{"id":35914,"date":"2022-07-27T15:56:34","date_gmt":"2022-07-27T06:56:34","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=35914"},"modified":"2026-03-05T09:40:58","modified_gmt":"2026-03-05T00:40:58","slug":"methylmalonic-aciduria-and-homocystinuria-type-cblc","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylmalonic-aciduria-and-homocystinuria-type-cblc\/","title":{"rendered":"\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7\u3068\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\uff08cblC\u578b\uff09"},"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>\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7\u304a\u3088\u3073\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\uff08cblC\u578b\uff09\u306f\u3001MMACHC\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u30b3\u30d0\u30e9\u30df\u30f3\u4ee3\u8b1d\u7570\u5e38\u306b\u8d77\u56e0\u3059\u308b\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001cblC\u578b\u306e\u75c5\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u6cd5\u3001\u305d\u3057\u3066\u4e88\u5f8c\u306b\u3064\u3044\u3066\u3001\u6700\u65b0\u306e\u7814\u7a76\u30c7\u30fc\u30bf\u3092\u57fa\u306b\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002\u7279\u306b\u3001\u65e9\u671f\u767a\u75c7\u578b\u3068\u5f8c\u671f\u767a\u75c7\u578b\u306e\u9055\u3044\u3084\u3001\u30d2\u30c9\u30ed\u30ad\u30bd\u30b3\u30d0\u30e9\u30df\u30f3\u7642\u6cd5\u306e\u52b9\u679c\u306b\u3064\u3044\u3066\u3082\u53d6\u308a\u4e0a\u3052\u307e\u3059\u3002\u81e8\u5e8a\u533b\u3084\u7814\u7a76\u8005\u306b\u3068\u3063\u3066\u6709\u76ca\u306a\u60c5\u5831\u3092\u63d0\u4f9b\u3059\u308b\u3068\u3068\u3082\u306b\u3001\u60a3\u8005\u3084\u305d\u306e\u5bb6\u65cf\u306b\u3082\u5206\u304b\u308a\u3084\u3059\u304f\u8aac\u660e\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>MMACHC\uff5cMethylmalonic Acidemia and Homocystinuria, cblC Type<\/p>\n\n\n\n<p><sup>Vitamin B12 Metabolic Defect with Combined Deficiency of Methylmalonyl-Coa Mutase and Homocysteine:methyltetrahydrofolate Methyltransferase; Cobalamin C Disease; Combined Defect in Adenosylcobalamin and Methylcobalamin Synthesis, Type Cblc<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7\u304a\u3088\u3073\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\u3001cblC\u578b\uff08Methylmalonic Acidemia and Homocystinuria, cblC Type\uff09\u306f\u3001\u30b3\u30d0\u30e9\u30df\u30f3\uff08\u30d3\u30bf\u30df\u30f3B12\uff09\u4ee3\u8b1d\u306e\u5148\u5929\u7684\u7570\u5e38\u306b\u3088\u308a\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u75be\u60a3\u3067\u3042\u308b\u3002MMACHC\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u3001\u30a2\u30c7\u30ce\u30b7\u30eb\u30b3\u30d0\u30e9\u30df\u30f3\uff08AdoCbl\uff09\u304a\u3088\u3073\u30e1\u30c1\u30eb\u30b3\u30d0\u30e9\u30df\u30f3\uff08MeCbl\uff09\u306e\u5408\u6210\u969c\u5bb3\u304c\u751f\u3058\u308b\u3002\u3053\u306e\u7d50\u679c\u3001\u30e1\u30c1\u30eb\