3084\u3054\u5bb6\u65cf\u306e\u5065\u5eb7\u306b\u4e0d\u5b89\u3092\u611f\u3058\u305f\u3068\u304d\u306e\u300c\u6700\u521d\u306e\u4e00\u6b69\u300d\u3068\u3057\u3066\u3001\u304a\u8aad\u307f\u3044\u305f\u3060\u3051\u308c\u3070\u5e78\u3044\u3067\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>ARSA<\/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\/ARSA-hgtIdeo_genome_25a309_b9c6d0-1024x25.png\" alt=\"ARSA\" class=\"wp-image-101285\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>ARSA\u907a\u4f1d\u5b50\uff08Arylsulfatase A\uff0f\u30a2\u30ea\u30eb\u30b9\u30eb\u30d5\u30a1\u30bf\u30fc\u30bcA\uff09\u306f\u300122\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff0822q13.33\uff09\u306b\u5b58\u5728\u3057\u3001\u300c\u30e9\u30a4\u30bd\u30bd\u30fc\u30e0\uff08lysosome\uff0f\u7d30\u80de\u5185\u306e\u4e0d\u8981\u7269\u3092\u5206\u89e3\u3059\u308b\u5c0f\u5668\u5b98\uff09\u300d\u3067\u50cd\u304f\u9175\u7d20\u3001\u30a2\u30ea\u30eb\u30b9\u30eb\u30d5\u30a1\u30bf\u30fc\u30bcA\u306e\u751f\u6210\u306b\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9175\u7d20\u306f\u3001\u795e\u7d4c\u306e\u4fdd\u8b77\u819c\u3067\u3042\u308b\u30df\u30a8\u30ea\u30f3\uff08myelin\uff09\u306b\u591a\u304f\u542b\u307e\u308c\u308b\u300c\u30b9\u30eb\u30d5\u30a1\u30c1\u30c9\uff08sulfatide\uff09\u300d\u3068\u3044\u3046\u8102\u8cea\u3092\u5206\u89e3\u3059\u308b\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>ARSA\u907a\u4f1d\u5b50\u306b\u75c5\u7684\u306a\u5909\u7570\u304c2\u3064\uff08\u4e21\u89aa\u304b\u30891\u3064\u305a\u3064\uff09\u3042\u308b\u3068\u3001\u9175\u7d20\u306e\u6d3b\u6027\u304c\u6975\u7aef\u306b\u4f4e\u4e0b\u3057\u3001\u30b9\u30eb\u30d5\u30a1\u30c1\u30c9\u304c\u84c4\u7a4d\u3057\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u795e\u7d4c\u304c\u969c\u5bb3\u3092\u53d7\u3051\u3001\u30e1\u30bf\u30af\u30ed\u30de\u30c1\u30c3\u30af\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08MLD\uff09\u304c\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4ee5\u4e0b\u306f\u4ee3\u8868\u7684\u306aARSA\u5909\u7570\u306e\u4f8b\u3067\u3059<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>c.465+1G&gt;A\uff1a\u9175\u7d20\u6d3b\u6027\u304c\u5b8c\u5168\u306b\u5931\u308f\u308c\u308b\u300c0\u578b\u30a2\u30ec\u30eb\u300d\u3067\u3001\u4e73\u5150\u578bMLD\u306b\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>c.1283C&gt;T\uff08p.Pro428Leu\uff09\uff1a\u6210\u4eba\u578b\u3068\u306e\u95a2\u9023\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u308b\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u3002<\/li>\n\n\n\n<li>c.542T&gt;G\uff08p.Ile181Ser\uff09\uff1a\u4e00\u90e8\u306e\u9175\u7d20\u6d3b\u6027\u304c\u6b8b\u308b\u5909\u7570\u3067\u3001\u9032\u884c\u304c\u7de9\u3084\u304b\u306a\u75c7\u4f8b\u306b\u95a2\u9023\u3059\u308b\u3002<\/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>\u30e1\u30bf\u30af\u30ed\u30de\u30c1\u30c3\u30af\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08Metachromatic