{"id":33693,"date":"2022-07-11T18:16:28","date_gmt":"2022-07-11T09:16:28","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33693"},"modified":"2026-04-28T12:34:48","modified_gmt":"2026-04-28T03:34:48","slug":"zellweger-syndrome-spectrum-pex1-related","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/zellweger-syndrome-spectrum-pex1-related\/","title":{"rendered":"\u30c4\u30a7\u30eb\u30a6\u30a7\u30ac\u30fc\u75c7\u5019\u7fa4\uff08PEX1\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>\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u751f\u5408\u6210\u969c\u5bb3\uff08PBDs\uff09\u306e\u4e00\u7a2e\u3067\u3042\u308b\u30c4\u30a7\u30eb\u30d9\u30fc\u30ac\u30fc\u75c7\u5019\u7fa4\u30b9\u30da\u30af\u30c8\u30e9\u30e0\uff08ZSD\uff09\u306f\u3001PEX1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u7a00\u306a\u75be\u60a3\u3067\u3059\u3002\u7d30\u80de\u5185\u3067\u8102\u80aa\u306e\u5206\u89e3\u3084\u795e\u7d4c\u7cfb\u306e\u767a\u9054\u3092\u52a9\u3051\u308b\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u304c\u6b63\u5e38\u306b\u6a5f\u80fd\u3057\u306a\u3044\u3053\u3068\u3067\u3001\u8996\u529b\u3084\u8074\u529b\u306e\u4f4e\u4e0b\u3001\u767a\u9054\u9045\u5ef6\u3001\u3055\u307e\u3056\u307e\u306a\u795e\u7d4c\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001PEX1\u907a\u4f1d\u5b50\u3068ZSD\u306e\u75c7\u72b6\u30fb\u8a3a\u65ad\u65b9\u6cd5\u30fb\u6700\u65b0\u306e\u6cbb\u7642\u7814\u7a76\u306b\u3064\u3044\u3066\u3001\u308f\u304b\u308a\u3084\u3059\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>PEX1\uff5cPeroxisome Biogenesis Disorder, Zellweger Syndrome Spectrum (PEX1-related)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u751f\u5408\u6210\u969c\u5bb3\uff08Peroxisome Biogenesis Disorders\uff1aPBDs\uff09\u3001\u7279\u306b\u30c4\u30a7\u30eb\u30d9\u30fc\u30ac\u30fc\u75c7\u5019\u7fa4\u30b9\u30da\u30af\u30c8\u30e9\u30e0\uff08Zellweger Syndrome Spectrum\uff1aZSD\uff09\u306f\u3001PEX1\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u5e0c\u5c11\u306a\u907a\u4f1d\u6027\u75be\u60a3\u7fa4\u3067\u3059\u3002\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u3068\u306f\u3001\u7d30\u80de\u306e\u4e2d\u3067\u8102\u8cea\uff08\u8102\u80aa\uff09\u306e\u4ee3\u8b1d\u3084\u9178\u5316\u30b9\u30c8\u30ec\u30b9\u3078\u306e\u5bfe\u5fdc\u3001\u795e\u7d4c\u7cfb\u306e\u9ac4\u9798\uff08\u795e\u7d4c\u306e\u96fb\u6c17\u4fe1\u53f7\u4f1d\u9054\u3092\u52a9\u3051\u308b\u30ab\u30d0\u30fc\uff09\u306e\u5f62\u6210\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u308b\u5c0f\u5668\u5b98\u306e\u4e00\u7a2e\u3067\u3059\u3002\u3053\u306e\u75c5\u6c17\u3067\u306f\u3001\u305d\u306e\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u304c\u6b63\u5e38\u306b\u4f5c\u3089\u308c\u305a\u3001\u3046\u307e\u304f\u6a5f\u80fd\u3057\u306a\u304f\u306a\u308a\u307e\u3059\u3002ZSD\u306b\u306f\u75c7\u72b6\u306e\u91cd\u3055\u306b\u3088\u3063\u3066\u3044\u304f\u3064\u304b\u306e\u30bf\u30a4\u30d7\u304c\u3042\u308a\u3001\u5f93\u6765\u306f\u3001\u6700\u3082\u91cd\u3044\u300c\u30c4\u30a7\u30eb\u30d9\u30fc\u30ac\u30fc\u75c7\u5019\u7fa4\u300d\u3001\u4e2d\u7a0b\u5ea6\u306e\u300c\u65b0\u751f\u5150\u578b\u526f\u814e\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u300d\u3001\u6bd4\u8f03\u7684\u8efd\u3044\u300c\u4e73\u5150\u578b\u30ec\u30d5\u30b5\u30e0\u75c5\u300d\u306e3\u3064\u306b\u5206\u985e\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4e3b\