{"id":111963,"date":"2025-06-12T14:07:58","date_gmt":"2025-06-12T05:07:58","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/"},"modified":"2025-08-22T16:24:00","modified_gmt":"2025-08-22T07:24:00","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\/?lang=zh-hans","title":{"rendered":"\u4e2d\u94fe\u9170\u57faCoA\u8131\u6c22\u9176\u7f3a\u4e4f\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_84 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\/?lang=zh-hans\/#%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\/?lang=zh-hans\/#%E5%9F%BA%E5%9B%A0%E5%8C%BA%E5%9F%9F_%E7%9B%B8%E5%85%B3%E5%9F%BA%E5%9B%A0%E5%8C%BA%E5%9F%9F\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/?lang=zh-hans\/#%E7%97%85%E5%9B%A0\" >\u75c5\u56e0<\/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\/?lang=zh-hans\/#%E7%97%87%E7%8A%B6\" >\u75c7\u72b6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/?lang=zh-hans\/#%E6%A3%80%E6%B5%8B%E4%B8%8E%E8%AF%8A%E6%96%AD\" >\u68c0\u6d4b\u4e0e\u8bca\u65ad<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/?lang=zh-hans\/#%E6%B2%BB%E7%96%97%E4%B8%8E%E7%AE%A1%E7%90%86\" >\u6cbb\u7597\u4e0e\u7ba1\u7406<\/a><\/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\/?lang=zh-hans\/#%E9%A2%84%E5%90%8E\" >\u9884\u540e<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/?lang=zh-hans\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\" >\u5f15\u7528\u6587\u732e\uff5cReferences<\/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\u672c\u9875\u9762\u5c06\u8be6\u7ec6\u8bb2\u89e3\u4e2d\u94fe\u9170\u57faCoA\u8131\u6c22\u9176\u7f3a\u4e4f\u75c7\uff08MCADD\uff09\uff0c\u8fd9\u662f\u4e00\u79cd\u5929\u751f\u7684\u8102\u80aa\u8f6c\u5316\u4e3a\u80fd\u91cf\u7684\u56f0\u96be\u7684\u75be\u75c5\uff0c\u5185\u5bb9\u4ee5\u4fbf\u4e8e\u5bb6\u957f\u7406\u89e3\u7684\u65b9\u5f0f\u8fdb\u884c\u8bf4\u660e\uff0c\u5c24\u5176\u5173\u6ce8\u5b9d\u5b9d\u6216\u5c0f\u5b69\u5728\u9965\u997f\u3001\u53d1\u70ed\u3001\u611f\u67d3\u7b49\u60c5\u51b5\u4e0b\u53ef\u80fd\u51fa\u73b0\u7684\u4f4e\u8840\u7cd6\u6216\u62bd\u6410\u7b49\u75c7\u72b6\u3002\n\n  <\/p>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%9F%BA%E5%9B%A0%E5%8C%BA%E5%9F%9F_%E7%9B%B8%E5%85%B3%E5%9F%BA%E5%9B%A0%E5%8C%BA%E5%9F%9F\"><\/span>\u57fa\u56e0\u533a\u57df | \u76f8\u5173\u57fa\u56e0\u533a\u57df<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>\u6b64\u75c5\u7531ACADM\uff08Acyl-CoA