Leukodystrophy\uff1aMLD\uff09\u306f\u3001\u907a\u4f1d\u6027\u306e\u4ee3\u8b1d\u6027\u75be\u60a3\u3067\u3042\u308a\u3001ARSA\u9175\u7d20\u306e\u6b20\u640d\u306b\u3088\u3063\u3066\u795e\u7d4c\u7d30\u80de\u306e\u30df\u30a8\u30ea\u30f3\u304c\u7834\u58ca\u3055\u308c\u308b\u3053\u3068\u304b\u3089\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4ed6\u306e\u540d\u79f0\u3068\u3057\u3066\u306f\u4ee5\u4e0b\u304c\u7528\u3044\u3089\u308c\u307e\u3059<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30a2\u30ea\u30eb\u30b9\u30eb\u30d5\u30a1\u30bf\u30fc\u30bcA\u6b20\u640d\u75c7\uff08Arylsulfatase A Deficiency\uff09<\/li>\n\n\n\n<li>\u9045\u767a\u578b\u30fb\u4e73\u5150\u578b\u30fb\u6210\u4eba\u578bMLD<\/li>\n\n\n\n<li>\u507d\u30a2\u30ea\u30eb\u30b9\u30eb\u30d5\u30a1\u30bf\u30fc\u30bcA\u6b20\u640d\u75c7\uff08Pseudodeficiency\uff09<\/li>\n<\/ul>\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>MLD\u306f\u3001\u30b9\u30eb\u30d5\u30a1\u30c1\u30c9\u3068\u3044\u3046\u8102\u8cea\u304c\u795e\u7d4c\u7d30\u80de\u306b\u84c4\u7a4d\u3057\u3001\u8133\u3084\u672b\u68a2\u795e\u7d4c\u306e\u767d\u8cea\u304c\u7834\u58ca\u3055\u308c\u308b\u9032\u884c\u6027\u306e\u795e\u7d4c\u75be\u60a3\u3067\u3059\u3002\u75c5\u6c17\u306f\u5e74\u9f62\u306b\u3088\u3063\u3066\u4ee5\u4e0b\u306e3\u3064\u306e\u578b\u306b\u5206\u985e\u3055\u308c\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5150\u578b\uff08Late-infantile MLD\uff09\uff1a\u751f\u5f8c6\u304b\u6708\u301c2\u6b73\u534a\u306b\u767a\u75c7\u3002\u6700\u3082\u983b\u5ea6\u304c\u9ad8\u304f\u3001\u6025\u901f\u306b\u9032\u884c\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5c0f\u5150\u578b\uff08Juvenile MLD\uff09\uff1a2\u6b73\u534a\u301c16\u6b73\u306b\u767a\u75c7\u3002\u75c7\u72b6\u306e\u51fa\u65b9\u3084\u9032\u884c\u901f\u5ea6\u306b\u5e45\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6210\u4eba\u578b\uff08Adult MLD\uff09\uff1a16\u6b73\u4ee5\u964d\u306b\u767a\u75c7\u3002\u9032\u884c\u306f\u7de9\u3084\u304b\u3067\u3059\u304c\u3001\u7cbe\u795e\u7684\u306a\u75c7\u72b6\u304c\u76ee\u7acb\u3064\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n    <a href=\"\/nipt\/roberts-syndrome-esco2-overview\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\uff08ESCO2\u95a2\u9023\u30b3\u30d2\u30fc\u30b7\u30ce\u30d1\u30c1\u30fc\uff09\u3010ESCO2\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u624b\u8db3\u306e\u77ed\u7e2e\u3084\u6210\u9577\u306e\u9045\u308c\u3092\u7279\u5fb4\u3068\u3059\u308b\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u3002\u539f\u56e0\u3068\u306a\u308bESCO2\u907a\u4f1d\u5b50\u3084\u8a3a\u65ad\u30fb\u6cbb\u7642\u306e\u30dd\u30a4\u30f3\u30c8\u3092\u3084\u3055\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af...<\/div>\n      <\/div>\n    <\/a>\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>MLD\u306f\u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u51fa\u751f\u6642\u306e\u6709\u75c5\u7387\u306f\u5730\u57df\u3054\u3068\u306b\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e16\u754c\u5168\u4f53\uff1a1\uff0f40,000\u301c1\uff0f160,000\u51fa\u751f<\/li>\n\n\n\n<li>\u30dd\u30eb\u30c8\u30ac\u30eb\uff1a1.85\uff0f100,000\uff08\u4e73\u5150\u578b\uff1a1.12\u3001\u5c0f\u5150\u578b\uff1a0.29\u3001\u6210\u4eba\u578b\uff1a0.45\uff09<\/li>\n\n\n\n<li>\u30b9\u30a6\u30a7\u30fc\u30c7\u30f3\uff1a1.73\uff0f100,000<\/li>\n\n\n\n<li>\u65e5\u672c\uff1a0.16\uff0f100,000\uff08\u5831\u