{"id":60318,"date":"2023-08-25T10:30:31","date_gmt":"2023-08-25T01:30:31","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=60318"},"modified":"2026-05-08T13:36:38","modified_gmt":"2026-05-08T04:36:38","slug":"adrenoleukodystrophy","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/adrenoleukodystrophy\/","title":{"rendered":"\u526f\u814e\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc"},"content":{"rendered":"\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><sup>X\u9023\u9396\u6027\u526f\u814e\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08X-ALD\uff09\u306f\u3001ABCD1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3059\u308b\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u75be\u60a3\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001X-ALD\u306e\u767a\u75c7\u30e1\u30ab\u30cb\u30ba\u30e0\u3001\u81e8\u5e8a\u8868\u73fe\u578b\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6700\u65b0\u306e\u6cbb\u7642\u6cd5\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002\u65e9\u671f\u767a\u898b\u3068\u9069\u5207\u306a\u6cbb\u7642\u306e\u91cd\u8981\u6027\u3092\u7406\u89e3\u3057\u3001\u6700\u65b0\u306e\u7814\u7a76\u52d5\u5411\u3092\u77e5\u308b\u305f\u3081\u306e\u5fc5\u8aad\u306e\u5185\u5bb9\u3067\u3059\u3002<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>ABCD1\uff5cAdrenoleukodystrophy, X-Linked<\/p>\n\n\n\n<p><a href=\"https:\/\/adrenoleukodystrophy.info\/\">\u2606\u526f\u814e\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306e\u3042\u3089\u3086\u308b\u5074\u9762\u306b\u95a2\u3059\u308b\u60c5\u5831\u30d7\u30e9\u30c3\u30c8\u30d5\u30a9\u30fc\u30e0\u3068ABCD1\u5909\u7570\u4f53\u306e\u4e16\u754c\u7684\u306a\u30ec\u30b8\u30b9\u30c8\u30ea<\/a><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>X\u9023\u9396\u6027\u526f\u814e\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08X-linked adrenoleukodystrophy, X-ALD\uff09\u306f\u3001ABCD1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u75be\u60a3\u3067\u3042\u308b\u3002\u672c\u75be\u60a3\u3067\u306f\u3001\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u819c\u4e0a\u306b\u767a\u73fe\u3059\u308bATP\u7d50\u5408\u30ab\u30bb\u30c3\u30c8\u8f38\u9001\u4f53\uff08ABCD1\uff09\u304c\u6a5f\u80fd\u4e0d\u5168\u306b\u9665\u308a\u3001\u6975\u9577\u9396\u8102\u80aa\u9178\uff08VLCFA\uff09\u306e\u03b2\u9178\u5316\u304c\u969c\u5bb3\u3055\u308c\u308b\u3002\u305d\u306e\u7d50\u679c\u3001VLCFA\u304c\u8840\u6db2\u304a\u3088\u3073\u4e2d\u67a2\u795e\u7d4c\u7cfb\u3001\u672b\u68a2\u795e\u7d4c\u7cfb\u3001\u526f\u814e\u76ae\u8cea\u306b\u84c4\u7a4d\u3057\u3001\u795e\u7d4c\u5909\u6027\u3084\u5185\u5206\u6ccc\u6a5f\u80fd\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3002X-ALD\u306f\u3001\u5150\u7ae5\u671f\u3001\u9752\u5e74\u671f\u3001\u6210\u4eba\u671f\u306b\u767a\u75c7\u3059\u308b\u8133\u578bALD\uff08CALD\uff09\u3001\u810a\u9ac4\u795e\u7d4c\u969c\u5bb3\u3092\u4e3b\u4f53\u3068\u3059\u308b\u526f\u814e\u810a\u9ac4\u30cb\u30e5\u30fc\u30ed\u30d1\u30c1\u30fc\uff08AMN\uff09\u3001\u304a\u3088\u3073\u526f\u814e\u6a5f\u80fd\u4e0d\u5168\uff08\u30a2\u30b8\u30bd\u30f3\u75c5\u578b\uff09\u306e\u591a\u69d8\u306a\u81e8\u5e8a\u8868\u73fe\u578b\u3092\u793a\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u6975\u3081\u3066