u30de\u30ed\u30cb\u30ebCoA\u30e0\u30bf\u30fc\u30bc\uff08MUT\uff09\u304a\u3088\u3073\u30e1\u30c1\u30aa\u30cb\u30f3\u5408\u6210\u9175\u7d20\uff08MTR\uff09\u306e\u6d3b\u6027\u304c\u4f4e\u4e0b\u3057\u3001\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\uff08MMA\uff09\u3068\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\uff08Hcy\uff09\u306e\u84c4\u7a4d\u3092\u5f15\u304d\u8d77\u3053\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u4e73\u5150\u671f\u3001\u5e7c\u5150\u671f\u3001\u6210\u4eba\u671f\u306e\u3044\u305a\u308c\u3067\u3082\u767a\u75c7\u3057\u5f97\u308b\u304c\u3001\u4e73\u5150\u671f\u767a\u75c7\u4f8b\uff08\u65e9\u671f\u767a\u75c7\u578b\uff09\u304c\u6700\u3082\u591a\u304f\u3001\u767a\u80b2\u4e0d\u5168\u3001\u8ca7\u8840\u3001\u795e\u7d4c\u767a\u9054\u9045\u6ede\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u3051\u3044\u308c\u3093\u306a\u3069\u306e\u591a\u69d8\u306a\u75c7\u72b6\u3092\u5448\u3059\u308b\u3002\u5f8c\u671f\u767a\u75c7\u578b\u3067\u306f\u3001\u795e\u7d4c\u7cbe\u795e\u75c7\u72b6\u3084\u8840\u6813\u75c7\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7\u304a\u3088\u3073\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\u3001cblC\u578b\u306f\u3001\u30b3\u30d0\u30e9\u30df\u30f3\u4ee3\u8b1d\u7570\u5e38\u306e\u4e2d\u3067\u6700\u3082\u4e00\u822c\u7684\u306a\u578b\u3067\u3042\u308a\u3001\u305d\u306e\u767a\u75c7\u983b\u5ea6\u306f\u4eba\u7a2e\u3084\u5730\u57df\u306b\u3088\u3063\u3066\u7570\u306a\u308b\u3002\u4e00\u822c\u7684\u306a\u767a\u751f\u7387\u306f\u3001<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30a2\u30e1\u30ea\u30ab\u5408\u8846\u56fd\u30cb\u30e5\u30fc\u30e8\u30fc\u30af\u5dde\u306b\u304a\u3044\u3066\u306f1\/100,000<\/li>\n\n\n\n<li>\u30ab\u30ea\u30d5\u30a9\u30eb\u30cb\u30a2\u5dde\u3067\u306f1\/60,000<\/li>\n\n\n\n<li>\u4e16\u754c\u7684\u306b\u306f1\/37,000\u304b\u30891\/200,000<\/li>\n<\/ul>\n\n\n\n<p>MMACHC\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f50\u7a2e\u985e\u4ee5\u4e0a\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u30e8\u30fc\u30ed\u30c3\u30d1\u4eba\u96c6\u56e3\u3067\u306fc.271dupA\u5909\u7570\u304c\u6700\u3082\u4e00\u822c\u7684\u3067\u3042\u308a\u3001\u5168\u30a2\u30ec\u30eb\u306e\u7d0440\u301c55\uff05\u3092\u5360\u3081\u308b\u3068\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001MMACHC\u907a\u4f1d\u5b50\uff081p34.1\uff09\u306e\u5909\u7570\u306b\u3088\u308a\u767a\u75c7\u3059\u308b\u3002MMACHC\u306f\u3001\u30d3\u30bf\u30df\u30f3B12\u306e\u30b7\u30a2\u30ce\u57fa\u9664\u53bb\uff08\u8131\u30b7\u30a2\u30ce\u5316\uff09\u304a\u3088\u3073\u30a2\u30eb\u30ad\u30eb\u57fa\u9664\u53bb\uff08\u8131\u30a2\u30eb\u30ad\u30eb\u5316\uff09\u3092\u62c5\u3046\u9175\u7d20\u3067\u3042\u308a\u3001\u3053\u308c\u3089\u306e\u904e\u7a0b\u304c\u963b\u5bb3\u3055\u308c\u308b\u3053\u3068\u3067\u3001\u30b3\u30d0\u30e9\u30df\u30f3\u304c\u6d3b\u6027\u578b\u306eAdoCbl\u304a\u3088\u3073MeCbl\u306b\u5909\u63db\u3055