{"id":122113,"date":"2026-01-08T17:39:05","date_gmt":"2026-01-08T08:39:05","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=122113"},"modified":"2026-01-08T17:39:06","modified_gmt":"2026-01-08T08:39:06","slug":"zellweger-spectrum-disorders-pex6-related-pex6","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/zellweger-spectrum-disorders-pex6-related-pex6\/","title":{"rendered":"\u30bc\u30eb\u30a6\u30a3\u30ac\u30fc\u30fb\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\u3001\uff08PEX6\u95a2\u9023\uff09\u3001PEX6"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u6982\u8981<\/strong><\/h2>\n\n\n\n<p>\u30bc\u30eb\u30a6\u30a3\u30ac\u30fc\u30fb\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\uff08Zellweger Spectrum Disorders\uff1aZSD\uff09\u306f\u3001\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u306e\u5f62\u6210\u304a\u3088\u3073\u6a5f\u80fd\u7570\u5e38\u306b\u3088\u308a\u751f\u3058\u308b\u5148\u5929\u6027\u4ee3\u8b1d\u75be\u60a3\u7fa4\u3067\u3059\u3002PEX\u907a\u4f1d\u5b50\u7fa4\uff08PEX1\u3001PEX6\u3001PEX12\u306a\u3069\uff09\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u3001\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u5185\u3078\u306e\u9175\u7d20\u8f38\u9001\u304c\u969c\u5bb3\u3055\u308c\u3001\u8102\u80aa\u9178\u4ee3\u8b1d\u3084\u904e\u9178\u5316\u6c34\u7d20\u51e6\u7406\u3001\u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\u5408\u6210\u306a\u3069\u304c\u6b63\u5e38\u306b\u884c\u308f\u308c\u306a\u304f\u306a\u308a\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u8d85\u9577\u9396\u8102\u80aa\u9178\uff08VLCFA\uff09\u306e\u84c4\u7a4d\u3001\u80c6\u6c41\u9178\u4ee3\u8b1d\u7570\u5e38\u3001\u30df\u30a8\u30ea\u30f3\u5f62\u6210\u969c\u5bb3\u306a\u3069\u304c\u751f\u3058\u3001\u591a\u81d3\u5668\u306b\u969c\u5bb3\u3092\u6765\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>PEX6\u95a2\u9023\u578b\u306f\u3001ZSD\u306e\u4e2d\u3067\u3082\u6bd4\u8f03\u7684\u983b\u5ea6\u306e\u9ad8\u3044\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u4e00\u3064\u3067\u3042\u308a\u3001\u65b0\u751f\u5150\u671f\u767a\u75c7\u306e\u91cd\u75c7\u578b\u304b\u3089\u5c0f\u5150\u671f\u30fb\u6210\u4eba\u671f\u767a\u75c7\u306e\u8efd\u75c7\u578b\u307e\u3067\u5e45\u5e83\u3044\u8868\u73fe\u578b\u3092\u793a\u3057\u307e\u3059\u3002(PMC)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u75ab\u5b66<\/strong><\/h2>\n\n\n\n<p>ZSD\u5168\u4f53\u306e\u6709\u75c5\u7387\u306f\u51fa\u751f5\u4e07\u301c10\u4e07\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u307e\u3059\u3002PEX6\u306fPEX1\u306b\u6b21\u3044\u3067\u591a\u3044\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002(Orphanet)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p>\u672c\u75be\u60a3\u306fPEX6\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u308a\u767a\u75c7\u3057\u307e\u3059\u3002PEX6\u306f\u30d2\u30c86\u756a\u67d3\u8272\u4f53\uff086p21\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u819c\u3078\u306e\u30bf\u30f3\u30d1\u30af\u8f38\u9001\u306b\u95a2\u4e0e\u3059\u308bAAA-ATPase\u30d5\u30a1\u30df\u30ea\u30fc\u306e\u4e00\u54e1\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u5f62\u6210\u304c\u963b\u5bb3\u3055\u308c\u3001\u4ee3\u8b1d\u969c\u5bb3\u304c\u751f\u3058\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n<p>\u907a\u4f1d\u5f62\u5f0f\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-recessive-genetics-support\/\">\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d<\/a>\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u75c7\u72b6<\/strong><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u795e\u7d4c\u7cfb<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/li>\n\n\n\n<li>\u3051\u3044\u308c\u3093<\/li>\n\n\n\n<li>\u767a\u9054\u9045\u6ede<\/li>\n\n\n\n<li>\u8074\u899a\u30fb\u8996\u899a\u969c\u5bb3<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u809d\u80c6\u9053<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u809d\u816b\u5927<\/li>\n\n\n\n<li>\u80c6\u6c41\u3046\u3063\u6ede<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u9aa8\u683c<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u982d\u84cb\u9854\u9762\u7570\u5e38<\/li>\n\n\n\n<li>\u95a2\u7bc0\u62d8\u7e2e<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u611f\u899a\u5668<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7db2\u819c\u5909\u6027<\/li>\n\n\n\n<li>\u96e3\u8074<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad<\/strong><\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u8840\u4e2dVLCFA\u9ad8\u5024<\/li>\n\n\n\n<li>\u8840\u4e2d\u30d5\u30a3\u30bf\u30f3\u9178\u4e0a\u6607<\/li>\n\n\n\n<li>MRI\u3067\u767d\u8cea\u5f62\u6210\u7570\u5e38<\/li>\n\n\n\n<li>\u907a\u4f1d\u5b50\u8a3a\u65ad\uff08PEX6\u89e3\u6790\uff09(PMC)<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5bfe\u75c7\u7642\u6cd5\u4e2d\u5fc3<\/li>\n\n\n\n<li>\u6804\u990a\u7ba1\u7406<\/li>\n\n\n\n<li>\u767a\u9054\u652f\u63f4<\/li>\n\n\n\n<li>\u3066\u3093\u304b\u3093\u7ba1\u7406<\/li>\n\n\n\n<li>\u8074\u899a\u30fb\u8996\u899a\u652f\u63f4<\/li>\n<\/ul>\n\n\n\n<p>\u6839\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<p>Zellweger Spectrum Disorders \u2014 GeneReviews, PubMed Central.(PMC)<br>Braverman NE et al. Zellweger spectrum disorders. Nat Rev Dis Primers. 2016.(Nature Reviews)<br>Zellweger Spectrum Disorders \u2014 Orphanet Rare Disease Database.(Orphanet)<br>ZSD \u2014 Malacards Rare Disease Database.(malacards.org)<\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-122113","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\/122113","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":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122113\/revisions"}],"predecessor-version":[{"id":122114,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122113\/revisions\/122114"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122113"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}