\u7570\u8cea\u6027\u304c\u9ad8\u304f\u3001\u540c\u3058\u907a\u4f1d\u5b50\u5909\u7570\u3092\u6301\u3064\u60a3\u8005\u3067\u3082\u7570\u306a\u308b\u8868\u73fe\u578b\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308b\u3002\u305d\u306e\u305f\u3081\u3001\u52b9\u679c\u7684\u306a\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u306b\u306f\u3001\u75be\u60a3\u306e\u75c5\u614b\u751f\u7406\u3092\u3088\u308a\u6df1\u304f\u7406\u89e3\u3059\u308b\u5fc5\u8981\u304c\u3042\u308b\u3002\u73fe\u5728\u306e\u6cbb\u7642\u6cd5\u306b\u306f\u3001\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\uff08HSCT\uff09\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\u3001\u526f\u814e\u30db\u30eb\u30e2\u30f3\u88dc\u5145\u7642\u6cd5\u3001\u6297\u9178\u5316\u7642\u6cd5\u3001\u98df\u4e8b\u7642\u6cd5\u306a\u3069\u304c\u3042\u308b\u304c\u3001\u3044\u305a\u308c\u3082\u75be\u60a3\u306e\u9032\u884c\u3092\u5b8c\u5168\u306b\u6291\u3048\u308b\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u3055\u3089\u306a\u308b\u7814\u7a76\u304c\u6c42\u3081\u3089\u308c\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>X-ALD\u306e\u6709\u75c5\u7387\u306f\u3001\u5f93\u6765\u306e\u63a8\u5b9a\u3067\u306f\u7537\u6027\u306e\u7d041\/20,000\u3068\u3055\u308c\u3066\u304d\u305f\u304c\u3001\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u5c0e\u5165\u306b\u3088\u308a\u3001\u7c73\u56fd\u3067\u306f1\/10,500\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002\u5973\u6027\u4fdd\u56e0\u8005\u306e\u591a\u304f\u306f\u75c7\u72b6\u3092\u793a\u3055\u306a\u3044\u304c\u300150\u6b73\u4ee5\u964d\u306b\u8efd\u5ea6\u306e\u810a\u9ac4\u75c7\u72b6\u3092\u5448\u3059\u308b\u5834\u5408\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306fX\u9023\u9396\u6027\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308b\u305f\u3081\u3001\u7537\u6027\u60a3\u8005\u306f\u5909\u7570\u3092\u53d7\u3051\u7d99\u3050\u3068\u767a\u75c7\u3057\u3001\u5973\u6027\u306f\u4fdd\u56e0\u8005\u3068\u306a\u308b\u3002\u4fdd\u56e0\u8005\u306e\u5973\u6027\u304c\u5b50\u3092\u6301\u3064\u5834\u5408\u3001\u5b50\u4f9b\u304c\u5909\u7570\u3092\u53d7\u3051\u7d99\u3050\u78ba\u7387\u306f50%\u3067\u3042\u308b\u3002\u3055\u3089\u306b\u3001X-ALD\u60a3\u8005\u306e\u7d0419%\u306f de novo \u5909\u7570\u306b\u3088\u308b\u767a\u75c7\u3067\u3042\u308a\u3001\u5bb6\u65cf\u6b74\u304c\u306a\u3044\u5834\u5408\u3067\u3082\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>X-ALD\u306f\u3001X\u67d3\u8272\u4f53\u4e0a\u306eXq28\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308bABCD1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f745\u30a2\u30df\u30ce\u9178\u304b\u3089\u6210\u308b\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u819c\u8f38\u9001\u4f53ABCD1\uff08ALDP\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3001VLCFA\u306e\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u5185\u3078\u306e\u8f38\u9001\u3092\u62c5\u3046\u3002ABCD1\u306e\u6a5f\u80fd\u4e0d\u5168\u306b\u3088\u308aVLCFA\u306e\u5206\u89e3\u304c\u969c\u5bb3\u3055\u308c\u3001\u7279\u306bC26:0\u3084C26:1\u306a\u3069\u306eVLCFA\u304c\u84c4\u7a4d\u3059\u308b\u3053\u3068\u3067\u7d30\u80de\u819c\u306e\u6052\u5e38\u6027\u304c\u7834\u7dbb\u3057\u3001\u795e\u7d4c\u5909\u6027\u3084\u526f\u814e\u6a5f\u80fd\u4e0