Dehydrogenase, Medium-Chain\uff09\u57fa\u56e0\u7684\u7a81\u53d8\uff08\u53d8\u5f02\uff09\u5f15\u8d77\uff0c\u8be5\u57fa\u56e0\u4f4d\u4e8e\u7b2c1\u53f7\u67d3\u8272\u4f53\u7684p31.1\u533a\u57df\u3002<\/p>\n\n\n\n<p>ACADM\u57fa\u56e0\u8d1f\u8d23\u751f\u6210\u4e2d\u94fe\u9170\u57faCoA\u8131\u6c22\u9176\uff08Medium-Chain Acyl-CoA Dehydrogenase\uff0cMCAD\uff09\uff0c\u8be5\u9176\u5728\u7ec6\u80de\u5185\u7684\u7ebf\u7c92\u4f53\uff08mitochondria\uff09\u8fd9\u4e00\u88ab\u79f0\u4e3a\u201c\u53d1\u7535\u5382\u201d\u7684\u7ed3\u6784\u4e2d\u8d77\u4f5c\u7528\u3002<\/p>\n\n\n\n<p>MCAD\u9176\u53c2\u4e0e\u8102\u80aa\u9178\uff08\u78b3\u94fe\u957f\u5ea6\u4e3a6\u523012\u7684\u8102\u80aa\u9178\uff09\u5206\u89e3\u4e3a\u80fd\u91cf\u7684\u03b2-\u6c27\u5316\uff08Beta oxidation\uff09\u8fc7\u7a0b\u7684\u7b2c\u4e00\u6b65\u3002<\/p>\n\n\n\n<p>\u6b64\u75c5\u5c5e\u4e8e\u5e38\u67d3\u8272\u4f53\u9690\u6027\u9057\u4f20\uff08autosomal recessive inheritance\uff09\uff0c\u5373\u82e5\u7236\u6bcd\u5404\u81ea\u9057\u4f20\u4e00\u4e2a\u6709\u7f3a\u9677\u7684\u57fa\u56e0\u65f6\uff0c\u5b69\u5b50\u4f1a\u60a3\u6b64\u75c5\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E7%97%85%E5%90%8D%E7%A7%B0\"><\/span>\u75be\u75c5\u540d\u79f0<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u4e2d\u94fe\u9170\u57faCoA\u8131\u6c22\u9176\u7f3a\u4e4f\u75c7\uff08MCADD\uff09<\/p>\n\n\n\n<p>\u82f1\u6587\u540d\uff1aMedium-Chain Acyl-CoA Dehydrogenase Deficiency\uff08\u7b80\u79f0\uff1aMCADD\uff09<\/p>\n\n\n\n<p>\u5176\u4ed6\u540d\u79f0\uff1a<\/p>\n\n\n\n<p>MCAD\u7f3a\u4e4f\u75c7<\/p>\n\n\n\n<p>ACADM\u7f3a\u4e4f\u75c7<\/p>\n\n\n\n<p>\u4e2d\u94fe\u8102\u80aa\u9178\u6c27\u5316\u969c\u788d<\/p>\n\n\n\n<p>\u7ee7\u53d1\u6027\u8089\u6bd2\u78b1\u7f3a\u4e4f\u75c7\uff08\u7531MCADD\u5f15\u8d77\uff09<\/p>\n\n\n\n<p>\u6b64\u75c5\u5c5e\u4e8e\u201c\u7ebf\u7c92\u4f53\u8102\u80aa\u9178\u6c27\u5316\u969c\u788d\uff08mitochondrial fatty acid oxidation disorder\uff09\u201d\u8fd9\u4e00\u5206\u7c7b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%BF%B0\"><\/span>\u6982\u8ff0<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u4e2d\u94fe\u9170\u57faCoA\u8131\u6c22\u9176\u7f3a\u4e4f\u75c7\uff08MCADD\uff09\u662f\u4e00\u79cd\u5148\u5929\u6027\u4ee3\u8c22\u5f02\u5e38\uff0c\u5bfc\u81f4\u8102\u80aa\u8f6c\u5316\u4e3a\u80fd\u91cf\u7684\u8fc7\u7a0b\u53d1\u751f\u56f0\u96be\uff0c\u7279\u522b\u662f\u5728\u957f\u65f6\u95f4\u4e0d\u8fdb\u98df\uff08\u7981\u98df\u6216\u9965\u997f\uff09\u6216\u611f\u5192\u7b49\u75be\u75c5\u671f\u95f4\u66f4\u6613\u53d1\u751f\u95ee\u9898\u3002<\/p>\n\n\n\n<p>\u6b63\u5e38\u60c5\u51b5\u4e0b\uff0c\u8102\u80aa\u5728\u809d\u810f\u4e2d\u5206\u89e3\u751f\u6210\u916e\u4f53\uff08ketone