544a\u4e0d\u8db3\u306e\u53ef\u80fd\u6027\u3042\u308a\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u307e\u305f\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u6c11\u65cf\u96c6\u56e3\u3067\u306f\u6709\u75c5\u7387\u304c\u7279\u306b\u9ad8\u304f\u306a\u3063\u3066\u3044\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30ca\u30d0\u30db\uff08\u7c73\u56fd\uff09\uff1a1\uff0f2,500<\/li>\n\n\n\n<li>\u30a2\u30e9\u30b9\u30ab\u30fb\u30e6\u30d4\u30c3\u30af\uff1a1\uff0f2,500<\/li>\n\n\n\n<li>\u30a4\u30b9\u30e9\u30a8\u30eb\u30fb\u30a2\u30e9\u30d6\u4eba\uff1a1\uff0f8,000<\/li>\n<\/ul>\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>MLD\u306f\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u3059\u306a\u308f\u3061\u3001\u4e21\u89aa\u304b\u30891\u3064\u305a\u3064\u7570\u5e38\u306aARSA\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3044\u3060\u5834\u5408\u306b\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u7a00\u306bPSAP\u907a\u4f1d\u5b50\uff08\u30d7\u30ed\u30b5\u30dd\u30b7\u30f3\uff09\u306e\u5909\u7570\u306b\u3088\u308a\u3001\u300c\u30b5\u30dd\u30b7\u30f3B\uff08saposin B\uff09\u300d\u3068\u3044\u3046ARSA\u9175\u7d20\u306e\u88dc\u52a9\u56e0\u5b50\u304c\u6a5f\u80fd\u3057\u306a\u304f\u306a\u308b\u3053\u3068\u3067MLD\u3092\u767a\u75c7\u3059\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%81%BDARSA%E6%AC%A0%E6%90%8D%E7%97%87%EF%BC%88Pseudodeficiency%EF%BC%89\"><\/span>\u507dARSA\u6b20\u640d\u75c7\uff08Pseudodeficiency\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e00\u90e8\u306e\u4eba\u306fARSA\u6d3b\u6027\u304c\u901a\u5e38\u3088\u308a\u4f4e\u3044\u3082\u306e\u306e\u3001\u75c7\u72b6\u304c\u51fa\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3088\u304f\u898b\u3089\u308c\u308b\u507d\u6b20\u640d\u30a2\u30ec\u30eb\uff1ap.Asn352Ser\uff08c.1055A&gt;G\uff09, c.96A&gt;G<\/li>\n\n\n\n<li>\u4e16\u754c\u4e2d\u306730\u301c35%\u306e\u4eba\u304c\u3053\u308c\u3089\u306e\u30a2\u30ec\u30eb\u3092\u4fdd\u6709\u3057\u3066\u3044\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u306e\u305f\u3081\u3001\u9175\u7d20\u6d3b\u6027\u691c\u67fb\u3060\u3051\u3067\u306f\u78ba\u5b9a\u8a3a\u65ad\u306f\u3067\u304d\u305a\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3068\u306e\u4f75\u7528\u304c\u5fc5\u9808\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<p>MLD\u306e\u75c7\u72b6\u306f\u3001\u767a\u75c7\u5e74\u9f62\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u3044\u305a\u308c\u3082\u904b\u52d5\u6a5f\u80fd\u30fb\u8a8d\u77e5\u6a5f\u80fd\u306e\u9032\u884c\u6027\u306e\u4f4e\u4e0b\u3092\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E5%85%B1%E9%80%9A%E7%97%87%E7%8A%B6\"><\/span>\u4e3b\u306a\u5171\u901a\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6b69\u884c\u56f0\u96e3\u3001\u3064\u307e\u305a\u304d\u3084\u3059\u3055\u3001\u7b4b\u529b\u4f4e\u4e0b<\/li>\n\n\n\n<li>\u8a00\u8449\u3092\u5fd8\u308c\u308b\u3001\u8a71\u305b\u306a\u304f\u306a\u308b<\/li>\n\n\n\n<li>\u8996\u899a\u30fb\u8074\u899a\u969c\u5bb3\uff08\u8996\u529b\u4f4e\u4e0b\u3001\u96e3\u8074\u3001\u5931\u660e\uff09<\/li>\n\n\n\n<li>\u611f\u899a\u920d\u9ebb\u3001\u672b\u68a2\u795e\u7d4c\u969c\u5bb3<\/li>\n\n\n\n<li>\u767a\u4f