u306a\u75c7\u72b6\u3068\u3057\u3066\u306f\u3001\u5f90\u3005\u306b\u9032\u884c\u3059\u308b\u8996\u529b\u306e\u4f4e\u4e0b\u3001\u96e3\u8074\u3001\u767a\u9054\u306e\u9045\u308c\u3001\u3055\u307e\u3056\u307e\u306a\u795e\u7d4c\u75c7\u72b6\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>ZSD\u306f\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3068\u3044\u3046\u5f62\u5f0f\u3067\u907a\u4f1d\u3059\u308b\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5f62\u5f0f\u306f\u3001\u7236\u6bcd\u306e\u4e21\u65b9\u304b\u3089\u305d\u308c\u305e\u308c\u7570\u5e38\u306a\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3050\u3053\u3068\u3067\u521d\u3081\u3066\u75c5\u6c17\u304c\u767a\u75c7\u3059\u308b\u3082\u306e\u3067\u3001\u751f\u307e\u308c\u308b\u5b50\u3069\u3082\u306e\u7d045\u4e07\u4eba\u306b1\u4eba\u306e\u5272\u5408\u3067\u767a\u75c7\u3059\u308b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u3053\u306e\u983b\u5ea6\u306b\u306f\u5730\u57df\u5dee\u304c\u3042\u308a\u307e\u3059\u3002ZSD\u306e\u3046\u3061\u7d0470%\u306fPEX1\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u304c\u539f\u56e0\u3067\u3059\u3002\u7279\u306b\u591a\u304f\u898b\u3089\u308c\u308b\u306e\u304cc.2528G&gt;A\uff08p.Gly843Asp\uff09\u3068\u3044\u3046\u5909\u7570\u3067\u3001\u3053\u306e\u5909\u7570\u3092\u6301\u3064\u60a3\u8005\u3055\u3093\u3067\u306f\u6bd4\u8f03\u7684\u8efd\u3044\u75c7\u72b6\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3068\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\u306fPEX1\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u304c\u539f\u56e0\u3067\u3059\u3002PEX1\u907a\u4f1d\u5b50\u306f\u3001\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u304c\u6b63\u5e38\u306b\u7d44\u307f\u7acb\u3066\u3089\u308c\u308b\u305f\u3081\u306b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3067\u3001\u300c\u30a8\u30af\u30b9\u30dd\u30eb\u30c8\u30de\u30fc\uff08exportomer\uff09\u300d\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u8907\u5408\u4f53\u3092\u69cb\u6210\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u30a8\u30af\u30b9\u30dd\u30eb\u30c8\u30de\u30fc\u306f\u3001\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u304c\u50cd\u304f\u306e\u306b\u5fc5\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30ea\u30b5\u30a4\u30af\u30eb\u3059\u308b\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002PEX1\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u3053\u306e\u30ea\u30b5\u30a4\u30af\u30eb\u6a5f\u80fd\u304c\u59a8\u3052\u3089\u308c\u308b\u3068\u3001\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u306e\u91cd\u8981\u306a\u5f79\u5272\u3067\u3042\u308b\u8102\u80aa\u9178\u306e\u5206\u89e3\u3084\u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\uff08\u7d30\u80de\u819c\u306b\u91cd\u8981\u306a\u8102\u8cea\u306e\u4e00\u7a2e\uff09\u306e\u5408\u6210\u3001\u6d3b\u6027\u9178\u7d20\uff08\u7d30\u80de\u3092\u50b7\u3064\u3051\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b\u6709\u5bb3\u7269\u8cea\uff09\u306e\u9664\u53bb\u304c\u3046\u307e\u304f\u884c\u308f\u308c\u306a\u304f\u306a\u308a\u307e\u3059\u3002\u6700\u8fd1\u306e\u7814\u7a76\u3067\u306f\u3001\u3053\u306e\u6a5f\u80fd\u4e0d\u5168\u306e\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u304c\u300c\u30da\u30eb\u30aa\u30ad\u30b7\u30f3\uff08peroxin\uff09\u300d\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u7570\u5e38\u306b\u84c4\u7