bodies\uff09\u548c\u4e59\u9170CoA\uff08acetyl-CoA\uff09\uff0c\u8fd9\u4e9b\u7269\u8d28\u63d0\u4f9b\u8eab\u4f53\u6240\u9700\u7684\u80fd\u91cf\u3002\u7136\u800c\uff0c\u60a3\u6709\u6b64\u75c5\u65f6\uff0c\u4e2d\u94fe\u8102\u80aa\u9178\u5206\u89e3\u9176\uff08MCAD\uff09\u4e0d\u80fd\u6b63\u5e38\u5de5\u4f5c\uff0c\u5bfc\u81f4\u916e\u4f53\u65e0\u6cd5\u751f\u6210\uff0c\u5bfc\u81f4\u80fd\u91cf\u4e0d\u8db3\u548c\u6709\u5bb3\u7269\u8d28\u7684\u79ef\u7d2f\u3002<\/p>\n\n\n\n<p>\u82e5\u53ca\u65e9\u53d1\u73b0\u5e76\u8fdb\u884c\u9002\u5f53\u7684\u7ba1\u7406\uff0c\u60a3\u8005\u80fd\u591f\u5065\u5eb7\u6210\u957f\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B5%81%E8%A1%8C%E7%97%85%E5%AD%A6\"><\/span>\u6d41\u884c\u75c5\u5b66<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6b64\u75c5\u662f\u5168\u7403\u8303\u56f4\u5185\u6bd4\u8f83\u5e38\u89c1\u7684\u4e00\u79cd\u5148\u5929\u6027\u4ee3\u8c22\u5f02\u5e38\u3002<\/p>\n\n\n\n<p>\u5168\u7403\u53d1\u75c5\u7387\uff1a\u7ea6\u4e3a1\u4e078\u5343\u4eba\u4e2d1\u4eba<\/p>\n\n\n\n<p>\u7f8e\u56fd\uff1a\u6839\u636e\u5dde\u7684\u4e0d\u540c\uff0c\u53d1\u75c5\u7387\u4e3a13,000\u523024,000\u4eba\u4e2d1\u4eba<\/p>\n\n\n\n<p>\u6b27\u6d32\uff08\u7279\u522b\u662f\u5317\u6b27\u56fd\u5bb6\uff09\uff1a\u76f8\u5bf9\u8f83\u9ad8\uff08\u4f8b\u5982\uff1a\u4e39\u9ea6\u3001\u8377\u5170\uff09<\/p>\n\n\n\n<p>\u5728\u65e5\u672c\u548c\u4e9a\u6d32\u5176\u4ed6\u5730\u533a\u8f83\u4e3a\u7f55\u89c1\uff08\u7ea65\u4e07\u523010\u4e07\u4eba\u4e2d1\u4eba\uff09<\/p>\n\n\n\n<p>\u968f\u7740\u65b0\u751f\u513f\u7b5b\u67e5\uff08NBS\uff1aNewborn Screening\uff09\u7684\u63a8\u5e7f\uff0c\u8d8a\u6765\u8d8a\u591a\u7684\u75c5\u4f8b\u5728\u65e0\u75c7\u72b6\u7684\u60c5\u51b5\u4e0b\u5f97\u5230\u65e9\u671f\u53d1\u73b0\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0\"><\/span>\u75c5\u56e0<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6b64\u75c5\u662f\u7531ACADM\u57fa\u56e0\u7a81\u53d8\u5f15\u8d77\uff0c\u5bfc\u81f4MCAD\u9176\u7684\u529f\u80fd\u51cf\u5f31\u6216\u7f3a\u5931\u3002<\/p>\n\n\n\n<p>\u6b63\u5e38\u60c5\u51b5\u4e0b\uff0c\u8102\u80aa\u9178\u5206\u89e3\u751f\u6210\u4e59\u9170CoA\u7684\u8fc7\u7a0b\uff0c\u5728\u9965\u997f\u65f6\u4e3a\u8eab\u4f53\u63d0\u4f9b\u91cd\u8981\u7684\u80fd\u91cf\u3002\u7136\u800c\uff0cMCAD\u7f3a\u5931\u540e\uff0c\u8fd9\u4e00\u8fc7\u7a0b\u505c\u6ede\uff0c\u4f53\u5185\u5c06\u79ef\u7d2f\u4e2d\u94fe\u9170\u57fa\u8089\u6bd2\u78b1\uff08medium-chain