5c\uff08\u3066\u3093\u304b\u3093\uff09<\/li>\n\n\n\n<li>\u98f2\u307f\u8fbc\u307f\u306b\u304f\u3055\u3001\u8aa4\u56a5\u3001\u8aa4\u56a5\u6027\u80ba\u708e<\/li>\n\n\n\n<li>\u6392\u6cc4\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u306e\u55aa\u5931\uff08\u5931\u7981\uff09<\/li>\n\n\n\n<li>\u7121\u53cd\u5fdc\u3001\u660f\u8ff7\u72b6\u614b<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%B5%E3%83%96%E3%82%BF%E3%82%A4%E3%83%97%E3%81%94%E3%81%A8%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span>\u30b5\u30d6\u30bf\u30a4\u30d7\u3054\u3068\u306e\u7279\u5fb4<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B9%B3%E5%85%90%E5%9E%8B%EF%BC%88Late-infantile_MLD%EF%BC%89\"><\/span>\u4e73\u5150\u578b\uff08Late-infantile MLD\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u75c7\uff1a\u751f\u5f8c6\u304b\u6708\u301c2.5\u6b73<\/li>\n\n\n\n<li>\u6700\u521d\u306f\u6b63\u5e38\u306a\u767a\u9054 \u2192 \u6025\u901f\u306a\u9000\u884c<\/li>\n\n\n\n<li>\u6b69\u3051\u3066\u3044\u305f\u5b50\u304c\u6b69\u3051\u306a\u304f\u306a\u308b\u3001\u8a71\u3055\u306a\u304f\u306a\u308b<\/li>\n\n\n\n<li>\u7b4b\u7dca\u5f35\u306e\u5909\u5316\uff08\u4f4e\u4e0b\u304b\u3089\u786c\u76f4\u3078\uff09\u3001\u3051\u3044\u308c\u3093\u3001\u8aa4\u56a5<\/li>\n\n\n\n<li>\u767a\u75c7\u304b\u30895\u301c6\u5e74\u3067\u306e\u6b7b\u4ea1\u304c\u591a\u3044<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B0%8F%E5%85%90%E5%9E%8B%EF%BC%88Juvenile_MLD%EF%BC%89\"><\/span>\u5c0f\u5150\u578b\uff08Juvenile MLD\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u75c7\uff1a2.5\u6b73\u301c16\u6b73<\/li>\n\n\n\n<li>\u521d\u671f\u306b\u306f\u300c\u5b66\u6821\u3067\u306e\u6210\u7e3e\u4f4e\u4e0b\u300d\u300c\u96c6\u4e2d\u529b\u306e\u4f4e\u4e0b\u300d\u300c\u4e0d\u5b89\u5b9a\u306a\u884c\u52d5\u300d\u306a\u3069\u304c\u898b\u3089\u308c\u308b<\/li>\n\n\n\n<li>\u305d\u306e\u5f8c\u3001\u6b69\u884c\u969c\u5bb3\u3001\u767a\u4f5c\u3001\u8a8d\u77e5\u6a5f\u80fd\u306e\u9000\u884c\u3078\u9032\u884c<\/li>\n\n\n\n<li>\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u304c\u3001\u591a\u304f\u306f20\u6b73\u524d\u5f8c\u307e\u3067\u306b\u6df1\u523b\u306a\u969c\u5bb3\u306b\u81f3\u308b<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%88%90%E4%BA%BA%E5%9E%8B%EF%BC%88Adult_MLD%EF%BC%89\"><\/span>\u6210\u4eba\u578b\uff08Adult MLD\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u75c7\uff1a16\u6b73\u4ee5\u964d<\/li>\n\n\n\n<li>\u6700\u521d\u306b\u7cbe\u795e\u75c7\u72b6\uff08\u3046\u3064\u75c5\u3001\u5e7b\u899a\u3001\u8a18\u61b6\u969c\u5bb3\u306a\u3069\uff09\u304b\u3089\u59cb\u307e\u308b\u3053\u3068\u304c\u591a\u3044<\/li>\n\n\n\n<li>\u6570\u5341\u5e74\u306b\u308f\u305f\u308b\u3086\u308b\u3084\u304b\u306a\u9032\u884c<\/li>\n\n\n\n<li>\u6700\u7d42\u7684\u306b\u306f\u6b69\u884c\u969c\u5bb3\u3001\u5931\u8a9e\u3001\u8a8d\u77e5\u75c7\u72b6\u304c\u91cd\u5ea6\u306b\u9032\u884c<\/li>\n<\/ul>\n\n\n\n    <a href=\"\/nipt\/atp6v1b1-related-rta-hearing-loss\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">ATP6V1B1\u95a2\u9023 \u9060\u4f4d\u578b\u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3068\u611f\u97f3\u6027\u96e3\u8074 <\/div>\n          <div class=\"blog-card-excerpt\">ATP6V1B1\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u3001\u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3068\u611f\u97f3\u6027\u96e3\u8074\u306b\u3064\u3044\u3066\u89e3\u8aac\u3002\u75c7\u72b6\u3084\u8a3a\u65ad\u3001\u6cbb\u7642\u6cd5\u3092\u3084\u3055\u3057\u304f\u7d39\u4ecb\u3057\u307e\u3059\uff5c\u30d2\u30ed\u30af...