d\u5168\u3092\u5f15\u304d\u8d77\u3053\u3059\u3002<\/p>\n\n\n\n<p>ABCD1\u907a\u4f1d\u5b50\u306b\u306f950\u7a2e\u985e\u4ee5\u4e0a\u306e\u75c5\u7684\u5909\u7570\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\uff0841.1%\uff09\u3001\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u5909\u7570\uff0830.6%\uff09\u3001\u30ca\u30f3\u30bb\u30f3\u30b9\u5909\u7570\uff0813.7%\uff09\u306a\u3069\u304c\u542b\u307e\u308c\u308b\u3002\u3057\u304b\u3057\u3001\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u5909\u7570\u3068\u81e8\u5e8a\u8868\u73fe\u578b\u306e\u95a2\u9023\u6027\u306f\u672a\u89e3\u660e\u3067\u3042\u308a\u3001\u540c\u3058\u5909\u7570\u3092\u6301\u3064\u60a3\u8005\u9593\u3067\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u304c\u5927\u304d\u304f\u7570\u306a\u308b\u3053\u3068\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>X-ALD\u306f\u5927\u304d\u304f\u4ee5\u4e0b\u306e3\u3064\u306e\u8868\u73fe\u578b\u306b\u5206\u985e\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<ol start=\"1\" class=\"wp-block-list\">\n<li><strong>\u8133\u578bALD\uff08CALD\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5150\u7ae5\u671f\uff084\u201310\u6b73\uff09\u3001\u9752\u5e74\u671f\uff0810\u201320\u6b73\uff09\u3001\u6210\u4eba\u671f\uff0820\u6b73\u4ee5\u4e0a\uff09\u306b\u767a\u75c7\u3002<\/li>\n\n\n\n<li>\u5150\u7ae5\u671fCALD\u306f\u6700\u3082\u91cd\u7be4\u3067\u3042\u308a\u3001\u9032\u884c\u6027\u306e\u767d\u8cea\u75c5\u5909\u3001\u8996\u529b\u969c\u5bb3\u3001\u56a5\u4e0b\u969c\u5bb3\u3001\u75d9\u7e2e\u6027\u56db\u80a2\u9ebb\u75fa\u3092\u4f34\u3046\u3002<\/li>\n\n\n\n<li>\u6cbb\u7642\u3057\u306a\u3051\u308c\u3070\u6570\u5e74\u4ee5\u5185\u306b\u5bdd\u305f\u304d\u308a\u3068\u306a\u308a\u3001\u6700\u7d42\u7684\u306b\u6b7b\u306b\u81f3\u308b\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u526f\u814e\u810a\u9ac4\u30cb\u30e5\u30fc\u30ed\u30d1\u30c1\u30fc\uff08AMN\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>30\u301c40\u6b73\u3067\u767a\u75c7\u3057\u3001\u5f90\u3005\u306b\u9032\u884c\u3059\u308b\u3002<\/li>\n\n\n\n<li>\u810a\u9ac4\u306e\u8ef8\u7d22\u5909\u6027\u306b\u3088\u308a\u6b69\u884c\u969c\u5bb3\u3084\u8180\u80f1\u76f4\u8178\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3002<\/li>\n\n\n\n<li>\u8133\u708e\u75c7\u3092\u4f34\u3046AMN\u8133\u578b\u3078\u79fb\u884c\u3059\u308b\u3053\u3068\u3082\u3042\u308b\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u526f\u814e\u6a5f\u80fd\u4e0d\u5168\uff08\u30a2\u30b8\u30bd\u30f3\u75c5\u578b\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u5150\u671f\u306b\u767a\u75c7\u3057\u3001\u75b2\u52b4\u3001\u98df\u6b32\u4e0d\u632f\u3001\u8272\u7d20\u6c88\u7740\u3001\u4f4e\u8840\u7cd6\u306a\u3069\u3092\u5f15\u304d\u8d77\u3053\u3059\u3002<\/li>\n\n\n\n<li>\u8a3a\u65ad\u304c\u9045\u308c\u308b\u3068\u81f4\u547d\u7684\u306a\u526f\u814e\u30af\u30ea\u30fc\u30bc\u3092\u5f15\u304d\u8d77\u3053\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>\u8a3a\u65ad\u306b\u306f\u4ee5\u4e0b\u306e\u65b9\u6cd5\u304c\u7528\u3044\u3089\u308c\u308b\u3002<\/p>\n\n\n\n<ol start=\"1\" class=\"wp-block-list\">\n<li><strong>VLCFA\u6e2c\u5b9a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8840\u4e2dC26:0\u6fc3\u5ea6\u3001\u304a\u3088\u3073C24:0\/C22:0\u3001C26:0\/C22:0\u6bd4\u306e\u4e0a\u6607\u3092\u78ba\u8a8d\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb<\/strong>\n<ul