{"id":101084,"date":"2025-06-12T14:07:58","date_gmt":"2025-06-12T05:07:58","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=101084"},"modified":"2026-03-04T11:57:40","modified_gmt":"2026-03-04T02:57:40","slug":"mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/","title":{"rendered":"\u4e2d\u9396\u30a2\u30b7\u30ebCoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\u3010ACADM\u3011"},"content":{"rendered":"\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"border: 4px solid #e9e4f5; background-color: #fcfbff; border-radius: 12px; padding: 1.5rem; margin: 1.5rem 0 2.5rem; font-family: 'Helvetica Neue', sans-serif; line-height: 1.6; box-shadow: 0 2px 8px rgba(0, 0, 0, 0.03);\">\n  <div id=\"ez-toc-container\" class=\"ez-toc-v2_0_83 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/#%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E3%81%BE%E3%81%A8%E3%82%81\" >\u3084\u3055\u3057\u3044\u307e\u3068\u3081<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E9%A0%98%E5%9F%9F_Implicated_Genomic_Region\" >\u907a\u4f1d\u5b50\u9818\u57df | Implicated Genomic Region<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/#%E7%96%BE%E6%82%A3%E5%90%8D_Disorder\" >\u75be\u60a3\u540d | Disorder<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/#%E6%A6%82%E8%A6%81_Overview\" >\u6982\u8981 | Overview<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/#%E7%96%AB%E5%AD%A6_Epidemiology\" >\u75ab\u5b66 | Epidemiology<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/#%E7%97%85%E5%9B%A0_Etiology\" >\u75c5\u56e0 | Etiology<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/#%E7%97%87%E7%8A%B6_Symptoms\" >\u75c7\u72b6 | Symptoms<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/#%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\" >\u4e3b\u306a\u75c7\u72b6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/#%E9%95%B7%E6%9C%9F%E7%9A%84%E3%81%AA%E5%BD%B1%E9%9F%BF\" >\u9577\u671f\u7684\u306a\u5f71\u97ff<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/#%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD_Testing_Diagnosis\" >\u691c\u67fb\u30fb\u8a3a\u65ad | Testing &amp; Diagnosis<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/#%E6%96%B0%E7%94%9F%E5%85%90%E3%83%9E%E3%82%B9%E3%82%B9%E3%82%AF%E3%83%AA%E3%83%BC%E3%83%8B%E3%83%B3%E3%82%B0%EF%BC%88NBS%EF%BC%89\" >\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff08NBS\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/#%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%E3%81%AE%E3%81%9F%E3%82%81%E3%81%AE%E6%A4%9C%E6%9F%BB\" >\u78ba\u5b9a\u8a3a\u65ad\u306e\u305f\u3081\u306e\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/#%E5%BF%85%E8%A6%81%E3%81%AB%E5%BF%9C%E3%81%98%E3%81%A6\" >\u5fc5\u8981\u306b\u5fdc\u3058\u3066<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/#%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%A8%E7%AE%A1%E7%90%86_Treatment_Management\" >\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/#%E6%80%A5%E6%80%A7%E6%9C%9F%EF%BC%88%E7%97%87%E7%8A%B6%E3%81%8C%E5%87%BA%E3%81%9F%E3%81%A8%E3%81%8D%EF%BC%89%E3%81%AE%E5%AF%BE%E5%BF%9C\" >\u6025\u6027\u671f\uff08\u75c7\u72b6\u304c\u51fa\u305f\u3068\u304d\uff09\u306e\u5bfe\u5fdc<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/#%E6%97%A5%E5%B8%B8%E3%81%AE%E7%AE%A1%E7%90%86\" >\u65e5\u5e38\u306e\u7ba1\u7406<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/#%E4%BA%88%E5%BE%8C_Prognosis\" >\u4e88\u5f8c | Prognosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\" >\u5f15\u7528\u6587\u732e\uff5cReferences<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/#%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\" >\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/a><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top: 0; margin-bottom: 0.75rem; font-size: 1.25rem; color: #7e6cae; text-align: left; border: none; border-bottom: none; padding-bottom: 