a4d\u3055\u305b\u3001\u305d\u308c\u304c\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\uff08\u7d30\u80de\u306e\u30a8\u30cd\u30eb\u30ae\u30fc\u5de5\u5834\u3068\u3057\u3066\u77e5\u3089\u308c\u308b\u5668\u5b98\uff09\u306b\u3082\u5f71\u97ff\u3092\u4e0e\u3048\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u50cd\u304d\u3092\u5f31\u3081\u3066\u75c5\u6c17\u306e\u75c7\u72b6\u3092\u3055\u3089\u306b\u60aa\u5316\u3055\u305b\u308b\u3053\u3068\u3082\u308f\u304b\u3063\u3066\u304d\u3066\u3044\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>\u60a3\u8005\u3055\u3093\u306e\u75c7\u72b6\u306b\u306f\u5e45\u304c\u3042\u308a\u3001\u91cd\u3044\u3082\u306e\u304b\u3089\u6bd4\u8f03\u7684\u8efd\u3044\u3082\u306e\u307e\u3067\u3055\u307e\u3056\u307e\u3067\u3059\u3002\u4e00\u822c\u7684\u306a\u75c7\u72b6\u3068\u3057\u3066\u306f\u3001\u7db2\u819c\u306e\u5909\u6027\u306b\u4f34\u3046\u8996\u529b\u306e\u4f4e\u4e0b\u3001\u96e3\u8074\u3001\u7b4b\u8089\u306e\u7dca\u5f35\u304c\u5f31\u304f\u306a\u308b\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u4f4e\u7dca\u5f35\u3001hypotonia\uff09\u3001\u982d\u90e8\u3084\u9854\u9762\u306e\u5f62\u614b\u7570\u5e38\u3001\u6b6f\u306e\u30a8\u30ca\u30e1\u30eb\u8cea\u306e\u5f62\u6210\u7570\u5e38\u3001\u767a\u9054\u306e\u9045\u308c\u3001\u809d\u81d3\u6a5f\u80fd\u969c\u5bb3\u3001\u795e\u7d4c\u7cfb\u306e\u7570\u5e38\u306a\u3069\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u7279\u306b\u3001\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08\u7db2\u819c\u306e\u9032\u884c\u6027\u306e\u5909\u6027\uff09\u306fZSD\u60a3\u8005\u3055\u3093\u306e\u307b\u307c\u5168\u54e1\u306b\u73fe\u308c\u3001\u75c7\u72b6\u306e\u8efd\u3044\u30b1\u30fc\u30b9\u3067\u3082\u3001\u9045\u304f\u3068\u3082\u5b50\u3069\u3082\u304b\u3089\u6210\u4eba\u306e\u521d\u671f\u306b\u304b\u3051\u3066\u6cd5\u7684\u5931\u660e\uff08\u8996\u529b\u304c\u975e\u5e38\u306b\u4f4e\u4e0b\u3059\u308b\u72b6\u614b\uff09\u306b\u81f3\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\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>\u8a3a\u65ad\u3067\u306f\u3001\u307e\u305a\u8840\u6db2\u691c\u67fb\u306a\u3069\u3067\u4f53\u5185\u306e\u300c\u6975\u9577\u9396\u8102\u80aa\u9178\uff08very long-chain fatty acids\uff1aVLCFA\uff09\u300d\u304c\u5897\u52a0\u3057\u3066\u3044\u308b\u304b\u3001\u307e\u305f\u306f\u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\u306e\u91cf\u304c\u6e1b\u5c11\u3057\u3066\u3044\u308b\u304b\u3092\u8abf\u3079\u307e\u3059\u3002\u305d\u306e\u5f8c\u3001PEX1\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u3092\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u78ba\u8a8d\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u773c\u79d1\u7684\u306a\u691c\u67fb\u3068\u3057\u3066\u3001\u773c\u5e95\u691c\u67fb\uff08\u773c\u7403\u5185\u90e8\u3092\u76f4\u63a5\u89b3\u5bdf\uff09\u3001\u7db2\u819c\u96fb\u56f3\u691c\u67fb\uff08\u96fb\u6c17\u4fe1\u53f7\u3067\u7db2\u819c\u306e\u50cd\u304d\u3092\u8abf\u3079\u308b\u691c\u67fb\uff09\u3001\u5149\u5e72\u6e09\u65ad\u5c64\u8a08\uff08optical coherence