\u308c\u305a\u3001MUT\u304a\u3088\u3073MTR\u306e\u6d3b\u6027\u304c\u4f4e\u4e0b\u3059\u308b\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u7d50\u679c\u3001\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u304c\u5206\u89e3\u3055\u308c\u305a\u306b\u84c4\u7a4d\u3057\u3001\u540c\u6642\u306b\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u306e\u518d\u30e1\u30c1\u30eb\u5316\u304c\u963b\u5bb3\u3055\u308c\u308b\u3053\u3068\u3067\u9ad8\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u8840\u75c7\u304c\u751f\u3058\u308b\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div class=\"wp-block-greentreelabs-post-snippets-block\">MMACHC\u907a\u4f1d\u5b50\u3067\u3042\u308c\u3070\u5f53\u9662\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan\/n-advance\/\">N-advance FM+\u30d7\u30e9\u30f3<\/a>\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan\/n-advance\/\">N-advance GM+\u30d7\u30e9\u30f3<\/a>\u3067\u691c\u67fb\u304c\u53ef\u80fd\u3068\u306a\u3063\u3066\u304a\u308a\u307e\u3059\u3002<\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>\u672c\u75be\u60a3\u306e\u75c7\u72b6\u306f\u767a\u75c7\u5e74\u9f62\u306b\u3088\u308a\u7570\u306a\u308a\u3001\u5927\u304d\u304f\u300c\u65e9\u671f\u767a\u75c7\u578b\u300d\u3068\u300c\u5f8c\u671f\u767a\u75c7\u578b\u300d\u306b\u5206\u985e\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<p><strong>\u65e9\u671f\u767a\u75c7\u578b\uff08\u4e73\u5150\u671f\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u80b2\u4e0d\u5168<\/li>\n\n\n\n<li>\u54fa\u4e73\u56f0\u96e3<\/li>\n\n\n\n<li>\u4f4e\u7dca\u5f35\u307e\u305f\u306f\u7b4b\u7dca\u5f35\u4ea2\u9032<\/li>\n\n\n\n<li>\u3051\u3044\u308c\u3093<\/li>\n\n\n\n<li>\u795e\u7d4c\u767a\u9054\u9045\u6ede<\/li>\n\n\n\n<li>\u5de8\u8d64\u82bd\u7403\u6027\u8ca7\u8840<\/li>\n\n\n\n<li>\u8996\u899a\u7570\u5e38\uff08\u7db2\u819c\u75c7\u3001\u8996\u795e\u7d4c\u840e\u7e2e\uff09<\/li>\n\n\n\n<li>\u80ba\u9ad8\u8840\u5727\u75c7<\/li>\n\n\n\n<li>\u814e\u6a5f\u80fd\u969c\u5bb3\uff08\u8840\u6813\u6027\u5fae\u5c0f\u8840\u7ba1\u75c7\u3001\u5c3f\u7d30\u7ba1\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\uff09<\/li>\n<\/ul>\n\n\n\n<p><strong>\u5f8c\u671f\u767a\u75c7\u578b\uff08\u5e7c\u5150\u671f\u4ee5\u964d\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9032\u884c\u6027\u8a8d\u77e5\u6a5f\u80fd\u4f4e\u4e0b<\/li>\n\n\n\n<li>\u7cbe\u795e\u969c\u5bb3\uff08\u5e7b\u899a\u3001\u932f\u4e71\u3001\u6291\u3046\u3064\u3001\u7cbe\u795e\u75c5\uff09<\/li>\n\n\n\n<li>\u75d9\u7e2e<\/li>\n\n\n\n<li>\u8133\u767d\u8cea\u75c5\u5909\uff08MRI\u3067\u306e\u767d\u8cea\u7570\u5e38\uff09<\/li>\n\n\n\n<li>\u810a\u9ac4\u5909\u6027\uff08\u4e9c\u6025\u6027\u9023\u5408\u6027\u810a\u9ac4\u5909\u6027\u75c7\uff09<\/li>\n\n\n\n<li>\u8840\u6813\u75c7\uff08\u9759\u8108\u8840\u6813\u585e\u6813\u75c7\u3001\u8133\u6897\u585e\uff09<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p><strong>\u751f\u5316\u5b66\u7684\u691