{"id":45294,"date":"2022-10-24T18:19:11","date_gmt":"2022-10-24T09:19:11","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=45294"},"modified":"2026-04-28T13:50:20","modified_gmt":"2026-04-28T04:50:20","slug":"zellweger-syndrome-spectrum-pex2-related","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/zellweger-syndrome-spectrum-pex2-related\/","title":{"rendered":"\u30c4\u30a7\u30eb\u30a6\u30a7\u30ac\u30fc\u75c7\u5019\u7fa4\uff08PEX2\uff09"},"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>\u30c4\u30a7\u30eb\u30d9\u30fc\u30ac\u30fc\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\uff08ZSD\uff09\u306f\u3001\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u306e\u5f62\u6210\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u5e0c\u5c11\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002PEX2\u3092\u542b\u3080PEX\u907a\u4f1d\u5b50\u7fa4\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u3042\u308a\u3001\u91cd\u75c7\u578b\u3067\u306f\u65b0\u751f\u5150\u671f\u304b\u3089\u6df1\u523b\u306a\u795e\u7d4c\u969c\u5bb3\u3084\u591a\u81d3\u5668\u4e0d\u5168\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001ZSD\u306e\u539f\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u6cd5\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\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>PEX2\uff5cZellweger Syndrome Spectrum<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u30c4\u30a7\u30eb\u30d9\u30fc\u30ac\u30fc\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\uff08ZSD\uff09\u306f\u3001PEX\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u751f\u5408\u6210\u969c\u5bb3\u306e\u4e00\u7a2e\u3067\u3042\u308a\u3001PEX2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3082\u542b\u307e\u308c\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff08\u4e21\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u30602\u3064\u306e\u907a\u4f1d\u5b50\u304c\u3068\u3082\u306b\u5909\u7570\u3057\u3066\u3044\u308b\u5834\u5408\u306b\u767a\u75c7\uff09\u3067\u3042\u308a\u3001\u8907\u6570\u306e\u81d3\u5668\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\u3002\u65b0\u751f\u5150\u671f\u306b\u767a\u75c7\u3059\u308b\u91cd\u75c7\u578b\u304b\u3089\u3001\u6210\u4eba\u307e\u3067\u751f\u5b58\u3059\u308b\u8efd\u75c7\u578b\u307e\u3067\u3001\u5e45\u5e83\u3044\u81e8\u5e8a\u75c7\u72b6\u3092\u793a\u3057\u307e\u3059\u3002\u304b\u3064\u3066\u306f\u30c4\u30a7\u30eb\u30d9\u30fc\u30ac\u30fc\u75c7\u5019\u7fa4\uff08ZS\uff09\u3001\u65b0\u751f\u5150\u526f\u814e\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08NALD\uff09\u3001\u4e73\u5150\u578b\u30ec\u30d5\u30b5\u30e0\u75c5\uff08IRD\uff09\u3068\u533a\u5225\u3055\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u73fe\u5728\u3067\u306f\u540c\u3058\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u4e0a\u306e\u75be\u60a3\u3068\u307f\u306a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u91cd\u75c7\u578b\u3067\u306f\u65e9\u671f\u6b7b\u4ea1\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u4e00\u65b9\u3001\u8efd\u75c7\u578b\u3067\u306f\u795e\u7d4c\u7cfb\u3084\u4ed6\u306e\u81d3\u5668\u306e\u969c\u5bb3\u3092\u4f34\u3044\u306a\u304c\u3089\u3082\u6210\u4eba\u307e\u3067\u751f\u5b58\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>ZSD\u306e\u767a\u75c7\u7387\u306f\u3001\u5168\u4e16\u754c\u3067\u7d0450,000\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u907a\u4f1d\u7684\u80cc\u666f\u306b\u3088\u3063\u3066\u5730\u57df\u5dee\u304c\u3042\u308a\u3001\u65e5\u672c\u3067\u306f50\u4e07\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3068\u4f4e\u3044\u767a\u75c7\u7387\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002PEX1\u3084PEX6\u306e\u5909\u7570\u304cZSD\u306e\u5927\u90e8\u5206\u3092\u5360\u3081\u308b\u4e00\u65b9\u3001PEX2\u306e\u5909\u7570\u306f\