{"id":121911,"date":"2026-01-07T18:35:45","date_gmt":"2026-01-07T09:35:45","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=121911"},"modified":"2026-03-03T17:38:20","modified_gmt":"2026-03-03T08:38:20","slug":"medium-chain-acyl-coa-dehydrogenase-deficiency-acadm","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/medium-chain-acyl-coa-dehydrogenase-deficiency-acadm\/","title":{"rendered":"\u4e2d\u9396\u30a2\u30b7\u30eb-CoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u4e4f\u75c7"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u6982\u8981<\/strong><\/h2>\n\n\n\n<p>\u4e2d\u9396\u30a2\u30b7\u30eb-CoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u4e4f\u75c7\uff08MCAD\u6b20\u4e4f\u75c7\uff09\u306f\u3001<strong>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u8102\u80aa\u9178\u03b2\u9178\u5316\u306e\u4ee3\u8b1d\u7570\u5e38<\/strong>\u306b\u3088\u308a\u3001\u4f53\u304c\u8102\u80aa\u304b\u3089\u52b9\u7387\u3088\u304f\u30a8\u30cd\u30eb\u30ae\u30fc\u3092\u4f5c\u308c\u306a\u304f\u306a\u308b\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002\u7279\u306b <strong>\u7a7a\u8179\u6642\u3084\u611f\u67d3\u306a\u3069\u306e\u30b9\u30c8\u30ec\u30b9\u6642<\/strong> \u306b\u3001\u8102\u80aa\u9178\u3092\u30a8\u30cd\u30eb\u30ae\u30fc\u6e90\u3068\u3057\u3066\u5229\u7528\u3067\u304d\u306a\u3044\u305f\u3081\u3001\u4f4e\u8840\u7cd6\u3084\u30a8\u30cd\u30eb\u30ae\u30fc\u4e0d\u8db3\u304c\u6025\u901f\u306b\u9032\u884c\u3057\u307e\u3059\u3002MCAD \u6b20\u4e4f\u75c7\u306f\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u5bfe\u8c61\u75be\u60a3\u3068\u306a\u308a\u3001\u65e9\u671f\u8a3a\u65ad\u30fb\u7ba1\u7406\u304c\u53ef\u80fd\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/?utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u75ab\u5b66<\/strong><\/h2>\n\n\n\n<p>MCAD \u6b20\u4e4f\u75c7\u306f <strong>\u6bd4\u8f03\u7684\u7a00\u306a\u4ee3\u8b1d\u7570\u5e38\u75be\u60a3<\/strong> \u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30a2\u30e1\u30ea\u30ab\u3067\u306f\u51fa\u751f\u7d04 <strong>1\/17,000 \u7a0b\u5ea6<\/strong> \u3068\u63a8\u5b9a\u3055\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/www.wadsworth.org\/public-health-programs\/newborn-screening\/newborn-screening-program\/medium-chain-acyl-coa-dehydrogenase-mcad-deficiency?utm_source=chatgpt.com\">wadsworth.org<\/a>)<\/li>\n\n\n\n<li>\u5317\u6b27\u30fb\u5317\u30e8\u30fc\u30ed\u30c3\u30d1\u7956\u5148\u306b\u591a\u3044\u3068\u3055\u308c\u3001\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u5909\u7570\uff08\u4f8b\uff1ac.985A&gt;G\uff09\u306e\u4fdd\u56e0\u983b\u5ea6\u3082\u9ad8\u3044\u96c6\u56e3\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1424\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li>\u65e5\u672c\u3092\u542b\u3080\u30a2\u30b8\u30a2\u5730\u57df\u3067\u3082\u5831\u544a\u304c\u3042\u308a\u3001\u5730\u57df\u306b\u3088\u3063\u3066\u7570\u306a\u308b\u5909\u7570\u304c\u307f\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1424\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u75c5\u56e0<\/strong><\/h3>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001<strong>ACADM \u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570<\/strong>\u306b\u3088\u308a\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u3067 <strong>\u4e2d\u9396\u30a2\u30b7\u30eb-CoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\uff08MCAD\uff09\u9175\u7d20<\/strong> \u304c\u6b20\u640d\u307e\u305f\u306f\u4f4e\u6d3b\u6027\u306b\u306a\u308b\u3053\u3068\u304c\u539f\u56e0\u3067\u3059\u3002MCAD \u306f\u3001\u70ad\u7d20\u6570 6\u301c12 \u306e\u4e2d\u9396\u8102\u80aa\u9178\u306e \u03b2 \u9178\u5316\u3067\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002 (<a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/medium-chain-acyl-coa-dehydrogenase-deficiency\/?utm_source=chatgpt.com\">\u30e1\u30c9\u30e9\u30a4\u30f3\u30d7\u30e9\u30b9<\/a>)<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u907a\u4f1d\u5f62\u5f0f<\/strong><\/h3>\n\n\n\n<p>\u75be\u60a3\u306f <strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/strong> \u3067\u3059\u3002\u4e21\u89aa\u304b\u3089\u305d\u308c\u305e\u308c\u75c5\u7684\u5909\u7570\u3092\u53d7\u3051\u7d99\u3044\u3060\u5834\u5408\u306b\u5b50\u3069\u3082\u304c\u767a\u75c7\u3057\u3001\u4fdd\u56e0\u8005\u306f\u901a\u5e38\u7121\u75c7\u72b6\u3067\u3059\u3002 (<a href=\"https:\/\/www.rareportal.org.au\/rare-disease\/medium-chain-acyl-coa-dehydrogenase-mcad-deficiency\/?utm_source=chatgpt.com\">Rare Awareness Rare Education Portal<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u75c7\u72b6<\/strong><\/h2>\n\n\n\n<p>MCAD \u6b20\u4e4f\u75c7\u306f\u3001\u4ee3\u8b1d\u30b9\u30c8\u30ec\u30b9\u6761\u4ef6\uff08\u7a7a\u8179\u30fb\u767a\u71b1\u30fb\u611f\u67d3\u306a\u3069\uff09\u3067\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u75c7\u72b6\u304c\u6025\u306b\u73fe\u308c\u308b\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u8840\u7cd6\uff08Hypoketotic hypoglycemia\uff09<\/strong>\uff1a\u8102\u80aa\u304b\u3089\u306e\u30b1\u30c8\u30f3\u4f53\u751f\u6210\u304c\u3067\u304d\u306a\u3044\u305f\u3081\u8d77\u3053\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/en.wikipedia.org\/wiki\/Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency?utm_source=chatgpt.com\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/a>)<\/li>\n\n\n\n<li>\u5614\u5410\u30fb\u7121\u6c17\u529b\u30fb\u3075\u3089\u3064\u304d<\/li>\n\n\n\n<li><strong>\u3051\u3044\u308c\u3093\u3001\u610f\u8b58\u969c\u5bb3<\/strong><\/li>\n\n\n\n<li>\u6025\u6027\u809d\u969c\u5bb3\u3001\u660f\u7761\u3001\u6709\u5bb3\u7269\u8cea\u84c4\u7a4d<\/li>\n\n\n\n<li><strong>\u4e73\u5e7c\u5150\u7a81\u7136\u6b7b\u75c7\u5019\u7fa4\uff08SIDS\uff09\u306e\u4e00\u56e0<\/strong> \u3068\u3055\u308c\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_03_045\/?utm_source=chatgpt.com\">shouman.jp<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u75c7\u72b6\u306f\u751f\u5f8c\u6570\u304b\u6708\u301c\u5e7c\u5150\u671f\u306b\u6700\u3082\u767a\u73fe\u3057\u3084\u3059\u3044\u3067\u3059\u304c\u3001<strong>\u6210\u4eba\u3067\u3082\u767a\u75c7\u4f8b\u304c\u5831\u544a<\/strong>\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK560837\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad<\/strong><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u306f\u3001\u81e8\u5e8a\u75c7\u72b6\u30fb\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u30fb\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>1. \u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30bf\u30f3\u30c7\u30e0\u8cea\u91cf\u5206\u6790\uff08MS\/MS\uff09\u3067\u8840\u6f3f\u4e2d\u306e\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\uff08\u7279\u306b