tomography\uff1aOCT\uff09\u306b\u3088\u308b\u7db2\u819c\u306e\u72b6\u614b\u306e\u8a73\u3057\u3044\u8a55\u4fa1\u3092\u884c\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u691c\u67fb\u3067\u306f\u3001\u7db2\u819c\u8272\u7d20\u306e\u5909\u5316\u3001\u8996\u795e\u7d4c\u4e73\u982d\uff08\u8996\u795e\u7d4c\u304c\u7db2\u819c\u306b\u5165\u308b\u5834\u6240\uff09\u306e\u7570\u5e38\u3001\u7db2\u819c\u306e\u88c2\u3051\u76ee\u72b6\u306e\u5909\u5316\uff08\u7db2\u819c\u5206\u96e2\u306b\u4f3c\u305f\u5909\u5316\uff09\u3084\u7db2\u819c\u6a5f\u80fd\u306e\u4f4e\u4e0b\u304c\u8a8d\u3081\u3089\u308c\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>\u73fe\u72b6\u3067\u306f\u3001ZSD\u306e\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u306a\u304f\u3001\u75c7\u72b6\u3092\u7de9\u548c\u3059\u308b\u305f\u3081\u306e\u5bfe\u75c7\u7642\u6cd5\uff08\u8996\u529b\u3084\u8074\u529b\u3092\u88dc\u52a9\u3059\u308b\u88c5\u5177\u3001\u767a\u9054\u3092\u652f\u63f4\u3059\u308b\u30ea\u30cf\u30d3\u30ea\u306a\u3069\uff09\u304c\u4e2d\u5fc3\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u7814\u7a76\u6bb5\u968e\u3067\u306f\u907a\u4f1d\u5b50\u88dc\u5145\u7642\u6cd5\uff08\u7570\u5e38\u306a\u907a\u4f1d\u5b50\u3092\u88dc\u3046\u6cbb\u7642\uff09\u304c\u884c\u308f\u308c\u3066\u304a\u308a\u3001\u52d5\u7269\u30e2\u30c7\u30eb\u3067\u306f\u7db2\u819c\u306e\u5909\u6027\u3092\u9045\u3089\u305b\u305f\u308a\u3001\u8996\u899a\u6a5f\u80fd\u3092\u90e8\u5206\u7684\u306b\u56de\u5fa9\u3055\u305b\u305f\u308a\u3059\u308b\u52b9\u679c\u304c\u8a8d\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u7d30\u80de\u5185\u306e\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u306e\u5206\u89e3\uff08pexophagy\uff09\u3092\u6291\u5236\u3059\u308b\u85ac\u5264\uff08\u30d2\u30c9\u30ed\u30ad\u30b7\u30af\u30ed\u30ed\u30ad\u30f3\uff09\u306a\u3069\u3082\u7814\u7a76\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u795e\u7d4c\u5185\u79d1\u3001\u773c\u79d1\u3001\u907a\u4f1d\u5b50\u533b\u7642\u3001\u4ee3\u8b1d\u75be\u60a3\u5c02\u9580\u533b\u306a\u3069\u3001\u8907\u6570\u306e\u5c02\u9580\u533b\u304c\u5354\u529b\u3057\u3066\u60a3\u8005\u3055\u3093\u3092\u652f\u63f4\u3059\u308b\u7dcf\u5408\u7684\u306a\u30b1\u30a2\uff08\u591a\u8077\u7a2e\u9023\u643a\uff09\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>\u4e88\u5f8c\uff08\u75c5\u6c17\u306e\u7d4c\u904e\u3084\u5c06\u6765\u306e\u898b\u901a\u3057\uff09\u306f\u75c7\u72b6\u306e\u91cd\u3055\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u6700\u3082\u91cd\u75c7\u306e\u30c4\u30a7\u30eb\u30d9\u30fc\u30ac\u30fc\u75c7\u5019\u7fa4\u306e\u5834\u5408\u3001\u591a\u304f\u304c1\u6b73\u672a\u6e80\u3067\u591a\u81d3\u5668\u4e0d\u5168\u306b\u3088\u308a\u4ea1\u304f\u306a\u308a\u307e\u3059\u3002\u75c7\u72b6\u304c\u4e2d\u7b49\u5ea6\u3084\u8efd\u5ea6\u306e\u5834\u5408\u306f\u6210\u4eba\u671f\u307e\u3067\u751f\u5b58\u53ef\u80fd\u3067\u3059\u304c\u3001\u8996\u529b\u30fb\u8074\u529b\u306e\u4f4e\u4e0b\u3084\u795e\u7d4c\u75c7\u72b6\u306f\u5f90\u3005\u306b\u9032\u884c\u3057\u3001\u751f\u6d3b\u306e\u8cea\u306b\u5927\u304d\u306a\u5f71\u97ff\u3092\u4e0e\u3048\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u7279\u306b\u8996\u529b\u3084\u8074\u529b\u306e\u7ba1\u7406\u306a\u3069\u3001\u65e9\u671f\u304b\u3089\u9069\u5207\u306a\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u60a3\u8005\u3055\u3093\u306e\u751f\u6d3b\u306e\u8cea\u3092\u6539\u5584\u3067\u304d\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\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:\/\/doi.org\/10.1016\/j.ophtha.2023.07.026\">Yergeau, C., Coussa, R. G., Antaki, F., Argyriou, C., Koenekoop, R. K., &amp; Braverman, N. E. (2023). Zellweger spectrum disorder. <em>Ophthalmology<\/em>, <em>130<\/em>(12), 1313\u20131326. https:\/\/doi.org\/10.1016\/j.ophtha.2023.07.026<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.fmre.2023.04.016\">Xu, W., Yan, J., Shao, A., Lenahan, C., Gao, L., Wu, H., Zheng, J., Zhang, J., &amp; Zhang, J. H. (2024). Peroxisome and pexophagy in neurological diseases. <em>Fundamental Research<\/em>, <em>4<\/em>(6), 1389\u20131397. https:\/\/doi.org\/10.1016\/j.fmre.2023.04.016<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.yebeh.2023.109266\">Liang, J.