acylcarnitines\uff09\u548c\u4e8c\u9178\uff08dicarboxylic acids\uff09\u7b49\u7269\u8d28\u3002<\/p>\n\n\n\n<p>\u8fd9\u4f1a\u5bfc\u81f4\u809d\u529f\u80fd\u969c\u788d\u3001\u4f4e\u8840\u7cd6\uff08\u8840\u7cd6\u5f02\u5e38\u4e0b\u964d\uff09\u3001\u4ee3\u8c22\u7d0a\u4e71\u7b49\u95ee\u9898\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6\"><\/span>\u75c7\u72b6 <span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8bb8\u591a\u5a74\u513f\u51fa\u751f\u65f6\u770b\u8d77\u6765\u5f88\u5065\u5eb7\u3002\u7136\u800c\uff0c\u5728\u4ee5\u4e0b\u5404\u79cd\u538b\u529b\u6e90\uff08\u5982\u9965\u997f\u3001\u53d1\u70ed\u3001\u611f\u67d3\u3001\u624b\u672f\u7b49\uff09\u4e0b\uff0c\u75c7\u72b6\u4f1a\u7a81\u7136\u51fa\u73b0\u3002<\/p>\n\n\n\n<p>\u4e3b\u8981\u75c7\u72b6\uff1a<\/p>\n\n\n\n<p>\u4f4e\u916e\u6027\u4f4e\u8840\u7cd6\uff08hypoketotic hypoglycemia\uff09<\/p>\n\n\n\n<p>\u5373\u4fbf\u8840\u7cd6\u4e0b\u964d\uff0c\u916e\u4f53\u4e0d\u4f1a\u589e\u52a0<\/p>\n\n\n\n<p>\u5455\u5410\u3001\u55dc\u7761\u3001\u62bd\u6410\u3001\u660f\u8ff7<\/p>\n\n\n\n<p>\u809d\u810f\u80bf\u5927\uff08\u809d\u80bf\u5927\uff09\u6216\u809d\u529f\u80fd\u969c\u788d<\/p>\n\n\n\n<p>\u8840\u6c28\u5347\u9ad8\uff08\u9ad8\u6c28\u8840\u75c7\uff09<\/p>\n\n\n\n<p>\u731d\u6b7b\uff08\u53ef\u80fd\u662fSIDS\u7684\u539f\u56e0\uff09<\/p>\n\n\n\n<p>\u957f\u671f\u5f71\u54cd\uff1a<\/p>\n\n\n\n<p>\u53d1\u80b2\u8fdf\u7f13<\/p>\n\n\n\n<p>\u6ce8\u610f\u529b\u7f3a\u9677\u4e0e\u591a\u52a8\u75c7\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\uff09<\/p>\n\n\n\n<p>\u8fd0\u52a8\u65f6\u5bb9\u6613\u75b2\u52b3<\/p>\n\n\n\n<p>\u808c\u529b\u4e0b\u964d<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A3%80%E6%B5%8B%E4%B8%8E%E8%AF%8A%E6%96%AD\"><\/span>\u68c0\u6d4b\u4e0e\u8bca\u65ad<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u65b0\u751f\u513f\u7b5b\u67e5\uff08NBS\uff09<\/p>\n\n\n\n<p>\u76ee\u524d\uff0c\u8bb8\u591a\u56fd\u5bb6\u548c\u5730\u533a\u901a\u8fc7\u751f\u540e\u51e0\u65e5\u5185\u8fdb\u884c\u8840\u6db2\u68c0\u67e5\uff0c\u80fd\u591f\u65e9\u671f\u53d1\u73b0MCADD\u3002<\/p>\n\n\n\n<p>\u8840\u6db2\u4e2dC8\u9170\u57fa\u8089\u6bd2\u78b1\uff08octanoylcarnitine\uff09\u7684\u6d53\u5ea6\u5347\u9ad8\u662f\u5176\u7279\u5f81\u3002<\/p>\n\n\n\n<p>\u6b64\u5916\uff0cC6\u3001C10\u3001C8\/C2\u6bd4\u3001C8\/C10\u6bd4\u7b49\u6570\u636e\u4e5f\u53ef\u4ee5\u53c2\u8003\u3002<\/p>\n\n\n\n<p>\u786e\u8bca\u68c0\u67e5\uff1a<\/p>\n\n\n\n<p>\u8840\u6db2\u4e2d\u9170\u57fa\u8089\u6bd2\u78b1\u5206\u