0; display: block;\"><span class=\"ez-toc-section\" id=\"%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E3%81%BE%E3%81%A8%E3%82%81\"><\/span>\u3084\u3055\u3057\u3044\u307e\u3068\u3081<span class=\"ez-toc-section-end\"><\/span><\/h2>\n  <p style=\"margin: 0; font-size: 1rem; color: #444;\">\n<p>\n\u3053\u306e\u30da\u30fc\u30b8\u3067\u306f\u3001<strong>\u4e2d\u9396\u30a2\u30b7\u30ebCoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\uff08MCADD\uff09<\/strong>\u3068\u3044\u3046<br>\n\u751f\u307e\u308c\u3064\u304d\u8102\u80aa\u3092\u30a8\u30cd\u30eb\u30ae\u30fc\u306b\u5909\u3048\u308b\u306e\u304c\u96e3\u3057\u304f\u306a\u308b\u75c5\u6c17\u306b\u3064\u3044\u3066\u3001<br>\n\u3054\u5bb6\u65cf\u306e\u65b9\u306b\u3082\u308f\u304b\u308a\u3084\u3059\u304f\u3001\u3084\u3055\u3057\u304f\u3054\u8aac\u660e\u3057\u3066\u3044\u307e\u3059\u3002<br><br>\n\n\u7279\u306b\u3001\u8d64\u3061\u3083\u3093\u3084\u5c0f\u3055\u306a\u304a\u5b50\u3055\u307e\u304c<strong>\u7a7a\u8179\u6642\u3084\u767a\u71b1\u3001\u611f\u67d3\u75c7<\/strong>\u306a\u3069\u3067<br>\n\u4f4e\u8840\u7cd6\u3084\u3051\u3044\u308c\u3093\u3092\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u3001\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<br><br>\n\n\u3053\u306e\u75c5\u6c17\u306e<strong>\u539f\u56e0\u3001\u75c7\u72b6\u3001\u691c\u67fb\u3001\u6cbb\u7642\u3001\u65e5\u5e38\u751f\u6d3b\u3067\u306e\u6ce8\u610f\u70b9<\/strong>\u306b\u3064\u3044\u3066\u3001<br>\n\u533b\u5b66\u7684\u306a\u6b63\u78ba\u3055\u3092\u4fdd\u3061\u306a\u304c\u3089\u3001\u8aad\u307f\u3084\u3059\u3044\u8a00\u8449\u3067\u307e\u3068\u3081\u3066\u3044\u307e\u3059\u3002<br><br>\n\n\u304a\u5b50\u3055\u307e\u306e\u5065\u5eb7\u306b\u4e0d\u5b89\u3092\u611f\u3058\u3066\u3044\u308b\u4fdd\u8b77\u8005\u306e\u65b9\u3001<br>\n\u307e\u305f\u5c02\u9580\u7684\u77e5\u8b58\u3092\u5fc5\u8981\u3068\u3059\u308b\u533b\u7642\u95a2\u4fc2\u8005\u306e\u65b9\u306b\u3082\u5f79\u7acb\u3064\u5185\u5bb9\u3067\u3059\u3002\n<\/p>\n  <\/p>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E9%A0%98%E5%9F%9F_Implicated_Genomic_Region\"><\/span>\u907a\u4f1d\u5b50\u9818\u57df | Implicated Genomic Region<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><strong>ACADM<\/strong><\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"25\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/hgtIdeo_genome_324717_a56de0-1024x25.png\" alt=\"ACADM\" class=\"wp-image-101087\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001ACADM\uff08Acyl-CoA Dehydrogenase, Medium-Chain\uff09\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u7570\uff08\u3078\u3093\u3044\uff09\u306b\u3088\u3063\u3066\u8d77\u3053\u308a\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u30011\u756a\u67d3\u8272\u4f53\u306ep31.1\u3068\u3044\u3046\u5834\u6240\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>ACADM\u907a\u4f1d\u5b50\u306f\u3001\u4e2d\u9396\u30a2\u30b7\u30ebCoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\uff08Medium-Chain Acyl-CoA Dehydrogenase\u3001MCAD\uff09\u3068\u3044\u3046\u9175\u7d20\u3092\u4f5c\u308b\u305f\u3081\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u3053\u306e\u9175\u7d20\u306f\u3001\u4f53\u306e\u7d30\u80de\u306e\u4e2d\u306b\u3042\u308b\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\uff08mitochondria\uff09\u3068\u3044\u3046\u5c0f\u3055\u306a\u300c\u767a\u96fb\u6240\u300d\u306e\u3088\u3046\u306a\u69cb\u9020\u3067\u50cd\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>MCAD\u9175\u7d20\u306f\u3001\u4e2d\u304f\u3089\u3044\u306e\u9577\u3055\uff08\u70ad\u7d20\u65706\u301c12\uff09\u306e\u8102\u80aa\u9178\uff08fatty acids\uff09\u3092\u5206\u89e3\u3057\u3066\u30a8\u30cd\u30eb\u30ae\u30fc\u306b\u5909\u3048\u308b\u300c\u03b2\u9178\u5316\uff08\u30d9\u30fc\u30bf\u3055\u3093\u304b\uff09\u300d\u3068\u3044\u3046\u50cd\u304d\u306e\u6700\u521d\u306e\u30b9\u30c6\u30c3\u30d7\u306b\u95a2\u308f\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff08autosomal