{"id":33552,"date":"2022-07-11T16:31:57","date_gmt":"2022-07-11T07:31:57","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33552"},"modified":"2026-04-28T11:51:52","modified_gmt":"2026-04-28T02:51:52","slug":"acyl-coa-oxidase-i-deficiency","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/acyl-coa-oxidase-i-deficiency\/","title":{"rendered":"\u30a2\u30b7\u30ebCoA\u30aa\u30ad\u30b7\u30c0\u30fc\u30bcI\u6b20\u640d\u75c7"},"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>\u30a2\u30b7\u30eb-CoA\u30aa\u30ad\u30b7\u30c0\u30fc\u30bcI\uff08ACOX1\uff09\u6b20\u640d\u75c7\u306f\u3001\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u306e\u03b2\u9178\u5316\u969c\u5bb3\u306b\u3088\u308b\u6975\u3081\u3066\u7a00\u306a\u907a\u4f1d\u6027\u4ee3\u8b1d\u75be\u60a3\u3067\u3059\u3002\u672c\u75be\u60a3\u306f\u6975\u9577\u9396\u8102\u80aa\u9178\uff08VLCFA\uff09\u306e\u7570\u5e38\u84c4\u7a4d\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u9032\u884c\u6027\u306e\u795e\u7d4c\u5909\u6027\u3092\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002\u65b0\u751f\u5150\u671f\u304b\u3089\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u767a\u9054\u9045\u6ede\u3001\u3051\u3044\u308c\u3093\u304c\u898b\u3089\u308c\u3001\u591a\u304f\u306e\u60a3\u8005\u306f\u5e7c\u5c11\u671f\u306b\u91cd\u7be4\u306a\u75c7\u72b6\u3092\u5448\u3057\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001ACOX1\u6b20\u640d\u75c7\u306e\u75c5\u56e0\u3001\u8a3a\u65ad\u6cd5\u3001\u6cbb\u7642\u306e\u6700\u65b0\u60c5\u5831\u3092\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>ACOX1\uff5cAcyl-CoA Oxidase I Deficiency<\/p>\n\n\n\n<p><sup>Peroxisomal Acyl-Coa Oxidase Deficiency; Pseudoadrenoleukodystrophy; Pseudo-Nald; Pseudo-Neonatal Adrenoleukodystrophy; Straight-Chain Acyl-Coa Oxidase Deficiency; Pseudoneonatal Adrenoleukodystrophy<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u30a2\u30b7\u30eb-CoA\u30aa\u30ad\u30b7\u30c0\u30fc\u30bcI\uff08ACOX1\uff09\u6b20\u640d\u75c7\u306f\u3001<strong>ACOX1<\/strong>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u975e\u5e38\u306b\u7a00\u306a\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u306e\u4ee3\u8b1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u9175\u7d20\u306f\u3001\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u306b\u304a\u3051\u308b<strong>\u03b2\u9178\u5316<\/strong>\u306e\u6700\u521d\u306e\u30b9\u30c6\u30c3\u30d7\u3092\u62c5\u3044\u3001\u6975\u9577\u9396\u8102\u80aa\u9178\uff08VLCFA\uff09\u306e\u5206\u89e3\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002ACOX1\u306e\u6a5f\u80fd\u304c\u640d\u306a\u308f\u308c\u308b\u3068\u3001VLCFA\u304c\u69d8\u3005\u306a\u7d44\u7e54\u3001\u7279\u306b<strong>\u8133<\/strong>\u306b\u84c4\u7a4d\u3057\u3001\u795e\u7d4c\u5909\u6027\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u81e8\u5e8a\u7684\u306b\u306f\u3001\u65b0\u751f\u5150\u671f\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u767a\u80b2\u9045\u5ef6\u3001\u3051\u3044\u308c\u3093\u3001\u9032\u884c\u6027\u306e\u795e\u7d4c\u75c7\u72b6\u306e\u60aa\u5316\u304c\u898b\u3089\u308c\u3001\u591a\u304f\u306e\u60a3\u8005\u306f\u5e7c\u5c11\u671f\u306b\u6b7b\u4ea1\u3057\u307e\u3059\u3002\u751f\u5316\u5b66\u7684\u306b\u306f\u3001\u8840\u6f3f\u4e2d\u306eVLCFA\u6fc3\u5ea6\u306e\u4e0a\u6607\u3084\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u306e\u7570\u5e38\