u7d043.1%\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>ZSD\u306f\u3001\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u306e\u5f62\u6210\u3084\u6a5f\u80fd\u306b\u5fc5\u8981\u306a\u30da\u30eb\u30aa\u30ad\u30b7\u30f3\uff08Peroxin\uff09\u3068\u547c\u3070\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3059\u308bPEX\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002PEX2\u907a\u4f1d\u5b50\u306f\u3001\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u819c\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u5185\u90e8\u3078\u306e\u9175\u7d20\u306e\u8f38\u9001\u306b\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u308a\u3001\u975e\u5e38\u306b\u9577\u9396\u8102\u80aa\u9178\uff08VLCFA\uff09\u306e\u5206\u89e3\u3084\u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\u306e\u5408\u6210\u3001\u80c6\u6c41\u9178\u306e\u4ee3\u8b1d\u306b\u5f71\u97ff\u304c\u53ca\u3073\u3001ZSD\u306e\u591a\u81d3\u5668\u969c\u5bb3\u306b\u3064\u306a\u304c\u308a\u307e\u3059\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>ZSD\u306e\u75c7\u72b6\u306f\u907a\u4f1d\u5b50\u5909\u7570\u306e\u7a2e\u985e\u3084\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u306e\u6b8b\u5b58\u6a5f\u80fd\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u91cd\u75c7\u578bZSD\uff08\u65e7\u30c4\u30a7\u30eb\u30d9\u30fc\u30ac\u30fc\u75c7\u5019\u7fa4\uff09<\/strong> \u65b0\u751f\u5150\u671f\u304b\u3089\u660e\u3089\u304b\u306b\u306a\u308b\u6df1\u523b\u306a\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u30d5\u30ed\u30c3\u30d4\u30fc\u30d9\u30d3\u30fc\u75c7\u5019\u7fa4\uff09\u3001\u54fa\u4e73\u56f0\u96e3\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08\u6241\u5e73\u9854\u8c8c\u3001\u5e83\u3044\u9f3b\u6881\u3001\u5927\u6cc9\u9580\u306e\u62e1\u5927\uff09\u3001\u75d9\u6523\u3001\u8074\u899a\u30fb\u8996\u899a\u969c\u5bb3\uff08\u767d\u5185\u969c\u3001\u773c\u632f\u3001\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff09\u306a\u3069\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u809d\u6a5f\u80fd\u969c\u5bb3\u3001\u814e\u56a2\u80de\u3001\u526f\u814e\u4e0d\u5168\u3001\u9aa8\u7570\u5e38\uff08\u8edf\u9aa8\u7570\u5f62\u6210\uff09\u3082\u4f34\u3044\u307e\u3059\u3002\u307b\u3068\u3093\u3069\u306e\u91cd\u75c7\u578b\u60a3\u8005\u306f1\u6b73\u672a\u6e80\u3067\u6b7b\u4ea1\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u4e2d\u7b49\u75c7\u578bZSD\uff08\u65e7NALD\u304a\u3088\u3073IRD\uff09<\/strong> \u767a\u9054\u9045\u6ede\u3092\u4f34\u3046\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u9032\u884c\u6027\u306e\u8074\u899a\u30fb\u8996\u899a\u969c\u5bb3\u3001\u5c0f\u8133\u5931\u8abf\u3001\u591a\u767a\u795e\u7d4c\u969c\u5bb3\u3001\u767d\u8cea\u8133\u75c7\u3001\u809d\u75be\u60a3\u306b\u3088\u308b\u51dd\u56fa\u7570\u5e38\u306a\u3069\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u526f\u814e\u4e0d\u5168\u304c\u307f\u3089\u308c\u307e\u3059\u3002\u8efd\u5ea6\u306e\u30b1\u30fc\u30b9\u3067\u306f\u6210\u4eba\u307e\u3067\u751f\u5b58\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u8efd\u75c7\u578bZSD<\/strong> \u77e5\u7684\u80fd\u529b\u306f\u6b63\u5e38\u307e\u305f\u306f\u8efd\u5ea6\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u8074\u899a\u969c\u5bb3\u3001\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u767d\u5185\u969c\u304c\u6210\u4eba\u671f\u306b\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u9aa8\u6e1b\u5c11\u75c7\u3084\u6b6f\u306e\u5f62\u6210\u7570\u5e38\uff08\u30a8\u30ca\u30e1\u30eb\u8cea\u5f62\u6210\u4e0d\u5168\uff09\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4e00\u90e8\u306e\u60a3\u8005\u306f\u904b\u52d5\u5931\u8abf\u3084\u672b\u68a2\u795e\u7d4c\u969c\u5bb3\u3092\u4f34\u3044\u3001\u751f\u6daf\u306b\u308f\u305f\u3063\u3066\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u75c7\u72b6