{"id":33759,"date":"2022-07-12T11:39:36","date_gmt":"2022-07-12T02:39:36","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33759"},"modified":"2026-04-28T13:48:01","modified_gmt":"2026-04-28T04:48:01","slug":"methylmalonic-acidemia-mmaa-related","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylmalonic-acidemia-mmaa-related\/","title":{"rendered":"\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7(MMAA\u95a2\u9023)"},"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\u75c7cblA\u578b\uff08MMA cblA\uff09\u306f\u3001MMAA\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u767a\u75c7\u3059\u308b\u5e0c\u5c11\u306a\u4ee3\u8b1d\u75be\u60a3\u3067\u3059\u3002\u9069\u5207\u306a\u8a3a\u65ad\u3068\u30d2\u30c9\u30ed\u30ad\u30bd\u30b3\u30d0\u30e9\u30df\u30f3\u6cbb\u7642\u306b\u3088\u308a\u75c7\u72b6\u306e\u7ba1\u7406\u304c\u53ef\u80fd\u3067\u3059\u304c\u3001\u6162\u6027\u814e\u75be\u60a3\u3084\u4ee3\u8b1d\u5371\u6a5f\u306e\u30ea\u30b9\u30af\u304c\u4f9d\u7136\u3068\u3057\u3066\u6b8b\u308a\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001MMA cblA\u306e\u6982\u8981\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u6226\u7565\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>MMAA\uff5cMethylmalonic Acidemia, cblA Type<\/p>\n\n\n\n<p><sup>MACA; <\/sup><sup>Methylmalonic Aciduria, Cbla Type<a href=\"https:\/\/disease-ontology.org\/?id=DOID:14749\" target=\"_blank\" rel=\"noreferrer noopener\"><\/a>; Methylmalonic Aciduria, Vitamin B12-Responsive Due to a Defect in Synthesis of Adenosylcobalamin Cb1a Type<\/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\u75c7cblA\u578b\uff08Methylmalonic Acidemia, cblA Type, MMA cblA\uff09\u306f\u3001<em>MMAA<\/em>\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3001\u7a00\u306a\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u306e\u4ee3\u8b1d\u75be\u60a3\u3067\u3059\u3002<em>MMAA<\/em>\u907a\u4f1d\u5b50\u306f\u3001GTPase\uff08\u30b0\u30a2\u30ce\u30b7\u30f3\u4e09\u30ea\u30f3\u9178\u52a0\u6c34\u5206\u89e3\u9175\u7d20\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u3053\u306e\u9175\u7d20\u306f\u30e1\u30c1\u30eb\u30de\u30ed\u30cb\u30ebCoA\u30e0\u30bf\u30fc\u30bc\uff08Methylmalonyl-CoA Mutase, MCM\uff09\u306e\u6d3b\u6027\u5316\u3068\u5b89\u5b9a\u5316\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002MCM\u306f\u3001\u7279\u5b9a\u306e\u30a2\u30df\u30ce\u9178\u3084\u8102\u80aa\u9178\u3092\u9069\u5207\u306b\u4ee3\u8b1d\u3059\u308b\u305f\u3081\u306b\u4e0d\u53ef\u6b20\u306a\u9175\u7d20\u3067\u3059\u3002<\/p>\n\n\n\n<p>MMA cblA\u306f\u3001\u4ed6\u306e\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7\u306e\u30b5\u30d6\u30bf\u30a4\u30d7\u3067\u3042\u308bcblB\u578b\u3084mut0\/mut-\u578b\u3068\u306f\u7570\u306a\u308a\u3001\u5358\u72ec\u578b\u306e\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7\u3068\u3057\u3066\u5206\u985e\u3055\u308c\u307e\u3059\u3002\u672c\u75be\u60a3\u3067\u306f\u3001\u30b3\u30d0\u30e9\u30df\u30f3\uff08\u30d3\u30bf\u30df\u30f3B12\uff09\u306e\u4ee3\u8b1d\u7570\u5e38\u306b\u3088\u308a\u3001\u8840\u6db2\u3084\u5c3f\u4e2d\u306e\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u304c\u7570\u5e38\u306b\u9ad8\u5024\u3092\u793a\u3059\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>MMA