c\u67fb<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8840\u4e2d\u304a\u3088\u3073\u5c3f\u4e2d\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\uff08MMA\uff09\u306e\u4e0a\u6607<\/li>\n\n\n\n<li>\u8840\u6f3f\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\uff08Hcy\uff09\u306e\u4e0a\u6607<\/li>\n\n\n\n<li>\u30e1\u30c1\u30aa\u30cb\u30f3\u4f4e\u5024<\/li>\n\n\n\n<li>\u30d3\u30bf\u30df\u30f3B12\u8840\u4e2d\u6fc3\u5ea6\u306f\u6b63\u5e38\u7bc4\u56f2<\/li>\n<\/ul>\n\n\n\n<p><strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>MMACHC\u907a\u4f1d\u5b50\u306e\u30b7\u30fc\u30af\u30a8\u30f3\u30b7\u30f3\u30b0\u89e3\u6790\u306b\u3088\u308b\u5909\u7570\u691c\u51fa<\/li>\n\n\n\n<li>\u4ee3\u8868\u7684\u306a\u5909\u7570\u306b\u306f\u3001c.271dupA\uff08\u65e9\u671f\u767a\u75c7\u578b\u3067\u983b\u5ea6\u304c\u9ad8\u3044\uff09\u3001c.394C&gt;T\uff08\u5f8c\u671f\u767a\u75c7\u578b\uff09\u306a\u3069\u304c\u3042\u308b\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u753b\u50cf\u691c\u67fb<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>MRI\uff1a\u5927\u8133\u767d\u8cea\u7570\u5e38\u3001\u57fa\u5e95\u6838\u306e\u5909\u6027\u3001\u810a\u9ac4\u75c5\u5909<\/li>\n\n\n\n<li>\u773c\u5e95\u691c\u67fb\uff1a\u7db2\u819c\u8272\u7d20\u5909\u6027\u3001\u8996\u795e\u7d4c\u840e\u7e2e<\/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>\u672c\u75be\u60a3\u306e\u6cbb\u7642\u306e\u57fa\u672c\u306f\u3001<\/p>\n\n\n\n<ol start=\"1\" class=\"wp-block-list\">\n<li><strong>\u30d2\u30c9\u30ed\u30ad\u30bd\u30b3\u30d0\u30e9\u30df\u30f3\uff08OH-Cbl\uff09\u88dc\u5145\u7642\u6cd5<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u76ae\u4e0b\u307e\u305f\u306f\u7b4b\u8089\u5185\u6295\u4e0e<\/li>\n\n\n\n<li>\u65e9\u671f\u767a\u75c7\u578b\u3067\u306f\u751f\u5f8c\u3059\u3050\u306b\u958b\u59cb\u3059\u308b\u3053\u3068\u3067\u4e88\u5f8c\u304c\u6539\u5584<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30d9\u30bf\u30a4\u30f3\u88dc\u5145<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u306e\u518d\u30e1\u30c1\u30eb\u5316\u3092\u4fc3\u9032\u3057\u3001\u8840\u4e2d\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u6fc3\u5ea6\u3092\u4f4e\u4e0b\u3055\u305b\u308b<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8449\u9178\u304a\u3088\u3073\u30ec\u30dc\u30ab\u30eb\u30cb\u30c1\u30f3\u88dc\u5145<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8449\u9178\u306f\u30e1\u30c1\u30eb\u57fa\u4f9b\u4e0e\u4f53\u3068\u3057\u3066\u6a5f\u80fd<\/li>\n\n\n\n<li>\u30ec\u30dc\u30ab\u30eb\u30cb\u30c1\u30f3\u306f\u7570\u5e38\u4ee3\u8b1d\u7269\u306e\u6392\u51fa\u3092\u4fc3\u9032<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u98df\u4e8b\u7642\u6cd5<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e00\u822c\u7684\u306b\u30bf\u30f3\u30d1\u30af\u5236\u9650\u306f\u63a8\u5968\u3055\u308c\u306a\u3044\u304c\u3001\u500b\u5225\u306e\u6804\u990a\u7ba1\u7406\u304c\u5fc5\u8981<