recessive inheritance\uff09\u3067\u907a\u4f1d\u3057\u307e\u3059\u3002\u3064\u307e\u308a\u3001\u4e21\u89aa\u304b\u3089\u305d\u308c\u305e\u308c1\u3064\u305a\u3064\u75c5\u6c17\u306e\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u53d6\u3063\u305f\u5834\u5408\u306b\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/metachromatic-leukodystrophy-arsa-overview\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30e1\u30bf\u30af\u30ed\u30de\u30c1\u30c3\u30af\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08\u30a2\u30ea\u30eb\u30b9\u30eb\u30d5\u30a1\u30bf\u30fc\u30bcA\u6b20\u640d\u75c7\uff09\u3010ARSA\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u30e1\u30bf\u30af\u30ed\u30de\u30c1\u30c3\u30af\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08MLD\uff09\u306f\u3001\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u539f\u56e0\u30fb\u75c7\u72b6\u30fb\u691c\u67fb\u30fb\u6cbb\u7642\u3092\u5c02\u9580\u7684\u304b\u3064\u3084\u3055\u3057\u304f\u3054\u7d39\u4ecb\u3057\u307e\u3059\u3002\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E6%82%A3%E5%90%8D_Disorder\"><\/span>\u75be\u60a3\u540d | Disorder<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306e\u6b63\u5f0f\u306a\u540d\u524d\u306f<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e2d\u9396\u30a2\u30b7\u30ebCoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\uff08MCADD\uff09<\/li>\n\n\n\n<li>\u82f1\u8a9e\u540d\uff1aMedium-Chain Acyl-CoA Dehydrogenase Deficiency\uff08\u7565\u79f0\uff1aMCADD\uff09<\/li>\n\n\n\n<li>\u4ed6\u306e\u547c\u3073\u540d\n<ul class=\"wp-block-list\">\n<li>MCAD\u6b20\u640d\u75c7<\/li>\n\n\n\n<li>ACADM\u6b20\u640d\u75c7<\/li>\n\n\n\n<li>\u4e2d\u9396\u8102\u80aa\u9178\u9178\u5316\u969c\u5bb3<\/li>\n\n\n\n<li>\u4e8c\u6b21\u6027\u30ab\u30eb\u30cb\u30c1\u30f3\u6b20\u4e4f\u75c7\uff08MCADD\u306b\u3088\u308b\uff09<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u300c\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8102\u80aa\u9178\u9178\u5316\u969c\u5bb3\uff08mitochondrial fatty acid oxidation disorder\uff09\u300d\u3068\u3044\u3046\u5206\u985e\u306b\u542b\u307e\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81_Overview\"><\/span>\u6982\u8981 | Overview<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u4e2d\u9396\u30a2\u30b7\u30ebCoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\uff08MCADD\uff09\u306f\u3001\u8102\u80aa\u3092\u30a8\u30cd\u30eb\u30ae\u30fc\u306b\u5909\u3048\u308b\u50cd\u304d\u304c\u3046\u307e\u304f\u3044\u304b\u306a\u304f\u306a\u308b\u5148\u5929\u6027\uff08\u751f\u307e\u308c\u3064\u304d\u306e\uff09\u4ee3\u8b1d\u7570\u5e38\u3067\u3059\u3002\u7279\u306b\u3001\u98df\u4e8b\u3092\u53d6\u3089\u305a\u306b\u3044\u308b\u6642\u9593\uff08\u65ad\u98df\u3084\u7a7a\u8179\uff09\u3084\u98a8\u90aa\u306a\u3069\u306e\u75c5\u6c17\u306e\u3068\u304d\u306b\u554f\u984c\u304c\u8d77\u3053\u308a\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u6765\u3001\u8102\u80aa\u306f\u809d\u81d3\u3067\u5206\u89e3\u3055\u308c\u3066\u300c\u30b1\u30c8\u30f3\u4f53\uff08ketone bodies\uff09\u300d\u3084\u300c\u30a2\u30bb\u30c1\u30ebCoA\uff08acetyl-CoA\uff09\u300d\u306b\u306a\u308a\u3001\u3053\u308c\u304c\u4f53\u306e\u30a8\u30cd\u30eb\u30ae\u30fc\u306b\u306a\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u3053\u306e\u75c5\u6c17\u3067\u306f\u3001\u4e2d\u304f\u3089\u3044\u306e\u9577\u3055\u306e\u8102\u80aa\u9178\u3092\u5206\u89e3\u3059\u308b\u9175\u7d20\uff08MCAD\uff09\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u3044\u305f\u3081\u3001\u30b1\u30c8\u30f3\u4f53\u304c\u4f5c\u308c\u305a\u3001\u30a8\u30cd\u30eb\u30ae\u30fc\u4e0d\u8db3\u3084\u6709\u5bb3\u306a\u7269\u8cea\u306e\u84c4\u7a4d\u304c\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u65e9\u671f\u306b\u767a\u898b\u3057\u3066\u9069\u5207\u306b\u7ba1\u7406\u3059\u308c\u3070\u3001\u5065\u5eb7\u306b\u6210\u9577\u3059\u308b\u3053\u3068\u3082\u53ef\u80fd\u306a\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%AB%E5%AD%A6_Epidemiology\"><\/span>\u75ab\u5b66 | Epidemiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u4e16\u754c\u4e2d\u3067\u898b\u3089\u308c\u308b\u6bd4\u8f03\u7684\u4e00\u822c\u7684\u306a\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e16\u754c\u5168\u4f53\u306e\u767a\u75c7\u983b\u5ea6\uff1a\u304a\u3088\u305d 1\u4e078,000\u4eba\u306b1\u4eba<\/li>\n\n\n\n<li>\u30a2\u30e1\u30ea\u30ab\uff1a\u5dde\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u304c\u300113,000\u301c24,000\u4eba\u306b1\u4eba<\/li>\n\n\n\n<li>\u30e8\u30fc\u30ed\u30c3\u30d1\uff08\u7279\u306b\u5317\u6b27\u8af8\u56fd\uff09\uff1a\u3084\u3084\u9ad8\u3081\uff08\u4f8b\uff1a\u30c7\u30f3\u30de\u30fc\u30af\u3001\u30aa\u30e9\u30f3\u30c0\uff09<\/li>\n\n\n\n<li>\u65e5\u672c\u3084\u30a2\u30b8\u30a2\u8af8\u56fd\u3067\u306f\u7a00\uff085\u4e07\u301c10\u4e07\u4eba\u306b1\u4eba\u7a0b\u5ea6\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff08NBS\uff1aNewborn Screening\uff09\u306e\u5c0e\u5165\u306b\u3088\u308a\u3001\u7121\u75c7\u72b6\u306e\u3046\u3061\u306b\u767a\u898b\u3055\u308c\u308b\u30b1\u30fc\u30b9\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0_Etiology\"><\/span>\u75c5\u56e0 | Etiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001ACADM\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u3001MCAD\u9175\u7d20\u306e\u50cd\u304d\u304c\u5f31\u304f\u306a\u308b\u307e\u305f\u306f\u306a\u304f\u306a\u308b\u3053\u3068\u304c\u76f4\u63a5\u306e\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6b63\u5e38\u3067\u3042\u308c\u3070\u3001\u8102\u80aa\u9178\u3092\u5206\u89e3\u3057\u3066\u30a2\u30bb\u30c1\u30ebCoA\u3092\u4f5c\u308b\u904e\u7a0b\u304c\u3001\u7a7a\u8179\u6642\u306e\u30a8\u30cd\u30eb\u30ae\u30fc\u4f9b\u7d66\u306b\u5927\u304d\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002\u3057\u304b\u3057\u3001MCAD\u304c\u6b20\u640d\u3059\u308b\u3068\u3053\u306e\u56de\u8def\u304c\u6b62\u307e\u308a\u3001\u4ee3\u308f\u308a\u306b\u4f53\u5185\u306b\u4e2d\u9396\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\uff08medium-chain acylcarnitines\uff09\u3084\u30b8\u30ab\u30eb\u30dc\u30f3\u9178\uff08dicarboxylic acids\uff09\u306a\u3069\u306e\u7269\u8cea\u304c\u305f\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306b\u3088\u308a\u3001\u809d\u6a5f\u80fd\u306e\u969c\u5bb3\u3001\u4f4e\u8840\u7cd6\uff08\u8840\u7cd6\u5024\u306e\u7570\u5e38\u306a\u4f4e\u4e0b\uff09\u3001\u4ee3\u8b1d\u306e\u6df7\u4e71\u306a\u3069\u304c\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/cln3-juvenile-batten-disease-overview\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u82e5\u5e74\u578b\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c73\u578b\uff08CLN3\u75c5\uff09\u3010CLN3\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">CLN3\u75c5\uff08\u82e5\u5e74\u578b\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\uff09\u306f\u3001\u5b50\u3069\u3082\u306e\u3053\u308d\u304b\u3089\u8996\u529b\u306e\u4f4e\u4e0b\u304c\u59cb\u307e\u308a\u3001\u5f90\u3005\u306b\u8a8d\u77e5\u6a5f\u80fd\u3001\u904b\u52d5\u6a5f\u80fd\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u306a\u3069\u591a\u69d8\u306a\u75c7\u72b6\u304c...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6_Symptoms\"><\/span>\u75c7\u72b6 | Symptoms<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u591a\u304f\u306e\u8d64\u3061\u3083\u3093\u306f\u3001\u751f\u307e\u308c\u305f\u76f4\u5f8c\u306f\u5065\u5eb7\u306b\u898b\u3048\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u30b9\u30c8\u30ec\u30b9\uff08\u7a7a\u8179\u3001\u98a8\u90aa\u3001\u767a\u71b1\u3001\u624b\u8853\u306a\u3069\uff09\u304c\u5f15\u304d\u91d1\u306b\u306a\u308b\u3068\u3001\u6025\u6fc0\u306b\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\"><\/span>\u4e3b\u306a\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4f4e\u30b1\u30c8\u30f3\u6027\u4f4e\u8840\u7cd6\uff08hypoketotic