cblA\u306f\u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u65b0\u751f\u51505\u4e07\u301c10\u4e07\u4eba\u306b1\u4eba\u306e\u5272\u5408\u3067\u767a\u75c7\u3059\u308b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u5b9a\u306e\u6c11\u65cf\u3084\u4eba\u7a2e\u306b\u304a\u3044\u3066\u767a\u75c7\u7387\u306e\u9855\u8457\u306a\u504f\u308a\u306f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u3044\u304f\u3064\u304b\u306e\u56fd\u3067\u306f\u3001\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff08\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\uff09\u306e\u4e00\u74b0\u3068\u3057\u3066MMA cblA\u304c\u691c\u67fb\u5bfe\u8c61\u306b\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u7ba1\u7406\u306b\u3088\u308b\u4e88\u5f8c\u306e\u6539\u5584\u304c\u9032\u3093\u3067\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u3059\u3079\u3066\u306e\u5730\u57df\u3067\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u304c\u666e\u53ca\u3057\u3066\u3044\u308b\u308f\u3051\u3067\u306f\u306a\u304f\u3001\u7279\u306b\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u5236\u5ea6\u304c\u6574\u5099\u3055\u308c\u3066\u3044\u306a\u3044\u56fd\u3084\u5730\u57df\u3067\u306f\u3001\u672a\u8a3a\u65ad\u306e\u307e\u307e\u3068\u306a\u3063\u3066\u3044\u308b\u75c7\u4f8b\u304c\u4f9d\u7136\u3068\u3057\u3066\u591a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>MMA cblA\u306f\u3001<em>MMAA<\/em>\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u306b\u75c5\u7684\u5909\u7570\u304c\u751f\u3058\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u7b2c4\u67d3\u8272\u4f53\uff084q31\uff09\u4e0a\u306b\u4f4d\u7f6e\u3057\u3001\u305d\u306e\u30b3\u30fc\u30c9\u3059\u308b<em>MMAA<\/em>\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u30b3\u30d0\u30e9\u30df\u30f3\uff08\u30d3\u30bf\u30df\u30f3B12\uff09\u306e\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u3078\u306e\u8f38\u9001\u3092\u4fc3\u9032\u3057\u3001\u30a2\u30c7\u30ce\u30b7\u30eb\u30b3\u30d0\u30e9\u30df\u30f3\uff08AdoCbl\uff09\u306e\u9178\u5316\u3092\u9632\u3050\u3068\u3068\u3082\u306b\u3001MCM\u306e\u9069\u5207\u306a\u6a5f\u80fd\u3092\u7dad\u6301\u3059\u308b\u50cd\u304d\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<em>MMAA<\/em>\u306e\u6a5f\u80fd\u304c\u640d\u306a\u308f\u308c\u308b\u3068\u3001\u30e1\u30c1\u30eb\u30de\u30ed\u30cb\u30ebCoA\u304c\u30b3\u30cf\u30af\u9178CoA\uff08Succinyl-CoA\uff09\u306b\u5909\u63db\u3055\u308c\u306a\u304f\u306a\u308a\u3001\u7d50\u679c\u3068\u3057\u3066\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u304c\u4f53\u5185\u306b\u84c4\u7a4d\u3057\u3001\u6bd2\u6027\u3092\u6301\u3064\u4ee3\u8b1d\u7523\u7269\u304c\u5897\u52a0\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4ed6\u306e\u5358\u72ec\u578b\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3059\u907a\u4f1d\u7684\u8981\u56e0\u306b\u306f\u3001<em>MMUT<\/em>\uff08MCM\u3092\u30b3\u30fc\u30c9\u3059\u308b\u907a\u4f1d\u5b50\uff09\u3001<em>MMAB<\/em>\uff08cblB\u578bMMA\u3092\u5f15\u304d\u8d77\u3053\u3059\u907a\u4f1d\u5b50\uff09\u3001<em>MMADHC<\/em>\uff08cblD\u578bMMA\u3092\u5f15\u304d\u8d77\u3053\u3059\u907a\u4f1d\u5b50\uff09\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u3001MMA cblA\u306f\u7279\u306b\u30d2\u30c9\u30ed\u30ad\u30bd\u30b3\u30d0\u30e9\u30df\u30f3\uff08Hydroxocobalamin\uff09\u6cbb\u7642\u306b\u53cd\u5fdc\u3059\u308b\u3053\u3068\u304c\u7279\u5fb4\u3067\u3042\u308a\u3001\u3053\u308c\u304c\u4ed6\u306e\u30bf\u30a4\u30d7\u306eMMA\u3068\u533a\u5225\u3055\u308c\u308b\u91cd\u8981\u306a\u8981\u7d20\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>MMA