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>ACOX1\u6b20\u640d\u75c7\u306f<strong>\u6975\u3081\u3066\u7a00\u306a\u75be\u60a3<\/strong>\u3067\u3042\u308a\u3001\u3053\u308c\u307e\u3067\u306e\u533b\u5b66\u6587\u732e\u306b\u304a\u3044\u306630\u4f8b\u672a\u6e80\u3057\u304b\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u3053\u306e\u75be\u60a3\u306f<strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/strong>\u3092\u793a\u3057\u3001<strong>\u4e21\u65b9\u306eACOX1\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u308b\u5834\u5408\u306b\u767a\u75c7<\/strong>\u3057\u307e\u3059\u3002\u901a\u5e38\u3001\u4e21\u89aa\u306f\u7121\u75c7\u72b6\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308a\u3001\u767a\u75c7\u30ea\u30b9\u30af\u304c\u3042\u308b\u3053\u3068\u306b\u6c17\u4ed8\u304b\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u63a8\u5b9a\u6709\u75c5\u7387\u306f<strong>100\u4e07\u4eba\u306b1\u4eba\u672a\u6e80<\/strong>\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u75c7\u4f8b\u6570\u304c\u5c11\u306a\u304f\u3001\u5927\u898f\u6a21\u306a\u75ab\u5b66\u7684\u30c7\u30fc\u30bf\u306f\u5b58\u5728\u3057\u307e\u305b\u3093\u304c\u3001\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u306e\u591a\u304f\u306f\u500b\u5225\u306e\u75c7\u4f8b\u5831\u544a\u3084\u5c0f\u898f\u6a21\u306a\u30b3\u30db\u30fc\u30c8\u7814\u7a76\u306b\u57fa\u3065\u3044\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>ACOX1\u6b20\u640d\u75c7\u306f\u3001<strong>ACOX1\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570<\/strong>\u306b\u3088\u308a\u3001\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u5185\u3067\u306e<strong>VLCFA\u306e\u03b2\u9178\u5316\u304c\u963b\u5bb3<\/strong>\u3055\u308c\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u6a5f\u80fd\u969c\u5bb3\u306b\u3088\u308a\u3001\u4ee5\u4e0b\u306e\u75c5\u614b\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>VLCFA\u306e\u84c4\u7a4d<\/strong>\uff1a\u7279\u306b<strong>\u8133\u3001\u809d\u81d3\u3001\u814e\u81d3<\/strong>\u306b\u84c4\u7a4d\u3057\u3001\u7d44\u7e54\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9178\u5316\u30b9\u30c8\u30ec\u30b9<\/strong>\uff1a\u6d3b\u6027\u9178\u7d20\u7a2e\uff08ROS\uff09\u3084\u6d3b\u6027\u7a92\u7d20\u7a2e\uff08RNS\uff09\u306e\u904e\u5270\u7523\u751f\u306b\u3088\u308b\u7d30\u80de\u969c\u5bb3\u3002<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u708e\u75c7<\/strong>\uff1aVLCFA\u306e\u904e\u5270\u306b\u3088\u308b\u30b0\u30ea\u30a2\u7d30\u80de\u3084\u30df\u30a8\u30ea\u30f3\u69cb\u9020\u306e\u7570\u5e38\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u307e\u3067\u306b\u7279\u5b9a\u3055\u308c\u305f<strong>ACOX1\u907a\u4f1d\u5b50\u5909\u7570<\/strong>\u306b\u306f\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u3082\u306e\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u5909\u7570<\/strong>\uff08\u4f8b\uff1ac.160delC:p.Leu54Serfs*18\uff09\u2192\u9175\u7d20\u306e\u7570\u5e38\u306a\u77ed\u7e2e\u3002<\/li>\n\n\n\n<li><strong>\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570<\/strong>\uff08\u4f8b\uff1ac.1259T&gt;C:p.Phe420Ser\uff09\u2192\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u5b89\u5b9a\u6027\u3084\u6a5f\u80fd\u306b\u5f71\u97ff\u3002<\/li>\n<\/ul>\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>ACOX1\u6b20\u640d\u75c7\u306f<strong>\u65e9\u671f\u767a\u75c7\u306e\u795e\u7d4c\u75c7\u72b6<\/strong>\u