<\/div>\n      <\/div>\n    <\/a>\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=\"%E9%85%B5%E7%B4%A0%E6%B4%BB%E6%80%A7%E6%B8%AC%E5%AE%9A\"><\/span>\u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767d\u8840\u7403\u3084\u76ae\u819a\u7dda\u7dad\u82bd\u7d30\u80de\u306b\u304a\u3051\u308bARSA\u6d3b\u6027\u304c10\uff05\u672a\u6e80\u306e\u5834\u5408\u3001\u5f37\u3044\u7591\u3044\u3002<\/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>ARSA\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306e\u540c\u5b9a\u304c\u78ba\u5b9a\u8a3a\u65ad\u306e\u9375<\/li>\n\n\n\n<li>\u507d\u6b20\u640d\u30a2\u30ec\u30eb\u3068\u306e\u9451\u5225\u304c\u4e0d\u53ef\u6b20<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B0%BF%E6%A4%9C%E6%9F%BB\"><\/span>\u5c3f\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30b9\u30eb\u30d5\u30a1\u30c1\u30c9\u306e\u6392\u6cc4\u91cf\u306e\u5897\u52a0\u3092\u78ba\u8a8d<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%84%B3MRI\"><\/span>\u8133MRI<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767d\u8cea\u306e\u8131\u9ac4\u306b\u3088\u308bT2\u5f37\u8abf\u753b\u50cf\u3067\u306e\u9ad8\u4fe1\u53f7\uff08\u5de6\u53f3\u5bfe\u79f0\uff09<\/li>\n\n\n\n<li>\u30bf\u30a4\u30b0\u30ed\u30a4\u30c9\u6a21\u69d8\uff08tigroid pattern\uff09\u3001Loes\u30b9\u30b3\u30a2\u3067\u9032\u884c\u8a55\u4fa1<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A5%9E%E7%B5%8C%E4%BC%9D%E5%B0%8E%E6%A4%9C%E6%9F%BB\"><\/span>\u795e\u7d4c\u4f1d\u5c0e\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u904b\u52d5\u30fb\u611f\u899a\u795e\u7d4c\u306e\u4f1d\u5c0e\u901f\u5ea6\u304c\u4f4e\u4e0b<\/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<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E7%96%BE%E6%82%A3%E4%BF%AE%E9%A3%BE%E6%B2%BB%E7%99%82\"><\/span>1. \u75be\u60a3\u4fee\u98fe\u6cbb\u7642<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%96%A0_%E9%81%BA%E4%BC%9D%E5%AD%90%E6%B2%BB%E7%99%82%EF%BC%9AAtidarsagene_autotemcel%EF%BC%88Libmeldy%C2%AE%EF%BC%89\"><\/span>\u25a0 \u907a\u4f1d\u5b50\u6cbb\u7642\uff1aAtidarsagene autotemcel\uff08Libmeldy\u00ae\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u81ea\u5bb6\u9020\u8840\u5e79\u7d30\u80de\u306b\u6a5f\u80fd\u6027ARSA\u907a\u4f1d\u5b50\u3092\u5c0e\u5165<\/li>\n\n\n\n<li>\u9069\u5fdc\uff1a\u7121\u75c7\u72b6\u307e\u305f\u306f\u521d\u671f\u306e\u4e73\u5150\u578b\u30fb\u5c0f\u5150\u578b<\/li>\n\n\n\n<li>\u6b27\u5dde\u3001\u7c73\u56fd\u306a\u3069\u3067\u627f\u8a8d\u6e08\u307f<\/li>\n\n\n\n<li>\u6cbb\u7642\u306b\u3088\u308a\u904b\u52d5\u30fb\u8a8d\u77e5\u6a5f\u80fd\u306e\u4fdd\u6301\u3001\u751f\u5b58\u671f\u9593\u5ef6\u9577\u304c\u671f\u5f85\u3055\u308c\u308b<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%96%A0_%E5%90%8C%E7%A8%AE%E9%80%A0%E8%A1%80%E5%B9%B9%E7%B4%B0%E8%83%9E%E7%A7%BB%E6%A4%8D%EF%BC%88HSCT%EF%BC%89\"><\/span>\u25a0 \u540c\u7a2e\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\uff08HSCT\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9069\u5fdc\uff1a\u767a\u75c7\u524d\u307e\u305f\u306f\u8efd\u5ea6\u75c7\u72b6\u306e\u5c0f\u5150\u578b\u30fb\u6210\u4eba\u578b<\/li>\n\n\n\n<li>\u30ea\u30b9\u30af\uff1aGVHD\u3001\u611f\u67d3\u75c7\u3001\u79fb\u690d\u95a2\u9023\u6b7b\u4ea1<\/li>\n\n\n\n<li>\u4e73\u5150\u578b\u306e\u9032\u884c\u306b\u306f\u5bfe\u5fdc\u3057\u304d\u308c\u306a\u3044\u3053\u3068\u304c\u591a\u3044<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E6%94%AF%E6%8F%B4%E7%9A%84%E3%82%B1%E3%82%A2%EF%BC%88%E5%AF%BE%E7%97%87%E7%99%82%E6%B3%95%EF%BC%89\"><\/span>2. \u652f\u63f4\u7684\u30b1\u30a2\uff08\u5bfe\u75c7\u7642\u6cd5\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\uff08PT\/OT\uff09<\/li>\n\n\n\n<li>\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u767a\u4f5c\u7ba1\u7406<\/li>\n\n\n\n<li>\u98f2\u307f\u8fbc\u307f\u8a13\u7df4\u3001\u80c3\u308d\u3046\u9020\u8a2d\u306a\u3069\u306b\u3088\u308b\u6804\u990a\u30b5\u30dd\u30fc\u30c8<\/li>\n\n\n\n<li>\u8996\u529b\u30fb\u8074\u529b\u30b1\u30a2\u3001\u6559\u80b2\u7684\u652f\u63f4\u3001\u7cbe\u795e\u79d1\u7684\u4ecb\u5165<\/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>\u4e73\u5150\u578b\uff1a\u6025\u901f\u306b\u9032\u884c\u3057\u3001\u6b7b\u4ea1\u306f\u591a\u304f\u306e\u5834\u54085\u301c6\u6b73<\/li>\n\n\n\n<li>\u5c0f\u5150\u578b\uff1a\u7de9\u5f90\u306b\u9032\u884c\u3059\u308b\u3053\u3068\u3082\u3042\u308b\u304c\u3001\u591a\u304f\u306f\u6210\u4eba\u524d\u306b\u91cd\u5ea6\u306e\u969c\u5bb3<\/li>\n\n\n\n<li>\u6210\u4eba\u578b\uff1a\u9032\u884c\u306f\u7de9\u3084\u304b\u3067\u3001\u751f\u5b58\u671f\u9593\u306f\u9577\u3044\u304c\u3001\u8a8d\u77e5\u30fb\u904b\u52d5\u6a5f\u80fd\u306f\u6700\u7d42\u7684\u306b\u8457\u3057\u304f\u4f4e\u4e0b<\/li>\n<\/ul>\n\n\n\n<p>\u907a\u4f1d\u5b50\u6cbb\u7642\u304c\u9069\u5207\u306a\u6642\u671f\u306b\u884c\u308f\u308c\u308c\u3070\u3001\u9577\u671f\u7684\u306a\u4e88\u5f8c\u6539\u5584\u304c\u53ef\u80fd\u306a\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\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\/sites\/books\/NBK1130\/\">Gomez-Ospina N. Arylsulfatase A Deficiency. 2006 May 30 [Updated 2024 Apr 25]. 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\/sites\/books\/NBK1130\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK560744\/\">Lamichhane A, Rocha Cabrero F. Metachromatic Leukodystrophy. [Updated 2023 Jul 17]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK560744\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s13023-023-02814-2\">Armstrong, N., Olaye, A., Noake, C. <em>et al.<\/em> A systematic review of clinical effectiveness and safety for historical and current treatment options for metachromatic leukodystrophy in children, including atidarsagene autotemcel. <em>Orphanet J Rare Dis<\/em> <strong>18<\/strong>, 248 (2023). https:\/\/doi.org\/10.1186\/s13023-023-02814-2<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.jcyt.2024.03.487\">Adang, Laura A., et al. \u2018Consensus Guidelines for the Monitoring and Management of Metachromatic Leukodystrophy in the United States\u2019. <em>Cytotherapy<\/em>, vol. 26, no. 7, July 2024, pp. 739\u201348. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1016\/j.jcyt.2024.03.487.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s13023-024-03044-w\">Chang, SC., Bergamasco, A., Bonnin, M. <em>et al.<\/em> A systematic review on the birth prevalence of metachromatic leukodystrophy. <em>Orphanet J Rare Dis<\/em> <strong>19<\/strong>, 80 (2024). https:\/\/doi.org\/10.1186\/s13023-024-03044-w<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ejpn.2023.06.005\">Jonckheere, An I., et al. \u2018Metachromatic Leukodystrophy: To Screen or Not to Screen?\u2019 <em>European Journal of Paediatric Neurology<\/em>, vol. 46, Sept. 2023, pp. 1\u20137. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1016\/j.ejpn.2023.06.005.<\/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>\u30e1\u30bf\u30af\u30ed\u30de\u30c1\u30c3\u30af\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc, MLD, \u30a2\u30ea\u30eb\u30b9\u30eb\u30d5\u30a1\u30bf\u30fc\u30bcA, ARSA, \u30b9\u30eb\u30d5\u30a1\u30c1\u30c9, \u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc, \u907a\u4f1d\u5b50\u6cbb\u7642, Libmeldy, \u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d, \u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0, \u30df\u30a8\u30ea\u30f3, \u7cbe\u795e\u75c7\u72b6, PSAP, \u30b5\u30dd\u30b7\u30f3B, ARSA\u5909\u7570, \u507d\u6b20\u640d\u30a2\u30ec\u30eb, \u30aa\u30fc\u30d5\u30a1\u30f3\u30c7\u30a3\u30b8\u30fc\u30ba<\/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  \"@type\": \"WebPage\",\n  \"mainEntity\": {\n    \"@type\": \"MedicalCondition\",\n    \"name\": \"\u30e1\u30bf\u30af\u30ed\u30de\u30c1\u30c3\u30af\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08MLD\uff09\",\n    \"alternateName\": \"Arylsulfatase A Deficiency\",\n    \"description\": \"\u30e1\u30bf\u30af\u30ed\u30de\u30c1\u30c3\u30af\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08MLD\uff09\u306f\u3001ARSA\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u30b9\u30eb\u30d5\u30a1\u30c1\u30c9\u304c\u84c4\u7a4d\u3057\u3001\u4e2d\u67a2\u304a\u3088\u3073\u672b\u68a2\u795e\u7d4c\u306e\u767d\u8cea\u304c\u7834\u58ca\u3055\u308c\u308b\u9032\u884c\u6027\u306e\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u4e73\u5150\u3001\u5c0f\u5150\u3001\u6210\u4eba\u578b\u306b\u5206\u3051\u3089\u308c\u3001\u904b\u52d5\u6a5f\u80fd\u3084\u8a8d\u77e5\u6a5f\u80fd\u304c\u5f90\u3005\u306b\u4f4e\u4e0b\u3057\u307e\u3059\u3002\",\n    \"cause\": {\n      \"@type\": \"MedicalCause\",\n      \"name\": \"ARSA\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u30a2\u30ea\u30eb\u30b9\u30eb\u30d5\u30a1\u30bf\u30fc\u30bcA\u9175\u7d20\u6d3b\u6027\u306e\u4f4e\u4e0b\u307e\u305f\u306f\u6d88\u5931\"\n    },\n    \"possibleTreatment\": [\n      {\n        \"@type\": \"MedicalTherapy\",\n        \"name\": \"\u907a\u4f1d\u5b50\u6cbb\u7642\uff08atidarsagene autotemcel\uff0fLibmeldy\uff09\"\n      },\n      {\n        \"@type\": \"MedicalTherapy\",\n        \"name\": \"\u540c\u7a2e\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\uff08HSCT\uff09\"\n      },\n      {\n        \"@type\": \"MedicalTherapy\",\n        \"name\": \"\u5bfe\u75c7\u7642\u6cd5\u304a\u3088\u3073\u652f\u63f4\u7684\u30b1\u30a2\uff08\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3001\u6804\u990a\u7ba1\u7406\u306a\u3069\uff09\"\n      }\n    ],\n    \"signOrSymptom\": [\n      {\n        \"@type\": \"MedicalSymptom\",\n        \"name\": \"\u6b69\u884c\u969c\u5bb3\u3001\u7b4b\u529b\u4f4e\u4e0b\u3001\u75d9\u7e2e\"\n      },\n      {\n        \"@type\": \"MedicalSymptom\",\n        \"name\": \"\u8a00\u8a9e\u30fb\u8a8d\u77e5\u6a5f\u80fd\u306e\u9000\u884c\"\n      },\n      {\n        \"@type\": \"MedicalSymptom\",\n        \"name\": \"\u8996\u899a\u30fb\u8074\u899a\u969c\u5bb3\u3001\u767a\u4f5c\u3001\u8aa4\u56a5\"\n      }\n    ],\n    \"affectedSystem\": \"\u795e\u7d4c\u7cfb\"\n  },\n  \"headline\": \"\u30e1\u30bf\u30af\u30ed\u30de\u30c1\u30c3\u30af\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08MLD\uff09\u3068\u306f\uff1f\u539f\u56e0\u30fb\u75c7\u72b6\u30fb\u6cbb\u7642\u3092\u3084\u3055\u3057\u304f\u89e3\u8aac\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\",\n  \"description\": \"\u30e1\u30bf\u30af\u30ed\u30de\u30c1\u30c3\u30af\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08MLD\uff09\u306f\u3001\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3001\u795e\u7d4c\u306e\u30df\u30a8\u30ea\u30f3\u304c\u640d\u50b7\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u3001\u904b\u52d5\u3084\u8a8d\u77e5\u6a5f\u80fd\u304c\u4f4e\u4e0b\u3057\u3066\u3044\u304f\u75c5\u6c17\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u539f\u56e0\u30fb\u75c7\u72b6\u30fb\u691c\u67fb\u30fb\u6cbb\u7642\u6cd5\u3092\u3001\u533b\u7642\u8005\u3068\u3054\u5bb6\u65cf\u306e\u4e21\u65b9\u306b\u5411\u3051\u3066\u308f\u304b\u308a\u3084\u3059\u304f\u3054\u7d39\u4ecb\u3057\u307e\u3059\u3002\",\n  \"url\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\",\n  \"inLanguage\": \"ja\",\n  \"datePublished\": \"2025-06-13\",\n  \"author\": {\n    \"@type\": \"Person\",\n    \"name\": \"HUMEDIT Contents Team\"\n  },\n  \"@id\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview#article\",\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<\/script>\n","protected":false},"excerpt":{"rendered":"\u3084\u3055\u3057\u3044\u307e\u3068\u3081 \u30e1\u30bf\u30af\u30ed\u30de\u30c1\u30c3\u30af\u767d\u8cea\u30b8\u30b9&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\/\">\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":[71],"tags":[],"class_list":["post-101282","post","type-post","status-publish","format-standard","hentry","category-treatise"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/101282","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=101282"}],"version-history":[{"count":12,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/101282\/revisions"}],"predecessor-version":[{"id":125353,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/101282\/revisions\/125353"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=101282"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=101282"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=101282"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}