cblA\u306f\u3001\u751f\u5f8c\u9593\u3082\u306a\u3044\u6642\u671f\u3084\u5e7c\u5150\u671f\u306b\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u4e3b\u306a\u75c7\u72b6\u3068\u3057\u3066\u4ee3\u8b1d\u6027\u8131\u843d\uff08\u4ee3\u8b1d\u306e\u7570\u5e38\u306b\u3088\u308b\u6025\u6027\u767a\u75c7\uff09\u304c\u307f\u3089\u308c\u307e\u3059\u3002\u5178\u578b\u7684\u306a\u75c7\u72b6\u306b\u306f\u3001\u98df\u6b32\u4e0d\u632f\u3001\u5614\u5410\u3001\u5026\u6020\u611f\u3001\u767a\u80b2\u4e0d\u826f\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u4f4e\u7dca\u5f35\uff09\u3001\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\uff08\u8840\u6db2\u4e2d\u306e\u9178\u6027\u5ea6\u306e\u4e0a\u6607\uff09\u3001\u809d\u816b\u5927\uff08\u809d\u81d3\u306e\u80a5\u5927\uff09\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9577\u671f\u7684\u306a\u5408\u4f75\u75c7\u3068\u3057\u3066\u3001\u767a\u9054\u9045\u5ef6\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u6162\u6027\u814e\u75be\u60a3\uff08Chronic Kidney Disease, CKD\uff09\u3001\u81b5\u708e\u3001\u904b\u52d5\u5931\u8abf\uff08\u30a2\u30bf\u30ad\u30b7\u30a2\uff09\u3084\u4e0d\u968f\u610f\u904b\u52d5\u306a\u3069\u306e\u795e\u7d4c\u75c7\u72b6\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u767a\u75c7\u304c\u9045\u308c\u308b\u8efd\u75c7\u578b\u306e\u60a3\u8005\u3067\u306f\u3001\u6162\u6027\u7684\u306a\u814e\u6a5f\u80fd\u969c\u5bb3\u3084\u8efd\u5ea6\u306e\u6210\u9577\u9045\u5ef6\u3001\u65ad\u7d9a\u7684\u306a\u4ee3\u8b1d\u5371\u6a5f\u306a\u3069\u306e\u75c7\u72b6\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>MMA cblA\u306e\u8a3a\u65ad\u306b\u306f\u3001\u81e8\u5e8a\u691c\u67fb\u3084\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u7528\u3044\u3089\u308c\u307e\u3059\u3002\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u306f\u3001\u30bf\u30f3\u30c7\u30e0\u8cea\u91cf\u5206\u6790\uff08Tandem Mass Spectrometry, MS\/MS\uff09\u3092\u7528\u3044\u3066\u30d7\u30ed\u30d4\u30aa\u30cb\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\uff08C3\uff09\u306e\u4e0a\u6607\u304c\u691c\u51fa\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u3055\u3089\u306b\u3001\u8840\u6f3f\u3084\u5c3f\u4e2d\u306e\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u6fc3\u5ea6\u3092\u6e2c\u5b9a\u3059\u308b\u3053\u3068\u3067\u8a3a\u65ad\u306e\u88dc\u52a9\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u306f\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b9\u6cd5\uff08Next-Generation Sequencing, NGS\uff09\u3084\u6a19\u7684\u907a\u4f1d\u5b50\u89e3\u6790\u3092\u901a\u3058\u3066<em>MMAA<\/em>\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u3092\u540c\u5b9a\u3059\u308b\u3053\u3068\u3067\u3001\u78ba\u5b9a\u8a3a\u65ad\u304c\u53ef\u80fd\u3068\u306a\u308a\u307e\u3059\u3002\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u3001\u7dda\u7dad\u82bd\u7d30\u80de\u3092\u7528\u3044\u305f\u30b3\u30d0\u30e9\u30df\u30f3\u53d6\u308a\u8fbc\u307f\u8a66\u9a13\uff08Cobalamin Incorporation Studies\uff09\u306b\u3088\u308a\u3001\u9175\u7d20\u6a5f\u80fd\u3092\u8a55\u4fa1\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>MMA