6790\uff08\u5c24\u5176\u662fC8\u7684\u5347\u9ad8\uff09<\/p>\n\n\n\n<p>\u5c3f\u6709\u673a\u9178\u68c0\u6d4b\uff08\u4f8b\u5982\uff1a\u516d\u70ef\u9178\u7518\u6cb9\u7b49\u589e\u9ad8\uff09<\/p>\n\n\n\n<p>\u8089\u6bd2\u78b1\u6d53\u5ea6\u6d4b\u91cf\uff08\u901a\u5e38\u8f83\u4f4e\uff09<\/p>\n\n\n\n<p>\u57fa\u56e0\u68c0\u6d4b\uff08ACADM\u57fa\u56e0\u5168\u5e8f\u5217\u5206\u6790\uff09<\/p>\n\n\n\n<p>\u6700\u5e38\u89c1\u7684\u53d8\u5f02\u662fc.985A&gt;G\uff08p.Lys329Glu\uff09<\/p>\n\n\n\n<p>\u5fc5\u8981\u65f6\uff1a<\/p>\n\n\n\n<p>MCAD\u9176\u6d3b\u6027\u6d4b\u5b9a\uff08\u901a\u8fc7\u767d\u8840\u7403\u6216\u76ae\u80a4\u6210\u7ea4\u7ef4\u7ec6\u80de\uff09<\/p>\n\n\n\n<p>\u82e5\u9176\u6d3b\u6027\u4f4e\u4e8e25%\uff0c\u5373\u53ef\u786e\u8bca\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%96%97%E4%B8%8E%E7%AE%A1%E7%90%86\"><\/span>\u6cbb\u7597\u4e0e\u7ba1\u7406<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6025\u6027\u671f\uff08\u51fa\u73b0\u75c7\u72b6\u65f6\uff09\u7684\u5904\u7406\uff1a<\/p>\n\n\n\n<p>\u9700\u8981\u4f4f\u9662\u7d27\u6025\u6cbb\u7597<\/p>\n\n\n\n<p>\u901a\u8fc7\u8461\u8404\u7cd6\uff08glucose\uff09\u9759\u8109\u6ef4\u6ce8\uff0810\u301c12mg\/kg\/\u5206\u949f\uff09\u7a33\u5b9a\u8840\u7cd6<\/p>\n\n\n\n<p>\u6cbb\u7597\u5f15\u53d1\u539f\u56e0\u7684\u611f\u67d3\u7b49<\/p>\n\n\n\n<p>\u7ba1\u7406\u7535\u89e3\u8d28\u3001\u9178\u78b1\u5e73\u8861\u548c\u6c28\u7684\u6d53\u5ea6<\/p>\n\n\n\n<p>\u65e5\u5e38\u7ba1\u7406\uff1a<\/p>\n\n\n\n<p>\u996e\u98df\u4e0e\u907f\u514d\u7981\u98df<\/p>\n\n\n\n<p>\u65b0\u751f\u513f\uff1a\u6bcf2\u301c3\u5c0f\u65f6\u5582\u4e00\u6b21\u5976<\/p>\n\n\n\n<p>\u5e7c\u513f\u81f3\u5b66\u9f84\u671f\uff1a\u907f\u514d12\u5c0f\u65f6\u4ee5\u4e0a\u7684\u7981\u98df<\/p>\n\n\n\n<p>\u591c\u95f4\uff1a\u7761\u524d\u52a0\u9910\u6216\u7389\u7c73\u6dc0\u7c89\uff082g\/kg\uff09<\/p>\n\n\n\n<p>\u8102\u80aa\u5360\u603b\u70ed\u91cf\u768430%\u4ee5\u5185\uff0c\u63a8\u8350\u6444\u53d6\u6b63\u5e38\u70ed\u91cf<\/p>\n\n\n\n<p>\u8865\u5145\u5242<\/p>\n\n\n\n<p>L-\u8089\u6bd2\u78b1\uff1a\u6839\u636e\u9700\u8981\uff0850\u301c100mg\/kg\/\u65e5\uff09<\/p>\n\n\n\n<p>\u9884\u9632<\/p>\n\n\n\n<p>\u907f\u514d\u9965\u997f<\/p>\n\n\n\n<p>\u907f\u514d\u542b\u4e2d\u94fe\u8102\u80aa\u9178\u4e30\u5bcc\u7684\u98df\u7269\uff08\u5982\u6930\u5b50\u6cb9\u7b49\uff09<\/p>\n\n\n\n<p>\u907f\u514d\u9152\u7cbe\u548c\u963f\u53f8\u5339\u6797<\/p>\n\n\n\n<p>\u76d1\u6d4b<\/p>\n\n\n\n<p>\u5b9a\u671f\u5c31\u8bca\u513f\u7ae5\u4ee3\u8c22\u79d1\uff08\u6bcf2\u301c3\u4e2a\