\u304c\u9032\u884c\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>ZSD\u306e\u8a3a\u65ad\u306f\u3001\u81e8\u5e8a\u75c7\u72b6\u3001\u8840\u6db2\u3084\u5c3f\u4e2d\u306e\u4ee3\u8b1d\u30de\u30fc\u30ab\u30fc\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u57fa\u3065\u3044\u3066\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u81e8\u5e8a\u8a3a\u5bdf\u3067\u306f\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3001\u809d\u6a5f\u80fd\u969c\u5bb3\u3001\u611f\u899a\u5668\u306e\u7570\u5e38\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002\u751f\u5316\u5b66\u691c\u67fb\u3067\u306f\u3001\u8840\u4e2dVLCFA\uff08C26:0\u3001C24:0\/C22:0\u6bd4\uff09\u306e\u4e0a\u6607\u3001\u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\u306e\u6e1b\u5c11\u3001\u80c6\u6c41\u9178\u4e2d\u9593\u4f53\uff08DHCA\u304a\u3088\u3073THCA\uff09\u306e\u7570\u5e38\u306a\u3069\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u306f\u3001PEX2\u3092\u542b\u3080PEX\u907a\u4f1d\u5b50\u7fa4\u306e\u4e8c\u30a2\u30ec\u30eb\u6027\u75c5\u7684\u5909\u7570\u3092\u7279\u5b9a\u3057\u3001\u5909\u7570\u306e\u7a2e\u985e\u306b\u3088\u3063\u3066\u91cd\u75c7\u5ea6\u3092\u4e88\u6e2c\u3057\u307e\u3059\u3002MRI\u306b\u3088\u308b\u8133\u753b\u50cf\u691c\u67fb\u3067\u306f\u3001\u5927\u8133\u56de\u7570\u5e38\u3001\u767d\u8cea\u8133\u75c7\u3001\u8133\u5e79\u840e\u7e2e\u306a\u3069\u304c\u89b3\u5bdf\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>ZSD\u306e\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u304a\u3089\u305a\u3001\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6804\u990a\u7ba1\u7406\u3068\u3057\u3066\u3001\u6442\u98df\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\u306b\u306f\u7d4c\u7ba1\u6804\u990a\uff08\u80c3\u308d\u3046\uff09\u3092\u884c\u3044\u307e\u3059\u3002\u8074\u899a\u969c\u5bb3\u3084\u8996\u899a\u969c\u5bb3\u306b\u306f\u88dc\u8074\u5668\u3084\u773c\u93e1\u3001\u767d\u5185\u969c\u306e\u624b\u8853\u304c\u8003\u616e\u3055\u308c\u307e\u3059\u3002\u809d\u6a5f\u80fd\u969c\u5bb3\u306b\u306f\u30d3\u30bf\u30df\u30f3K\u3084\u8102\u6eb6\u6027\u30d3\u30bf\u30df\u30f3\u306e\u88dc\u5145\u3001\u30b3\u30fc\u30eb\u9178\uff08\u80c6\u6c41\u9178\uff09\u306e\u6295\u4e0e\u304c\u884c\u308f\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u9032\u884c\u3057\u305f\u809d\u75be\u60a3\u3067\u306f\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u75d9\u6523\u306b\u306f\u6a19\u6e96\u7684\u306a\u6297\u3066\u3093\u304b\u3093\u85ac\u304c\u4f7f\u7528\u3055\u308c\u307e\u3059\u3002\u526f\u814e\u4e0d\u5168\u304c\u3042\u308b\u5834\u5408\u306f\u30db\u30eb\u30e2\u30f3\u88dc\u5145\u7642\u6cd5\u304c\u5fc5\u8981\u3068\u306a\u308a\u307e\u3059\u3002\u9aa8\u6e1b\u5c11\u75c7\u306b\u5bfe\u3057\u3066\u306f\u30d3\u30bf\u30df\u30f3D\u88dc\u5145\u3084\u30d3\u30b9\u30db\u30b9\u30db\u30cd\u30fc\u30c8\u7642\u6cd5\u304c\u8003\u616e\u3055\u308c\u307e\u3059\u3002\u6b6f\u306e\u7570\u5e38\u306b\u306f\u6b6f\u79d1\u6cbb\u7642\u304c\u5fc5\u8981\u3067\u3042\u308a\u3001\u814e\u7d50\u77f3\u306b\u5bfe\u3057\u3066\u306f\u6c34\u5206\u88dc\u7d66\u3084\u5916\u79d1\u7684\u6cbb\u7642\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u30a4\u30f3\u30d5\u30eb\u30a8\u30f3\u30b6\u3084RS\u30a6\u30a4\u30eb\u30b9\uff08RSV\uff09\u30ef\u30af\u30c1\u30f3\u306e\u63a5\u7a2e\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>ZSD\u306e\u4e88\u5f8c\u306f\u75c5\u578b\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u75c7\u578bZSD\u3067\u306f\u3001\u751f\u5b58\u671f\u9593\u304c1\u5e74\u672a\u6e80\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u4e88\u5f8c\u306f\u6975\u3081\u3066\u4e0d\u826f\u3067\u3059\u3002\u4e2d\u7b49\u75c7\u578b\u3067\u306f\u9032\u884c\u6027\u306e\u795e\u7d4c\u75c7\u72b6\u3084\u809d\u969c\u5bb3\u304c\u3042\u308a\u3001\u5c0f\u5150\u671f\u304b\u3089\u6210\u4eba\