cblA\u306e\u6cbb\u7642\u306b\u306f\u3001\u98df\u4e8b\u7ba1\u7406\u3001\u85ac\u7269\u7642\u6cd5\u3001\u652f\u6301\u7642\u6cd5\u3092\u7d44\u307f\u5408\u308f\u305b\u305f\u5305\u62ec\u7684\u306a\u30a2\u30d7\u30ed\u30fc\u30c1\u304c\u5fc5\u8981\u3067\u3059\u3002\u30d2\u30c9\u30ed\u30ad\u30bd\u30b3\u30d0\u30e9\u30df\u30f3\uff08\u30d3\u30bf\u30df\u30f3B12\u306e\u4e00\u7a2e\uff09\u306b\u5bfe\u3059\u308b\u53cd\u5fdc\u6027\u304c\u9ad8\u3044\u3053\u3068\u304b\u3089\u3001\u3053\u306e\u6cbb\u7642\u304c\u6700\u3082\u91cd\u8981\u3068\u3055\u308c\u307e\u3059\u3002\u5b9a\u671f\u7684\u306a\u30d2\u30c9\u30ed\u30ad\u30bd\u30b3\u30d0\u30e9\u30df\u30f3\u306e\u7b4b\u8089\u5185\u6ce8\u5c04\u306b\u3088\u308a\u3001\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u306e\u84c4\u7a4d\u3092\u6291\u3048\u3001\u4ee3\u8b1d\u306e\u5b89\u5b9a\u5316\u3092\u56f3\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u98df\u4e8b\u7642\u6cd5\u3068\u3057\u3066\u306f\u3001\u30d7\u30ed\u30d4\u30aa\u30f3\u9178\u3092\u751f\u3058\u308b\u30a2\u30df\u30ce\u9178\uff08\u30d0\u30ea\u30f3\u3001\u30a4\u30bd\u30ed\u30a4\u30b7\u30f3\u3001\u30e1\u30c1\u30aa\u30cb\u30f3\u3001\u30b9\u30ec\u30aa\u30cb\u30f3\uff09\u306e\u6442\u53d6\u3092\u5236\u9650\u3057\u3064\u3064\u3001\u5341\u5206\u306a\u30ab\u30ed\u30ea\u30fc\u6442\u53d6\u3092\u78ba\u4fdd\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002\u3055\u3089\u306b\u3001\u30ab\u30eb\u30cb\u30c1\u30f3\u88dc\u5145\u7642\u6cd5\u3092\u4f75\u7528\u3059\u308b\u3053\u3068\u3067\u3001\u6709\u5bb3\u306a\u6709\u6a5f\u9178\u306e\u6392\u51fa\u3092\u4fc3\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6025\u6027\u306e\u4ee3\u8b1d\u5371\u6a5f\u304c\u767a\u751f\u3057\u305f\u5834\u5408\u306b\u306f\u3001\u901f\u3084\u304b\u306b\u9759\u8108\u5185\u8f38\u6db2\u3084\u30b0\u30eb\u30b3\u30fc\u30b9\u6295\u4e0e\u3092\u884c\u3044\u3001\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\uff08\u8840\u6db2\u306e\u9178\u6027\u5316\uff09\u306e\u662f\u6b63\u3092\u884c\u3046\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u6162\u6027\u814e\u75be\u60a3\u306e\u9032\u884c\u3092\u6291\u3048\u308b\u305f\u3081\u306b\u3001\u5b9a\u671f\u7684\u306a\u814e\u6a5f\u80fd\u306e\u8a55\u4fa1\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u75c7\u4f8b\u3067\u306f\u3001\u809d\u79fb\u690d\u3084\u814e\u79fb\u690d\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u6839\u672c\u7684\u306a\u6cbb\u7642\u306b\u306f\u306a\u3089\u306a\u3044\u305f\u3081\u3001\u614e\u91cd\u306a\u5224\u65ad\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>MMA cblA\u306f\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u6cbb\u7642\u306b\u3088\u308a\u3001\u4ed6\u306eMMA\u306e\u30bf\u30a4\u30d7\u3068\u6bd4\u3079\u3066\u6bd4\u8f03\u7684\u826f\u597d\u306a\u7d4c\u904e\u3092\u305f\u3069\u308b\u3053\u3068\u304c\u591a\u3044\u75be\u60a3\u3067\u3059\u3002<em>MMUT<\/em>\u95a2\u9023\u306eMMA\u3068\u7570\u306a\u308a\u3001MMA cblA\u306e\u60a3\u8005\u306b\u306f\u3042\u308b\u7a0b\u5ea6\u306e\u9175\u7d20\u6d3b\u6027\u304c\u6b8b\u5b58\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u75c5\u72b6\u306f\u6bd4\u8f03\u7684\u8efd\u5ea6\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u6162\u6027\u814e\u75be\u60a3\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u4ee3\u8b1d\u5371\u6a5f\u306e\u30ea\u30b9\u30af\u306f\u4f9d\u7136\u3068\u3057\u3066\u5b58\u5728\u3057\u3001\u7d99\u7d9a\u7684\u306a\u6cbb\u7642\u3068\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u3002\u30d2\u30c9\u30ed\u30ad\u30bd\u30b3\u30d0\u30e9\u30df\u30f3\u7642\u6cd5\u3092\u7d99\u7d9a\u3059\u308b\u3053\u3068\u3067\u3001\u75c5\u614b\u306e\u9032\u884c\u3092\u6291\u3048\u3001\u91cd\u7be4\u306a\u81d3\u5668\u969c\u5bb3\u306e\u30ea\u30b9\u30af\u3092\u4f4e\u6e1b\u3067\u304d\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u4eca\u5f8c\u306e\u7814\u7a76\u306b\u3088\u308a\u3001\u65b0\u305f\u306a\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-group