C8\uff09\u304c\u7570\u5e38\u4e0a\u6607\u3059\u308b\u3053\u3068\u3067\u691c\u51fa\u3055\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/www.wadsworth.org\/public-health-programs\/newborn-screening\/newborn-screening-program\/medium-chain-acyl-coa-dehydrogenase-mcad-deficiency?utm_source=chatgpt.com\">wadsworth.org<\/a>)<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>2. \u751f\u5316\u5b66\u691c\u67fb<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4f4e\u8840\u7cd6\u3001\u4f4e\u30b1\u30c8\u30f3\u8840\u75c7\u3001\u7570\u5e38\u306a\u6709\u6a5f\u9178\u8840\u75c7<\/li>\n\n\n\n<li>\u8840\u4e2d\u30ab\u30eb\u30cb\u30c1\u30f3\u4f4e\u5024<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>3. \u907a\u4f1d\u5b50\u691c\u67fb<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>ACADM \u907a\u4f1d\u5b50\u89e3\u6790<\/strong>\uff1a\u75c5\u7684\u5909\u7570\u306e\u540c\u5b9a\u306b\u3088\u308a\u78ba\u5b9a\u8a3a\u65ad\u3002 (<a href=\"https:\/\/medlineplus.gov\/genetics\/gene\/acadm\/?utm_source=chatgpt.com\">\u30e1\u30c9\u30e9\u30a4\u30f3\u30d7\u30e9\u30b9<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642<\/strong><\/h2>\n\n\n\n<p>MCAD \u6b20\u4e4f\u75c7\u306f\u3001\u6839\u6cbb\u7642\u6cd5\u3067\u306f\u306a\u304f <strong>\u767a\u75c7\u4e88\u9632\u3068\u5371\u6a5f\u6642\u306e\u7ba1\u7406<\/strong> \u304c\u57fa\u672c\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u767a\u75c7\u4e88\u9632<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9577\u6642\u9593\u306e\u7d76\u98df\u3092\u907f\u3051\u308b<\/strong>\uff1a\u983b\u56de\u306e\u6388\u4e73\u30fb\u98df\u4e8b<\/li>\n\n\n\n<li><strong>\u611f\u67d3\u30fb\u30b9\u30c8\u30ec\u30b9\u6642\u306e\u5bfe\u5fdc<\/strong>\uff1a\u7a4d\u6975\u7684\u306a\u30a8\u30cd\u30eb\u30ae\u30fc\u88dc\u7d66<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u6025\u6027\u6642\u306e\u5bfe\u5fdc<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4f4e\u8840\u7cd6\u30fb\u4f4e\u30b1\u30c8\u30f3\u8840\u75c7\u6642\u306e <strong>\u30b0\u30eb\u30b3\u30fc\u30b9\u88dc\u7d66\uff08\u70b9\u6ef4\u306a\u3069\uff09<\/strong><\/li>\n\n\n\n<li>\u96fb\u89e3\u8cea\u30fb\u4ee3\u8b1d\u7570\u5e38\u306e\u88dc\u6b63<\/li>\n\n\n\n<li>\u533b\u7642\u6a5f\u95a2\u3067\u306e\u53b3\u91cd\u306a\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3068\u652f\u6301\u7642\u6cd5<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u9577\u671f\u7ba1\u7406<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u611f\u67d3\u3084\u624b\u8853\u306a\u3069\u30a8\u30cd\u30eb\u30ae\u30fc\u9700\u8981\u304c\u9ad8\u307e\u308b\u72b6\u6cc1\u3067\u306f\u3001\u4e8b\u524d\u306b\u533b\u7642\u30c1\u30fc\u30e0\u3068\u8a08\u753b<\/li>\n\n\n\n<li>\u5bb6\u65cf\u30fb\u5b66\u6821\u306a\u3069\u3067\u306e\u300e<strong>\u7dca\u6025\u6642\u5bfe\u5fdc\u30ab\u30fc\u30c9<\/strong>\u300f\u306e\u6e96\u5099\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/en.wikipedia.org\/wiki\/Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency?utm_source=chatgpt.com\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u9069\u5207\u306a\u7ba1\u7406\u3068\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306b\u3088\u308a\u3001\u591a\u304f\u306e\u60a3\u8005\u306f <strong>\u5408\u4f75\u75c7\u306a\u304f\u5065\u5eb7\u306b\u6210\u9577<\/strong>\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002 (<a href=\"https:\/\/www.e-lactancia.org\/media\/papers\/Medium-Chain_Acyl-Coenzyme_A_Dehydrogenase_Deficiency_-_GeneReviews_2015.pdf?utm_source=chatgpt.com\">e-lactancia.org<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e\u5143<\/strong><\/h2>\n\n\n\n<p>\u4ee5\u4e0b\u306e\u6587\u732e\u30fb\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3092\u672c\u30da\u30fc\u30b8\u306e\u4f5c\u6210\u306b\u53c2\u7167\u3057\u307e\u3057\u305f\uff1a<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Hiro Clinic \u2014 <em>\u4e2d\u9396\u30a2\u30b7\u30ebCoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\uff08MCADD\uff09 \u6982\u8981<\/em>\u3002\u65e5\u672c\u8a9e\u89e3\u8aac\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/?utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/li>\n\n\n\n<li>\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc \u2014 <em>\u4e2d\u9396\u30a2\u30b7\u30ebCoA\u8131\u6c34\u7d20\u9175\u7d20\u6b20\u640d\u75c7 \u89e3\u8aac<\/em>\u3002\u81e8\u5e8a\u50cf\u30fb\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3002 (<a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_03_045\/?utm_source=chatgpt.com\">shouman.jp<\/a>)<\/li>\n\n\n\n<li>NCBI Bookshelf \u2014 <em>Medium-Chain Acyl-CoA Dehydrogenase Deficiency<\/em>\uff08\u6d77\u5916GeneReviews \u6982\u8981\uff09\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK560837\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li>MedlinePlus Genetics \u2014 <em>ACADM gene<\/em>\uff08\u907a\u4f1d\u5b50\u6a5f\u80fd\u30fb\u75c5\u614b\uff09\u3002 (<a href=\"https:\/\/medlineplus.gov\/genetics\/gene\/acadm\/?utm_source=chatgpt.com\">\u30e1\u30c9\u30e9\u30a4\u30f3\u30d7\u30e9\u30b9<\/a>)<\/li>\n\n\n\n<li>Wikipedia \u2014 <em>Medium-chain acyl-coenzyme A dehydrogenase deficiency<\/em>\uff08\u75c7\u72b6\u30fb\u6cbb\u7642\u4e88\u9632\uff09\u3002 (<a href=\"https:\/\/en.wikipedia.org\/wiki\/Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency?utm_source=chatgpt.com\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/a>)<\/li>\n\n\n\n<li>Rare Disease Portal \u2014 <em>MCAD deficiency case &amp; genetics<\/em>\uff08\u5909\u7570\u3068\u81e8\u5e8a\u5831\u544a\uff09\u3002 (<a href=\"https:\/\/rarediseases.org\/rare-diseases\/medium-chain-acyl-coa-dehydrogenase-deficiency\/?utm_source=chatgpt.com\">National Organization for Rare Disorders<\/a>)<\/li>\n<\/ol>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-121911","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\/121911","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":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/121911\/revisions"}],"predecessor-version":[{"id":125306,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/121911\/revisions\/125306"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121911"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}