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5b9a\u671f\u7684\u306a\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8840\u4e2dMMA\u304a\u3088\u3073Hcy\u6fc3\u5ea6\u306e\u8a55\u4fa1<\/li>\n\n\n\n<li>\u795e\u7d4c\u767a\u9054\u306e\u5b9a\u671f\u691c\u67fb<\/li>\n\n\n\n<li>\u814e\u6a5f\u80fd\u304a\u3088\u3073\u5fc3\u8840\u7ba1\u7cfb\u306e\u30c1\u30a7\u30c3\u30af<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>\u65e9\u671f\u767a\u75c7\u578b\u306e\u4e88\u5f8c\u306f\u4e00\u822c\u306b\u4e0d\u826f\u3067\u3042\u308a\u3001\u9069\u5207\u306a\u6cbb\u7642\u3092\u53d7\u3051\u306a\u3044\u5834\u5408\u306f\u4e73\u5e7c\u5150\u671f\u306b\u81f4\u6b7b\u7684\u306a\u8ee2\u5e30\u3092\u3068\u308b\u3053\u3068\u304c\u591a\u3044\u3002\u3057\u304b\u3057\u3001\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3084\u65e9\u671f\u6cbb\u7642\u4ecb\u5165\u306b\u3088\u308a\u3001\u751f\u547d\u4e88\u5f8c\u306f\u5927\u5e45\u306b\u6539\u5584\u3055\u308c\u3066\u3044\u308b\u3002\u795e\u7d4c\u5b66\u7684\u306a\u4e88\u5f8c\u306f\u3001\u767a\u75c7\u6642\u671f\u3084\u6cbb\u7642\u958b\u59cb\u306e\u30bf\u30a4\u30df\u30f3\u30b0\u306b\u5f37\u304f\u4f9d\u5b58\u3057\u3001\u6cbb\u7642\u304c\u9045\u308c\u308b\u3068\u8a8d\u77e5\u969c\u5bb3\u3084\u904b\u52d5\u969c\u5bb3\u304c\u4e0d\u53ef\u9006\u7684\u306b\u9032\u884c\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u5f8c\u671f\u767a\u75c7\u578b\u306f\u6bd4\u8f03\u7684\u8efd\u75c7\u3067\u3042\u308a\u3001\u795e\u7d4c\u75c7\u72b6\u3084\u7cbe\u795e\u75c7\u72b6\u306e\u7ba1\u7406\u304c\u9069\u5207\u306b\u884c\u308f\u308c\u308c\u3070\u3001\u751f\u6d3b\u306e\u8cea\u3092\u7dad\u6301\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3042\u308b\u3002\u3057\u304b\u3057\u3001\u8840\u6813\u75c7\u3084\u814e\u6a5f\u80fd\u969c\u5bb3\u306a\u3069\u306e\u5408\u4f75\u75c7\u306b\u306f\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u591a\u81d3\u5668\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u305f\u3081\u3001\u795e\u7d4c\u79d1\u3001\u5c0f\u5150\u79d1\u3001\u907a\u4f1d\u79d1\u3001\u814e\u81d3\u5185\u79d1\u3001\u773c\u79d1\u306a\u3069\u591a\u9818\u57df\u306e\u5c02\u9580\u533b\u306b\u3088\u308b\u7d71\u5408\u7684\u306a\u7ba1\u7406\u304c\u63a8\u5968\u3055\u308c\u308b\u3002<\/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\/10.3390\/cryst12040468\">Xu, Q., Zhou, H., Li, M., Wang, W., Xu, M., Zhu, Z., Zhang, C., Wang, Q., Yu, F., &amp; He, J. (2022). Structural study of the complex of cblc methylmalonic aciduria and homocystinuria-related protein mmachc with cyanocobalamin. <em>Crystals<\/em>, <em>12<\/em>(4), 468. https:\/\/doi.org\/10.3390\/cryst12040468<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.21203\/rs.3.rs-5790448\/v1\">Ma, W., Mao, Y., Niu, H., Wu, Z., Zheng, P., Zhao, T., Zhang, C., Yu, S., Zhou, J., Ren, Z., Cheng, P., Zhang, L., Xie, L., Dong, Z., Xia, Y., Sheng, W., Feng, Z., Dong, X., Chen, Q., &amp; Wu, X. (2025). <em>A novel mmachc