references\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\">\u5f15\u7528\u6587\u732e\uff5cReferences<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.tem.2023.11.001\">Tejero, J., Lazure, F., &amp; Gomes, A. P. (2024). Methylmalonic acid in aging and disease. <em>Trends in Endocrinology &amp; Metabolism<\/em>, <em>35<\/em>(3), 188\u2013200. https:\/\/doi.org\/10.1016\/j.tem.2023.11.001<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/jimd.12636\">Manoli, I., Gebremariam, A., McCoy, S., Pass, A. R., Gagn\u00e9, J., Hall, C., Ferry, S., Van Ryzin, C., Sloan, J. L., Sacchetti, E., Catesini, G., Rizzo, C., Martinelli, D., Spada, M., Dionisi\u2010Vici, C., &amp; Venditti, C. P. (2023). Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia. <em>Journal of Inherited Metabolic Disease<\/em>, <em>46<\/em>(4), 554\u2013572. https:\/\/doi.org\/10.1002\/jimd.12636<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/jimd.12525\">Marelli, C., Fouilhoux, A., Benoist, J., De Lonlay, P., Guffon\u2010Fouilhoux, N., Brassier, A., Cano, A., Chabrol, B., Pennisi, A., Schiff, M., Acquaviva, C., Murphy, E., Servais, A., &amp; Lachmann, R. (2022). Very long\u2010term outcomes in 23 patients with cblA type methylmalonic acidemia. <em>Journal of Inherited Metabolic Disease<\/em>, <em>45<\/em>(5), 937\u2013951. https:\/\/doi.org\/10.1002\/jimd.12525<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/jimd.12297\">H\u00f6rster, F., Tuncel, A. T., Gleich, F., Plessl, T., Froese, S. D., Garbade, S. F., K\u00f6lker, S., Baumgartner, M. R., &amp; Additional Contributors from E\u2010IMD. (2021). Delineating the clinical spectrum of isolated methylmalonic acidurias: <em>cblA<\/em> and <em>mut<\/em>. <em>Journal of Inherited Metabolic Disease<\/em>, <em>44<\/em>(1), 193\u2013214. https:\/\/doi.org\/10.1002\/jimd.12297<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC5214677\/\">Keyfi, F., Talebi, S., &amp; Varasteh, A. R. (2016). Methylmalonic Acidemia Diagnosis by Laboratory Methods. <em>Reports of biochemistry &amp; molecular biology<\/em>, <em>5<\/em>(1), 1\u201314.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/europepmc.org\/article\/NBK\/nbk1231#free-full-text\">Manoli I, Sloan JL, Venditti CP. Isolated Methylmalonic Acidemia. In: GeneReviews\u00ae. University of Washington, Seattle, Seattle (WA); 1993. PMID: 20301409.<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":29,"template":"page_gd.php","class_list":["post-33759","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\/33759","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\/33759\/revisions"}],"predecessor-version":[{"id":127744,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33759\/revisions\/127744"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33759"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}