u6708\uff0c\u7a33\u5b9a\u540e\u6bcf6\u4e2a\u6708\u4e00\u6b21\uff09<\/p>\n\n\n\n<p>\u8bc4\u4f30\u751f\u957f\u3001\u53d1\u80b2\u3001\u884c\u4e3a\u53ca\u8089\u6bd2\u78b1\u6d53\u5ea6<\/p>\n\n\n\n<p>\u7d27\u6025\u5e94\u5bf9\u8ba1\u5212<\/p>\n\n\n\n<p>\u63d0\u4f9b\u533b\u7597\u673a\u6784\u7684\u201c\u7d27\u6025\u5e94\u5bf9\u5361\u201d<\/p>\n\n\n\n<p>\u53d1\u70ed\u6216\u8eab\u4f53\u4e0d\u9002\u65f6\uff0c\u5e94\u7acb\u5373\u5c31\u533b<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A2%84%E5%90%8E\"><\/span>\u9884\u540e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u65e9\u671f\u8bca\u65ad\u548c\u9002\u5f53\u7684\u7ba1\u7406\u53ef\u4ee5\u8ba9\u60a3\u8005\u6b63\u5e38\u53d1\u5c55\u548c\u751f\u6d3b\u3002<\/p>\n\n\n\n<p>\u672a\u6cbb\u7597\u7684\u60c5\u51b5\u4e0b\uff1a\u521d\u6b21\u53d1\u4f5c\u65f6\uff0c\u7ea620\u301c25%\u4f1a\u6b7b\u4ea1\u6216\u7559\u4e0b\u540e\u9057\u75c7\u3002<\/p>\n\n\n\n<p>\u7b5b\u67e5\u540e\u53d1\u73b0\u7684\u75c5\u4f8b\uff1a\u7531\u4e8e\u53ef\u4ee5\u5728\u53d1\u75c5\u524d\u91c7\u53d6\u63aa\u65bd\uff0c\u56e0\u6b64\u6b7b\u4ea1\u7387\u548c\u540e\u9057\u75c7\u98ce\u9669\u663e\u8457\u964d\u4f4e\u3002<\/p>\n\n\n\n<p>\u7136\u800c\uff0c\u7ec8\u8eab\u9700\u8981\u907f\u514d\u9965\u997f\u548c\u4f53\u8c03\u7ba1\u7406\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<!-- 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\u52a3\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\": \"\u5c0f\u5150\u79d1\u3001\u4ee3\u8b1d\u5185\u79d1\"\n      }\n    }\n  ]\n}\n<\/script>\n","protected":false},"excerpt":{"rendered":"\u3084\u3055\u3057\u3044\u307e\u3068\u3081 \u672c\u9875\u9762\u5c06\u8be6\u7ec6\u8bb2\u89e3\u4e2d\u94fe\u9170\u57fa&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/?lang=zh-hans\">\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":[14],"tags":[],"class_list":["post-111963","post","type-post","status-publish","format-standard","hentry","category-other-zh-hans"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111963","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=111963"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111963\/revisions"}],"predecessor-version":[{"id":111973,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111963\/revisions\/111973"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=111963"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=111963"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=111963"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}