-S., Hung, K.-L., Lin, L.-J., Ong, W. P., Keng, W. T., &amp; Lu, J.-F. (2023). Novel PEX1 mutations in fibroblasts from children with Zellweger spectrum disorders exhibit temperature sensitive characteristics. <em>Epilepsy &amp; Behavior<\/em>, <em>145<\/em>, 109266. https:\/\/doi.org\/10.1016\/j.yebeh.2023.109266<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.omtm.2021.09.002\">Argyriou, C., Polosa, A., Song, J. Y., Omri, S., Steele, B., C\u00e9cyre, B., McDougald, D. S., Di Pietro, E., Bouchard, J.-F., Bennett, J., Hacia, J. G., Lachapelle, P., &amp; Braverman, N. E. (2021). AAV-mediated PEX1 gene augmentation improves visual function in the PEX1-Gly844Asp mouse model for mild Zellweger spectrum disorder. <em>Molecular Therapy &#8211; Methods &amp; Clinical Development<\/em>, <em>23<\/em>, 225\u2013240. https:\/\/doi.org\/10.1016\/j.omtm.2021.09.002<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1080\/13816810.2024.2330389\">Karuntu, J. S., Klouwer, F. C. C., Engelen, M., &amp; Boon, C. J. F. (2024). Systematic study of ophthalmological findings in 10 patients with <em>PEX1<\/em> -mediated Zellweger spectrum disorder. <em>Ophthalmic Genetics<\/em>, <em>45<\/em>(4), 351\u2013362. https:\/\/doi.org\/10.1080\/13816810.2024.2330389<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.15252\/embr.202051991\">Nuebel, E., Morgan, J. T., Fogarty, S., Winter, J. M., Lettlova, S., Berg, J. A., Chen, Y., Kidwell, C. U., Maschek, J. A., Clowers, K. J., Argyriou, C., Chen, L., Wittig, I., Cox, J. E., Roh\u2010Johnson, M., Braverman, N., Bonkowsky, J., Gygi, S. P., &amp; Rutter, J. (2021). The biochemical basis of mitochondrial dysfunction in Zellweger Spectrum Disorder. <em>EMBO Reports<\/em>, <em>22<\/em>(10), e51991. https:\/\/doi.org\/10.15252\/embr.202051991<\/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>PEX1, \u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u751f\u5408\u6210\u969c\u5bb3, \u30c4\u30a7\u30eb\u30d9\u30fc\u30ac\u30fc\u75c7\u5019\u7fa4\u30b9\u30da\u30af\u30c8\u30e9\u30e0, Zellweger\u75c7\u5019\u7fa4, \u526f\u814e\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc, \u4e73\u5150\u578b\u30ec\u30d5\u30b5\u30e0\u75c5, c.2528G&gt;A, p.Gly843Asp, \u30da\u30eb\u30aa\u30ad\u30b7\u30f3, \u6975\u9577\u9396\u8102\u80aa\u9178, \u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3, \u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":34,"template":"page_gd.php","class_list":["post-33693","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\/33693","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":11,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33693\/revisions"}],"predecessor-version":[{"id":127698,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33693\/revisions\/127698"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33693"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}