u521d\u671f\u306b\u304b\u3051\u3066\u6b7b\u4ea1\u3059\u308b\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3067\u3059\u3002\u8efd\u75c7\u578b\u3067\u306f\u3001\u6210\u4eba\u307e\u3067\u6a5f\u80fd\u7684\u306b\u81ea\u7acb\u3067\u304d\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u611f\u899a\u5668\u969c\u5bb3\u3084\u4ee3\u8b1d\u6027\u75be\u60a3\u306e\u30ea\u30b9\u30af\u304c\u4f34\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u3001ZSD\u306b\u5bfe\u3059\u308b\u907a\u4f1d\u5b50\u6cbb\u7642\u3084\u4ee3\u8b1d\u88dc\u52a9\u7642\u6cd5\u306e\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u304a\u308a\u3001\u4eca\u5f8c\u306e\u6cbb\u7642\u6cd5\u306e\u78ba\u7acb\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\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:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1448\/\">Steinberg SJ, Raymond GV, Braverman NE, et al. Zellweger Spectrum Disorder. 2003 Dec 12 [Updated 2020 Oct 29]. 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\/NBK1448\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.bbamcr.2022.119330\">Fujiki, Y., Okumoto, K., Honsho, M., &amp; Abe, Y. (2022). Molecular insights into peroxisome homeostasis and peroxisome biogenesis disorders. <em>Biochimica et Biophysica Acta (BBA) &#8211; Molecular Cell Research<\/em>, <em>1869<\/em>(11), 119330. https:\/\/doi.org\/10.1016\/j.bbamcr.2022.119330<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ymgme.2021.05.002\">Takashima, S., Takemoto, S., Toyoshi, K., Ohba, A., &amp; Shimozawa, N. (2021). Zebrafish model of human Zellweger syndrome reveals organ-specific accumulation of distinct fatty acid species and widespread gene expression changes. <em>Molecular Genetics and Metabolism<\/em>, <em>133<\/em>(3), 307\u2013323. https:\/\/doi.org\/10.1016\/j.ymgme.2021.05.002<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.celrep.2024.113744\">Parsons, B. D., Medina-Luna, D., Scur, M., Pinelli, M., Gamage, G. S., Chilvers, R. A., Hamon, Y., Ahmed, I. H. I., Savary, S., Makrigiannis, A. P., Braverman, N. E., Rodriguez-Alcazar, J. F., Latz, E., Karakach, T. K., &amp; Di Cara, F. (2024). Peroxisome deficiency underlies failures in hepatic immune cell development and antigen presentation in a severe Zellweger disease model. <em>Cell Reports<\/em>, <em>43<\/em>(2), 113744. https:\/\/doi.org\/10.1016\/j.celrep.2024.113744<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.taylorfrancis.com\/chapters\/edit\/10.1201\/9781003389699-17\/peroxisomal-disorders-simon-hametner-romana-h%C3%B6ftberger-johannes-berger\">Hametner, S., H\u00f6ftberger, R., &amp; Berger, J. Peroxisomal disorders. In <em>Greenfield&#8217;s Neuropathology 10e Set<\/em> (pp. 565-584). CRC Press.<\/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>\u30c4\u30a7\u30eb\u30d9\u30fc\u30ac\u30fc\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3, ZSD, PEX2, \u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0, Zellweger\u75c7\u5019\u7fa4, \u65b0\u751f\u5150\u795e\u7d4c\u969c\u5bb3, \u907a\u4f1d\u6027\u75be\u60a3, \u767d\u8cea\u8133\u75c7, PEX\u907a\u4f1d\u5b50, \u4ee3\u8b1d\u7570\u5e38, \u8102\u6eb6\u6027\u30d3\u30bf\u30df\u30f3\u6b20\u4e4f, \u809d\u6a5f\u80fd\u969c\u5bb3, \u795e\u7d4c\u5909\u6027<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":33,"template":"page_gd.php","class_list":["post-45294","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\/45294","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":8,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/45294\/revisions"}],"predecessor-version":[{"id":127747,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/45294\/revisions\/127747"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=45294"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}