hypoglycemia\uff09\n<ul class=\"wp-block-list\">\n<li>\u8840\u7cd6\u5024\u304c\u4e0b\u304c\u3063\u3066\u3082\u3001\u30b1\u30c8\u30f3\u4f53\u304c\u5897\u3048\u306a\u3044<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u5614\u5410\u3001\u5143\u6c17\u304c\u306a\u3044\uff08\u55dc\u7720\uff09\u3001\u3051\u3044\u308c\u3093\u3001\u660f\u7761<\/li>\n\n\n\n<li>\u809d\u81d3\u306e\u816b\u308c\uff08\u809d\u816b\u5927\uff09\u3084\u809d\u6a5f\u80fd\u969c\u5bb3<\/li>\n\n\n\n<li>\u8840\u4e2d\u30a2\u30f3\u30e2\u30cb\u30a2\u306e\u5897\u52a0\uff08\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\uff09<\/li>\n\n\n\n<li>\u7a81\u7136\u6b7b\uff08SIDS\u306e\u539f\u56e0\u3068\u306a\u308b\u3053\u3068\u3082\uff09<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%95%B7%E6%9C%9F%E7%9A%84%E3%81%AA%E5%BD%B1%E9%9F%BF\"><\/span>\u9577\u671f\u7684\u306a\u5f71\u97ff<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u306e\u9045\u308c<\/li>\n\n\n\n<li>\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\uff09<\/li>\n\n\n\n<li>\u904b\u52d5\u6642\u306e\u75b2\u308c\u3084\u3059\u3055<\/li>\n\n\n\n<li>\u7b4b\u529b\u4f4e\u4e0b<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD_Testing_Diagnosis\"><\/span>\u691c\u67fb\u30fb\u8a3a\u65ad | Testing &amp; Diagnosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%96%B0%E7%94%9F%E5%85%90%E3%83%9E%E3%82%B9%E3%82%B9%E3%82%AF%E3%83%AA%E3%83%BC%E3%83%8B%E3%83%B3%E3%82%B0%EF%BC%88NBS%EF%BC%89\"><\/span>\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff08NBS\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u73fe\u5728\u3001\u591a\u304f\u306e\u56fd\u3084\u5730\u57df\u3067\u751f\u5f8c\u6570\u65e5\u4ee5\u5185\u306e\u8840\u6db2\u691c\u67fb\u306b\u3088\u308aMCADD\u304c\u65e9\u671f\u306b\u767a\u898b\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8840\u4e2d\u306eC8\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\uff08octanoylcarnitine\uff09\u304c\u9ad8\u5024\u3067\u3042\u308b\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u4ed6\u306b\u3001C6\u3001C10\u3001C8\/C2\u6bd4\u3001C8\/C10\u6bd4\u306a\u3069\u3082\u53c2\u8003\u306b\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%E3%81%AE%E3%81%9F%E3%82%81%E3%81%AE%E6%A4%9C%E6%9F%BB\"><\/span>\u78ba\u5b9a\u8a3a\u65ad\u306e\u305f\u3081\u306e\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8840\u6db2\u4e2d\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\u306e\u5206\u6790\uff08\u7279\u306bC8\u306e\u5897\u52a0\uff09<\/li>\n\n\n\n<li>\u5c3f\u4e2d\u6709\u6a5f\u9178\u306e\u691c\u67fb\uff08\u30d8\u30ad\u30b5\u30ce\u30a4\u30eb\u30b0\u30ea\u30b7\u30f3\u306a\u3069\u304c\u5897\u3048\u308b\uff09<\/li>\n\n\n\n<li>\u30ab\u30eb\u30cb\u30c1\u30f3\u6fc3\u5ea6\u306e\u6e2c\u5b9a\uff08\u4f4e\u4e0b\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u3044\uff09<\/li>\n\n\n\n<li>\u907a\u4f1d\u5b50\u691c\u67fb\uff08ACADM\u5168\u4f53\u306e\u914d\u5217\u89e3\u6790\uff09\n<ul class=\"wp-block-list\">\n<li>\u6700\u3082\u591a\u3044\u5909\u7570\u306f c.985A&gt;G\uff08p.Lys329Glu\uff09<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BF%85%E8%A6%81%E3%81%AB%E5%BF%9C%E3%81%98%E3%81%A6\"><\/span>\u5fc5\u8981\u306b\u5fdc\u3058\u3066<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>MCAD\u9175\u7d20\u6d3b\u6027\u306e\u6e2c\u5b9a\uff08\u767d\u8840\u7403\u3084\u76ae\u819a\u7dda\u7dad\u82bd\u7d30\u80de\uff09<br>\u300025%\u672a\u6e80\u3067\u3042\u308c\u3070\u8a3a\u65ad\u78ba\u5b9a\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%A8%E7%AE%A1%E7%90%86_Treatment_Management\"><\/span>\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%80%A5%E6%80%A7%E6%9C%9F%EF%BC%88%E7%97%87%E7%8A%B6%E3%81%8C%E5%87%BA%E3%81%9F%E3%81%A8%E3%81%8D%EF%BC%89%E3%81%AE%E5%AF%BE%E5%BF%9C\"><\/span>\u6025\u6027\u671f\uff08\u75c7\u72b6\u304c\u51fa\u305f\u3068\u304d\uff09\u306e\u5bfe\u5fdc<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u75c5\u9662\u3067\u306e\u7dca\u6025\u6cbb\u7642\u304c\u