3092\u7279\u5fb4\u3068\u3057\u3001\u9032\u884c\u6027\u306b\u60aa\u5316\u3057\u307e\u3059\u3002\u4e3b\u306a\u81e8\u5e8a\u75c7\u72b6\u3068\u3057\u3066\u4ee5\u4e0b\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65b0\u751f\u5150\u671f\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u4f4e\u7dca\u5f35\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u6210\u9577\u4e0d\u826f<\/strong>\uff08\u54fa\u4e73\u56f0\u96e3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\uff09<\/li>\n\n\n\n<li><strong>\u3051\u3044\u308c\u3093<\/strong>\uff08\u591a\u304f\u306e\u60a3\u8005\u306b\u898b\u3089\u308c\u308b\uff09<\/li>\n\n\n\n<li><strong>\u767a\u9054\u9045\u6ede<\/strong>\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\uff09<\/li>\n\n\n\n<li><strong>\u9032\u884c\u6027\u795e\u7d4c\u5909\u6027<\/strong>\uff08\u904b\u52d5\u6a5f\u80fd\u306e\u9000\u884c\u3001\u5c0f\u8133\u5931\u8abf\u3001\u69cb\u97f3\u969c\u5bb3\u3001\u9310\u4f53\u8def\u5fb4\u5019\u306a\u3069\uff09<\/li>\n\n\n\n<li><strong>\u767d\u8cea\u7570\u5e38<\/strong>\uff08MRI\u3067\u691c\u51fa\uff09<\/li>\n\n\n\n<li><strong>\u672b\u68a2\u795e\u7d4c\u969c\u5bb3\u3084\u8996\u899a\u969c\u5bb3<\/strong>\uff08\u8996\u795e\u7d4c\u840e\u7e2e\u3084\u659c\u8996\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308b\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e<strong>\u9032\u884c\u306f\u901f\u304f<\/strong>\u3001\u591a\u304f\u306e\u60a3\u8005\u306f<strong>3\u301c5\u6b73\u307e\u3067\u306b\u91cd\u7be4\u306a\u72b6\u614b\u306b\u9665\u308a<\/strong>\u3001\u5bff\u547d\u304c\u77ed\u7e2e\u3055\u308c\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>ACOX1\u6b20\u640d\u75c7\u306e\u8a3a\u65ad\u306b\u306f\u3001<strong>\u751f\u5316\u5b66\u7684\u691c\u67fb\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3001\u753b\u50cf\u691c\u67fb<\/strong>\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u751f\u5316\u5b66\u7684\u30de\u30fc\u30ab\u30fc<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8840\u6f3fVLCFA\u6fc3\u5ea6\u306e\u4e0a\u6607<\/strong>\uff08C24:0, C25:0, C26:0\uff09<\/li>\n\n\n\n<li><strong>C24:0\/C22:0\u304a\u3088\u3073C26:0\/C22:0\u6bd4\u306e\u5897\u52a0<\/strong><\/li>\n\n\n\n<li><strong>\u7dda\u7dad\u82bd\u7d30\u80de\u57f9\u990a\u306b\u304a\u3051\u308bC24:0 \u03b2\u9178\u5316\u6d3b\u6027\u306e\u8457\u3057\u3044\u4f4e\u4e0b<\/strong><\/li>\n\n\n\n<li><strong>\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u306e\u7570\u5e38<\/strong>\uff08\u7dda\u7dad\u82bd\u7d30\u80de\u7814\u7a76\u306b\u3066\u62e1\u5927\u304a\u3088\u3073\u6e1b\u5c11\uff09<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u691c\u67fb<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\uff08WES\uff09<\/strong><strong>\u306b\u3088\u308b<\/strong><strong>ACOX1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u89e3\u6790<\/strong><\/li>\n\n\n\n<li><strong>\u30b5\u30f3\u30ac\u30fc\u30b7\u30fc\u30b1\u30f3\u30b9<\/strong>\u306b\u3088\u308b\u78ba\u8a8d\u691c\u67fb<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u795e\u7d4c\u753b\u50cf\u691c\u67fb<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8133MRI<\/strong>\u306b\u304a\u3044\u3066\u3001\u5c0f\u8133\u767d\u8cea\u3001\u6a4b\u3001\u307e\u305f\u306f\u5c0f\u8133\u811a\u306eT2\u9ad8\u4fe1\u53f7\u3092\u8a8d\u3081\u308b<\/li>\n\n\n\n<li><strong>\u9032\u884c\u6027\u306e\u767d\u8cea\u840e\u7e2e<\/strong><\/li>\n\n\n\n<li><strong>Loes\u30b9\u30b3\u30a2<\/strong>\uff08X\u9023\u9396\u6027\u526f\u814e\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306b\u7528\u3044\u3089\u308c\u308b\u6307\u6a19\uff09\u306b\u3088\u308b\u767d\u8cea\u75c5\u5909\u306e\u8a55\u4fa1<\/li>\n<\/ul>\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\u5728\u3001<strong>ACOX1\u6b20\u640d\u75c7\u306b\u5bfe\u3059\u308b\u6839\u672c\u7684\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u3057\u307e\u305b\u3093<\/strong>\u3002\u6cbb\u7642\u306f\u4e3b\u306b<strong>\u5bfe\u75c7\u7642\u6cd5<\/strong>\u3067\u3042\u308a\u3001\u75c7\u72b6\u306e\u8efd\u6e1b\u3092\u76ee\u7684\u3068\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u75c7\u72b6\u7ba1\u7406<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6297\u3066\u3093\u304b\u3093\u85ac\uff08AED\uff09\u306b\u3088\u308b\u3051\u3044\u308c\u3093\u7ba1\u7406<\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5<\/strong>\u306b\u3088\u308b\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306e\u7ba1\u7406\u3068\u62d8\u7e2e\u4e88\u9632<\/li>\n\n\n\n<li><strong>\u6804\u990a\u7ba1\u7406<\/strong>\uff08\u91cd\u75c7\u4f8b\u3067\u306f\u80c3\u308d\u3046\u3092\u4f7f\u7528\uff09<\/li>\n\n\n\n<li><strong>\u547c\u5438\u88dc\u52a9<\/strong>\uff08\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u304c\u91cd\u5ea6\u306e\u5834\u5408\uff09<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u7814\u7a76\u6bb5\u968e\u306e\u6cbb\u7642\u6cd5<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u85ac\u5264\u306e\u8ee2\u7528\u7814\u7a76<\/strong>\uff1a\u99c6\u866b\u85ac\u30cb\u30af\u30ed\u30b5\u30df\u30c9\uff08Niclosamide\uff09\u304c\u4e00\u4f8b\u3067\u8a66\u9a13\u3055\u308c\u305f\u304c\u3001\u660e\u78ba\u306a\u81e8\u5e8a\u7684\u30fb\u751f\u5316\u5b66\u7684\u6539\u5584\u306f\u8a8d\u3081\u3089\u308c\u306a\u304b\u3063\u305f\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u6cbb\u7642\u30fb\u9175\u7d20\u88dc\u5145\u7642\u6cd5\uff08ERT\uff09<\/strong>\uff1a\u73fe\u5728\u3001<strong>\u7814\u7a76\u6bb5\u968e<\/strong>\u3067\u3042\u308a\u81e8\u5e8a\u4f7f\u7528\u306b\u306f\u81f3\u3063\u3066\u3044\u306a\u3044\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>ACOX1\u6b20\u640d\u75c7\u306e\u4e88\u5f8c\u306f<strong>\u53b3\u3057\u304f<\/strong>\u3001\u4ee5\u4e0b\u306e\u7d4c\u904e\u3092\u305f\u3069\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u795e\u7d4c\u75c7\u72b6\u306e\u91cd\u7be4\u5316<\/strong>\uff08\u904b\u52d5\u30fb\u8a8d\u77e5\u6a5f\u80fd\u306e\u55aa\u5931\uff09<\/li>\n\n\n\n<li><strong>\u767d\u8cea\u75c5\u5909\u306e\u9032\u884c<\/strong>\uff08\u6a5f\u80fd\u4f4e\u4e0b\u306b\u3064\u306a\u304c\u308b\uff09<\/li>\n\n\n\n<li><strong>\u77ed\u547d<\/strong>\uff08\u6b7b\u4ea1\u5e74\u9f62\u306e\u4e2d\u592e\u5024\u306f5\u301c10\u6b73\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u65e9\u671f\u304b\u3089\u306e<strong>\u5305\u62ec\u7684\u306a\u5bfe\u75c7\u7642\u6cd5<\/strong>\u306b\u3088\u308a\u3001\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u306e\u6539\u5584\u306f\u53ef\u80fd\u3067\u3059\u304c\u3001\u75c5\u6c17\u306e\u9032\u884c\u3092\u6b62\u3081\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002\u4eca\u5f8c\u306e\u7814\u7a76\u306b\u3088\u308a\u3001\u65b0\u305f\u306a\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u304c\u6c42\u3081\u3089\u308c\u3066\u3044\u307e\u3059<\/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.braindev.2020.10.011\">Morita, A., Enokizono, T., Ohto, T., Tanaka, M., Watanabe, S., Takada, Y., Iwama, K., Mizuguchi, T., Matsumoto, N., Morita, M., Takashima, S., Shimozawa, N., &amp; Takada, H. (2021). Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency. <em>Brain and Development<\/em>, <em>43<\/em>(3), 475\u2013481. https:\/\/doi.org\/10.1016\/j.braindev.2020.10.011<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ymgme.2024.108581\">Moreau, C., Paquot, A., Ares, G. S., Dessein, A.-F., Deprez, B., Beghyn, T., &amp; Dobbelaere, D. (2024). Findings from the individualized management of a patient with Acyl-CoA Oxidase-1 (Acox1) deficiency: A bedside-to-bench-to-bedside strategy. <em>Molecular Genetics and Metabolism<\/em>, <em>143<\/em>(3), 108581. https:\/\/doi.org\/10.1016\/j.ymgme.2024.108581<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s00438-023-02059-5\">Kashyap, I., Deb, R., Battineni, A. <em>et al.<\/em> Acyl CoA oxidase: from its expression, structure, folding, and import to its role in human health and disease. <em>Mol Genet Genomics<\/em> <strong>298<\/strong>, 1247\u20131260 (2023). https:\/\/doi.org\/10.1007\/s00438-023-02059-5<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/978-3-319-66816-1_1867-1\">Khattar, G. <em>et al.<\/em> (2024). Peroxisomal Acyl-Coa Oxidase Deficiency. In: Rezaei, N. (eds) Genetic Syndromes. Springer, Cham. https:\/\/doi.org\/10.1007\/978-3-319-66816-1_1867-1<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/ijms241914857\">Szrok-Jurga, S., Czumaj, A., Turyn, J., Hebanowska, A., Swierczynski, J., Sledzinski, T., &amp; Stelmanska, E. (2023). The physiological and pathological role of acyl-coa oxidation. <em>International Journal of Molecular Sciences<\/em>, <em>24<\/em>(19), 14857. https:\/\/doi.org\/10.3390\/ijms241914857<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.24911\/ejmcr\/173-1608540583\">Lakshmi Naga, D. M., Bhuwalka, R., Sunitha, T., Nallari, P., &amp; Ananthapur, V. (2021). Peroxisomal acyl CoA oxidase deficiency: A rare inherited disorder of nervous system. <em>European Journal of Medical Case Reports<\/em>, <em>5<\/em>(9). https:\/\/doi.org\/10.24911\/ejmcr\/173-1608540583<\/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>ACOX1, Acyl-CoA Oxidase I Deficiency, \u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0, \u03b2\u9178\u5316, \u6975\u9577\u9396\u8102\u80aa\u9178, VLCFA, Pseudoadrenoleukodystrophy, Pseudo-NALD, Pseudoneonatal Adrenoleukodystrophy, \u9032\u884c\u6027\u795e\u7d4c\u5909\u6027, \u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d, \u3051\u3044\u308c\u3093, \u7b4b\u7dca\u5f35\u4f4e\u4e0b, \u767a\u9054\u9045\u6ede, \u767d\u8cea\u7570\u5e38, \u907a\u4f1d\u5b50\u5909\u7570, \u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38, \u9175\u7d20\u6b20\u640d\u75c7<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":28,"template":"page_gd.php","class_list":["post-33552","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\/33552","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":9,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33552\/revisions"}],"predecessor-version":[{"id":127659,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33552\/revisions\/127659"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33552"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}