class=\"wp-block-list\">\n<li>ABCD1\u907a\u4f1d\u5b50\u5909\u7570\u306e\u540c\u5b9a\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>MRI\u691c\u67fb<\/strong>\n<ul class=\"wp-block-list\">\n<li>Loes\u30b9\u30b3\u30a2\u3092\u7528\u3044\u305f\u767d\u8cea\u75c5\u5909\u306e\u8a55\u4fa1\u3002<\/li>\n\n\n\n<li>\u81e8\u5e8a\u75c7\u72b6\u306e\u767a\u73fe\u524d\u304b\u3089\u7570\u5e38\u6240\u898b\u304c\u8a8d\u3081\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308b\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0<\/strong>\n<ul class=\"wp-block-list\">\n<li>2006\u5e74\u4ee5\u964d\u3001C26:0-\u30ea\u30be\u30db\u30b9\u30d5\u30a1\u30c1\u30b8\u30eb\u30b3\u30ea\u30f3\uff08C26:0-LysoPC\uff09\u6e2c\u5b9a\u304c\u5c0e\u5165\u3055\u308c\u3001\u65e9\u671f\u8a3a\u65ad\u304c\u53ef\u80fd\u306b\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<ol start=\"1\" class=\"wp-block-list\">\n<li><strong>\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\uff08HSCT\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>Loes\u30b9\u30b3\u30a29\u4ee5\u4e0b\u306e\u5150\u7ae5\u671fCALD\u306b\u9069\u5fdc\u3002<\/li>\n\n\n\n<li>\u65e9\u671f\u79fb\u690d\u306b\u3088\u308a\u9032\u884c\u3092\u6291\u5236\u53ef\u80fd\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u6cbb\u7642\uff08Lenti-D\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u907a\u4f1d\u5b50\u4fee\u6b63\u5e79\u7d30\u80de\u3092\u7528\u3044\u305f\u6cbb\u7642\u6cd5\u3002<\/li>\n\n\n\n<li>2021\u5e74\u306b\u7c73\u56fdFDA\u627f\u8a8d\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u526f\u814e\u30db\u30eb\u30e2\u30f3\u88dc\u5145\u7642\u6cd5<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u526f\u814e\u6a5f\u80fd\u4e0d\u5168\u306b\u5bfe\u3057\u3001\u30d2\u30c9\u30ed\u30b3\u30eb\u30c1\u30be\u30f3\u3084\u30d5\u30eb\u30c9\u30ed\u30b3\u30eb\u30c1\u30be\u30f3\u3092\u4f7f\u7528\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6297\u9178\u5316\u7642\u6cd5<\/strong>\n<ul class=\"wp-block-list\">\n<li>N-\u30a2\u30bb\u30c1\u30eb\u30b7\u30b9\u30c6\u30a4\u30f3\u3001\u03b1-\u30c8\u30b3\u30d5\u30a7\u30ed\u30fc\u30eb\u3001\u03b1-\u30ea\u30dd\u9178\u306a\u3069\u3002<\/li>\n\n\n\n<li>\u9178\u5316\u30b9\u30c8\u30ec\u30b9\u8efd\u6e1b\u306b\u3088\u308b\u795e\u7d4c\u4fdd\u8b77\u52b9\u679c\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u98df\u4e8b\u7642\u6cd5<\/strong>\n<ul class=\"wp-block-list\">\n<li>VLCFA\u6442\u53d6\u5236\u9650\u3068\u30ed\u30fc\u30ba\u30de\u30ea\u30fc\u30aa\u30a4\u30eb\uff08\u30aa\u30ec\u30a4\u30f3\u9178\u30fb\u30a8\u30eb\u30ab\u9178\uff09\u306e\u6295\u4e0e\u3002<\/li>\n\n\n\n<li>\u305f\u3060\u3057\u3001\u9577\u671f\u7684\u306a\u795e\u7d4c\u4fdd\u8b77\u52b9\u679c\u306f\u9650\u5b9a\u7684\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>X-ALD\u306e\u4e88\u5f8c\u306f\u8868\u73fe\u578b\u306b\u4f9d\u5b58\u3059\u308b\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5150\u7ae5\u671fCALD<\/strong>\uff1a\u672a\u6cbb\u7642\u3067\u306f\u6570\u5e74\u3067\u81f4\u6b7b\u7684\u3002<\/li>\n\n\n\n<li><strong>AMN<\/strong>\uff1a\u9032\u884c\u6027\u3060\u304c\u3001\u8133\u578b\u3078\u306e\u79fb\u884c\u304c\u306a\u3051\u308c\u3070\u5bff\u547d\u306b\u5927\u304d\u306a\u5f71\u97ff\u306f\u306a\u3044\u3002<\/li>\n\n\n\n<li><strong>\u526f\u814e\u6a5f\u80fd\u4e0d\u5168\u306e\u307f\u306e\u578b<\/strong>\uff1a\u9069\u5207\u306a\u30db\u30eb\u30e2\u30f3\u88dc\u5145\u306b\u3088\u308a\u7ba1\u7406\u53ef\u80fd\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u5f15\u7528\u6587\u732e\uff5cReferences<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1002\/jnr.24953\">Manor, J., Chung, H., Bhagwat, P. K., &amp; Wangler, M. F. (2021). ABCD1 and X\u2010linked adrenoleukodystrophy: A disease with a markedly variable phenotype showing conserved neurobiology in animal models. <em>Journal of Neuroscience Research<\/em>, <em>99<\/em>(12), 3170\u20133181. https:\/\/doi.org\/10.1002\/jnr.24953<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s12944-024-02361-0\">Zuo, X., Chen, Z. From gene to therapy: a review of deciphering the role of <em>ABCD1<\/em> in combating X-Linked adrenoleukodystrophy. <em>Lipids Health Dis<\/em> <strong>23<\/strong>, 369 (2024). https:\/\/doi.org\/10.1186\/s12944-024-02361-0<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1155\/2022\/5479781\">Dong, B., Lv, W., Xu, L., Zhao, Y., Sun, X., Wang, Z., Cheng, B., Fu, Z., &amp; Wang, Y. (2022). Identification of two novel mutations of abcd1 gene in pedigrees with x-linked adrenoleukodystrophy and review of the literature. <em>International Journal of Endocrinology<\/em>, <em>2022<\/em>, 1\u201313. https:\/\/doi.org\/10.1155\/2022\/5479781<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/ijms24065957\">Dohr, K. A., Tokic, S., Gastager-Ehgartner, M., Stojakovic, T., Dumic, M., Plecko, B., &amp; Dumic, K. K. (2023). Two single nucleotide deletions in the abcd1 gene causing distinct phenotypes of x-linked adrenoleukodystrophy. <em>International Journal of Molecular Sciences<\/em>, <em>24<\/em>(6), 5957. https:\/\/doi.org\/10.3390\/ijms24065957<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s40478-023-01595-w\">Martinovi\u0107, K., Bauer, J., Kunze, M. <em>et al.<\/em> <em>Abcd1<\/em> deficiency accelerates cuprizone-induced oligodendrocyte loss and axonopathy in a demyelinating mouse model of X-linked adrenoleukodystrophy. <em>acta neuropathol commun<\/em> <strong>11<\/strong>, 98 (2023). https:\/\/doi.org\/10.1186\/s40478-023-01595-w<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>X\u9023\u9396\u6027\u526f\u814e\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc, X-ALD, ABCD1, VLCFA, \u526f\u814e\u6a5f\u80fd\u4e0d\u5168, \u526f\u814e\u810a\u9ac4\u30cb\u30e5\u30fc\u30ed\u30d1\u30c1\u30fc, CALD, AMN, \u907a\u4f1d\u5b50\u5909\u7570, \u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d, \u907a\u4f1d\u5b50\u6cbb\u7642, Loes\u30b9\u30b3\u30a2, \u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-60318","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60318","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":7,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60318\/revisions"}],"predecessor-version":[{"id":128108,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60318\/revisions\/128108"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=60318"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}