5fc5\u8981\u3067\u3059<\/li>\n\n\n\n<li>\u30d6\u30c9\u30a6\u7cd6\uff08\u30b0\u30eb\u30b3\u30fc\u30b9\uff09\u306e\u70b9\u6ef4\uff0810\u301c12mg\/kg\/\u5206\uff09\u3067\u8840\u7cd6\u5024\u3092\u5b89\u5b9a\u3055\u305b\u308b<\/li>\n\n\n\n<li>\u539f\u56e0\u3068\u306a\u308b\u611f\u67d3\u75c7\u306a\u3069\u306e\u6cbb\u7642<\/li>\n\n\n\n<li>\u96fb\u89e3\u8cea\u30fb\u9178\u5869\u57fa\u30fb\u30a2\u30f3\u30e2\u30cb\u30a2\u306e\u7ba1\u7406<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%97%A5%E5%B8%B8%E3%81%AE%E7%AE%A1%E7%90%86\"><\/span>\u65e5\u5e38\u306e\u7ba1\u7406<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<h4 class=\"wp-block-heading\">1. \u98df\u4e8b\u3068\u65ad\u98df\u306e\u56de\u907f<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u65b0\u751f\u5150\uff1a2\u301c3\u6642\u9593\u3054\u3068\u306e\u6388\u4e73<\/li>\n\n\n\n<li>\u5e7c\u5150\u301c\u5b66\u7ae5\uff1a12\u6642\u9593\u4ee5\u4e0a\u306e\u65ad\u98df\u3092\u907f\u3051\u308b<\/li>\n\n\n\n<li>\u591c\u9593\uff1a\u5bdd\u308b\u524d\u306e\u30b9\u30ca\u30c3\u30af\u3084\u30b3\u30fc\u30f3\u30b9\u30bf\u30fc\u30c1\uff082g\/kg\uff09<\/li>\n\n\n\n<li>\u8102\u80aa\u306f\u5168\u30ab\u30ed\u30ea\u30fc\u306e30%\u4ee5\u5185\u3001\u901a\u5e38\u306e\u30ab\u30ed\u30ea\u30fc\u6442\u53d6\u3092\u63a8\u5968<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">2. \u30b5\u30d7\u30ea\u30e1\u30f3\u30c8<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>L-\u30ab\u30eb\u30cb\u30c1\u30f3\uff1a\u5fc5\u8981\u306b\u5fdc\u3058\u3066\uff0850\u301c100mg\/kg\/\u65e5\uff09<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">3. \u4e88\u9632<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7a7a\u8179\u3092\u907f\u3051\u308b<\/li>\n\n\n\n<li>\u4e2d\u9396\u8102\u80aa\u9178\u3092\u591a\u304f\u542b\u3080\u98df\u54c1\uff08\u30b3\u30b3\u30ca\u30c3\u30c4\u30aa\u30a4\u30eb\u306a\u3069\uff09\u3092\u907f\u3051\u308b<\/li>\n\n\n\n<li>\u30a2\u30eb\u30b3\u30fc\u30eb\u3084\u30a2\u30b9\u30d4\u30ea\u30f3\u3082\u63a7\u3048\u308b<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">4. \u30e2\u30cb\u30bf\u30ea\u30f3\u30b0<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u5150\u4ee3\u8b1d\u79d1\u3067\u306e\u5b9a\u671f\u901a\u9662\uff082\u301c3\u30f6\u6708\u3054\u3068 \u2192 \u5b89\u5b9a\u3059\u308c\u3070\u534a\u5e74\u3054\u3068\uff09<\/li>\n\n\n\n<li>\u6210\u9577\u3001\u767a\u9054\u3001\u884c\u52d5\u3001\u30ab\u30eb\u30cb\u30c1\u30f3\u6fc3\u5ea6\u306e\u8a55\u4fa1<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">5. \u7dca\u6025\u5bfe\u5fdc\u8a08\u753b<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u533b\u7642\u6a5f\u95a2\u5411\u3051\u306e\u300c\u7dca\u6025\u5bfe\u5fdc\u30ab\u30fc\u30c9\u300d<\/li>\n\n\n\n<li>\u767a\u71b1\u3084\u4f53\u8abf\u4e0d\u826f\u306e\u3068\u304d\u306f\u3001\u3059\u3050\u306b\u533b\u7642\u6a5f\u95a2\u3078<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BA%88%E5%BE%8C_Prognosis\"><\/span>\u4e88\u5f8c | Prognosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u7ba1\u7406\u306b\u3088\u3063\u3066\u3001\u901a\u5e38\u901a\u308a\u306e\u767a\u9054\u3068\u751f\u6d3b\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u672a\u6cbb\u7642\u306e\u5834\u5408\uff1a\u521d\u56de\u306e\u767a\u75c7\u306720\u301c25%\u304c\u6b7b\u4ea1\u3001\u307e\u305f\u306f\u5f8c\u907a\u75c7\u304c\u6b8b\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u5f8c\u306b\u767a\u898b\u3055\u308c\u305f\u5834\u5408\uff1a\u767a\u75c7\u524d\u304b\u3089\u5bfe\u7b56\u3092\u53d6\u308c\u308b\u305f\u3081\u3001\u6b7b\u4ea1\u7387\u30fb\u5f8c\u907a\u75c7\u306e\u30ea\u30b9\u30af\u304c\u5927\u5e45\u306b\u4f4e\u4e0b\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u751f\u6daf\u306b\u308f\u305f\u308a\u7a7a\u8179\u306e\u56de\u907f\u3068\u4f53\u8abf\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\"><\/span>\u5f15\u7528\u6587\u732e\uff5cReferences<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1424\/\">Chang IJ, Lam C, Vockley J. Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. 2000 Apr 20 [Updated 2024 Sep 26]. 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\/NBK1424\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ymgme.2019.11.006\">Anderson, Daniela R., et al. \u2018Clinical and Biochemical Outcomes of Patients with Medium-Chain Acyl-CoA Dehydrogenase Deficiency\u2019. <em>Molecular Genetics and Metabolism<\/em>, vol. 129, no. 1, Jan. 2020, pp. 13\u201319. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1016\/j.ymgme.2019.11.006.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/edm2.385\">Mason, Emily, et al. \u2018Medium\u2010chain Acyl\u2010COA Dehydrogenase Deficiency: Pathogenesis, Diagnosis, and Treatment\u2019. <em>Endocrinology, Diabetes &amp; Metabolism<\/em>, vol. 6, no. 1, Jan. 2023, p. e385. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1002\/edm2.385.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.arcped.2011.10.025\">Feillet, F., et al. \u2018D\u00e9ficit en acyl-CoA-d\u00e9shydrog\u00e9nase des acides gras \u00e0 cha\u00eene moyenne (MCAD)\u202f: consensus fran\u00e7ais pour le d\u00e9pistage, le diagnostic, et la prise en charge\u2019. <em>Archives de P\u00e9diatrie<\/em>, vol. 19, no. 2, Feb. 2012, pp. 184\u201393. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1016\/j.arcped.2011.10.025.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39460617\/\">Perez G, Barber GP, Benet-Pages A, Casper J, Clawson H, Diekhans M, Fischer C, Gonzalez JN, Hinrichs AS, Lee CM, Nassar LR, Raney BJ, Speir ML, van Baren MJ, Vaske CJ, Haussler D, Kent WJ, Haeussler M. The UCSC Genome Browser database: 2025 update. Nucleic Acids Res. 2025 Jan 6;53(D1):D1243-D1249. doi: 10.1093\/nar\/gkae974. PMID: 39460617; PMCID: PMC11701590.<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\"><\/span>\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>\u4e2d\u9396\u30a2\u30b7\u30ebCoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7, MCADD, ACADM, \u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2, \u8102\u80aa\u9178\u4ee3\u8b1d\u7570\u5e38, \u4f4e\u30b1\u30c8\u30f3\u6027\u4f4e\u8840\u7cd6, \u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0, octanoylcarnitine, c.985A>G, \u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d, L-\u30ab\u30eb\u30cb\u30c1\u30f3, \u03b2\u9178\u5316, \u7a81\u7136\u6b7b\u75c7\u5019\u7fa4, \u767a\u9054\u969c\u5bb3, \u30a8\u30cd\u30eb\u30ae\u30fc\u4ee3\u8b1d, \u9175\u7d20\u6b20\u640d\u75c7, \u4ee3\u8b1d\u6027\u660f\u7761, \u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7<\/sup><\/sup><\/p>\n\n\n\n<!-- am trying to embed a JSONLD block-->\n<!-- it should work-->\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@graph\": [\n    {\n      \"@type\": \"WebPage\",\n      \"@id\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/\",\n      \"url\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/\",\n      \"name\": \"\u4e2d\u9396\u30a2\u30b7\u30ebCoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\uff08MCADD\uff09\u306e\u75c7\u72b6\u30fb\u539f\u56e0\u30fb\u691c\u67fb\u30fb\u6cbb\u7642\u3092\u89e3\u8aac\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\",\n      \"description\": \"MCADD\uff08\u4e2d\u9396\u30a2\u30b7\u30ebCoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\uff09\u306f\u3001\u8102\u80aa\u9178\u306e\u4ee3\u8b1d\u306b\u95a2\u308f\u308b\u9175\u7d20\u306e\u6b20\u640d\u306b\u3088\u308a\u3001\u7a7a\u8179\u6642\u3084\u75c5\u6c17\u306e\u3068\u304d\u306b\u30a8\u30cd\u30eb\u30ae\u30fc\u4e0d\u8db3\u304b\u3089\u4f4e\u8840\u7cd6\u3084\u4ee3\u8b1d\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3059\u75c5\u6c17\u3067\u3059\u3002\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u305d\u306e\u539f\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u3001\u6cbb\u7642\u3001\u65e5\u5e38\u7ba1\u7406\u306b\u3064\u3044\u3066\u3001\u533b\u7642\u8005\u3068\u4fdd\u8b77\u8005\u5411\u3051\u306b\u308f\u304b\u308a\u3084\u3059\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002\",\n      \"inLanguage\": \"ja\",\n      \"datePublished\": \"2025-06-12\"\n    },\n    {\n      \"@type\": \"Article\",\n      \"headline\": 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\"@type\": \"Person\",\n        \"name\": \"HUMEDIT Contents Team\"\n      },\n      \"publisher\": {\n        \"@type\": \"Organization\",\n        \"name\": \"\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\",\n        \"url\": \"https:\/\/www.hiro-clinic.or.jp\"\n      },\n      \"inLanguage\": \"ja\",\n      \"mainEntityOfPage\": {\n        \"@type\": \"WebPage\",\n        \"@id\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/\"\n      }\n    },\n    {\n      \"@type\": \"MedicalCondition\",\n      \"name\": \"\u4e2d\u9396\u30a2\u30b7\u30ebCoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\",\n      \"alternateName\": \"Medium-Chain Acyl-CoA Dehydrogenase Deficiency, MCADD\",\n      \"url\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/\",\n      \"description\": \"MCADD\u306f\u3001\u4e2d\u9396\u8102\u80aa\u9178\u3092\u4ee3\u8b1d\u3057\u3066\u30a8\u30cd\u30eb\u30ae\u30fc\u306b\u5909\u3048\u308b\u305f\u3081\u306b\u5fc5\u8981\u306a\u9175\u7d20\uff08MCAD\uff09\u304c\u4e0d\u8db3\u307e\u305f\u306f\u6b20\u640d\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u6027\u306e\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u3067\u3059\u3002\u4e3b\u306b\u7a7a\u8179\u6642\u3084\u611f\u67d3\u6642\u306b\u75c7\u72b6\u304c\u73fe\u308c\u3001\u91cd\u7be4\u306a\u5834\u5408\u306f\u660f\u7761\u3084\u7a81\u7136\u6b7b\u306b\u81f3\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\",\n      \"cause\": \"ACADM\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306b\u3088\u308a\u3001\u4e2d\u9396\u8102\u80aa\u9178\u306e\u03b2\u9178\u5316\u306b\u95a2\u308f\u308b\u9175\u7d20\uff08MCAD\uff09\u306e\u6a5f\u80fd\u304c\u4f4e\u4e0b\u307e\u305f\u306f\u6d88\u5931\u3059\u308b\u3002\",\n      \"symptom\": [\n        \"\u7a7a\u8179\u6642\u306e\u4f4e\u8840\u7cd6\",\n        \"\u5614\u5410\",\n        \"\u55dc\u7720\uff08\u5143\u6c17\u304c\u306a\u3044\uff09\",\n        \"\u3051\u3044\u308c\u3093\",\n        \"\u809d\u816b\u5927\",\n        \"\u610f\u8b58\u969c\u5bb3\",\n        \"\u7a81\u7136\u6b7b\uff08SIDS\uff09\"\n      ],\n      \"possibleTreatment\": [\n        \"\u7a7a\u8179\u3092\u907f\u3051\u308b\u983b\u56de\u306e\u98df\u4e8b\",\n        \"\u5c31\u5bdd\u524d\u306e\u8efd\u98df\u307e\u305f\u306f\u30b3\u30fc\u30f3\u30b9\u30bf\u30fc\u30c1\u6442\u53d6\",\n        \"\u611f\u67d3\u6642\u306b\u306f\u8fc5\u901f\u306a\u30d6\u30c9\u30a6\u7cd6\u6295\u4e0e\uff08\u70b9\u6ef4\uff09\",\n        \"L-\u30ab\u30eb\u30cb\u30c1\u30f3\u306e\u88dc\u5145\uff08\u5fc5\u8981\u306b\u5fdc\u3058\u3066\uff09\",\n        \"\u9ad8\u8102\u80aa\u98df\u3084MCT\u30aa\u30a4\u30eb\u306e\u56de\u907f\"\n      ],\n      \"medicalSpecialty\": {\n        \"@type\": \"MedicalSpecialty\",\n        \"name\": 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":79,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[71],"tags":[],"class_list":["post-101084","post","type-post","status-publish","format-standard","hentry","category-treatise"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/101084","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/79"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=101084"}],"version-history":[{"count":12,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/101084\/revisions"}],"predecessor-version":[{"id":125357,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/101084\/revisions\/125357"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=101084"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=101084"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=101084"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}