c. 80a&amp;gt;g mouse model reveals the role of mitochondrial dysfunction in skeletal muscle in combined methylmalonic acidemia and homocystinuria<\/em>. https:\/\/doi.org\/10.21203\/rs.3.rs-5790448\/v1<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s43042-021-00197-2\">Waheed, N., Fayyaz, Z. &amp; Imran, A. Spectrum of clinical manifestation of methylmalonic acidemia and homocystinuria in a family of six siblings: novel combination of transcobalamin receptor defect (CD320) and cblC deficiency (MMACHC). <em>Egypt J Med Hum Genet<\/em> <strong>22<\/strong>, 75 (2021). https:\/\/doi.org\/10.1186\/s43042-021-00197-2<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.heliyon.2025.e42086\">Mondesert, E., Baud, B., Roubertie, A., Benoist, J.-F., Grillet, P.-E., Cristol, J.-P., Francois-Heude, M. C., Schiff, M., &amp; Badiou, S. (2025). Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C type. <em>Heliyon<\/em>, <em>11<\/em>(3), e42086. https:\/\/doi.org\/10.1016\/j.heliyon.2025.e42086<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s13023-024-03021-3\">Arhip, L., Brox-Torrecilla, N., Romero, I. <em>et al.<\/em> Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review. <em>Orphanet J Rare Dis<\/em> <strong>19<\/strong>, 20 (2024). https:\/\/doi.org\/10.1186\/s13023-024-03021-3<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/children8020112\">Karava, V., Kondou, A., Dotis, J., Sotiriou, G., Gerou, S., Michelakakis, H., Vargiami, E., Economou, M., Zafeiriou, D., &amp; Printza, N. (2021). Hemolytic uremic syndrome due to methylmalonic acidemia and homocystinuria in an infant: A case report and literature review. <em>Children<\/em>, <em>8<\/em>(2), 112. https:\/\/doi.org\/10.3390\/children8020112<\/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>\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7, \u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7, cblC\u578b, MMACHC, \u30b3\u30d0\u30e9\u30df\u30f3\u4ee3\u8b1d\u7570\u5e38, \u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178, \u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3, \u30d2\u30c9\u30ed\u30ad\u30bd\u30b3\u30d0\u30e9\u30df\u30f3, \u30e1\u30c1\u30aa\u30cb\u30f3\u5408\u6210\u9175\u7d20, \u30d3\u30bf\u30df\u30f3B12\u6b20\u4e4f\u75c7, \u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38, \u8840\u6813\u6027\u5fae\u5c0f\u8840\u7ba1\u75c7<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":32,"template":"page_gd.php","class_list":["post-35914","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\/35914","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":10,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/35914\/revisions"}],"predecessor-version":[{"id":125481,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/35914\/revisions\/125481"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=35914"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}