{"id":136700,"date":"2026-09-08T12:23:13","date_gmt":"2026-09-08T03:23:13","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=136700"},"modified":"2026-09-08T12:23:13","modified_gmt":"2026-09-08T03:23:13","slug":"mitochondrial-trifunctional-protein-deficiency-2-hadhb","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mitochondrial-trifunctional-protein-deficiency-2-hadhb\/","title":{"rendered":"\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u4e09\u982d\u9175\u7d20\u6b20\u640d\u75c72\u578b"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n\n<p>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u4e09\u982d\u9175\u7d20\u6b20\u640d\u75c7\u306f\u3001\u8102\u80aa\u3092\u30a8\u30cd\u30eb\u30ae\u30fc\u306b\u5909\u3048\u308b\u904e\u7a0b\u306e3\u3064\u306e\u50cd\u304d\u3092\u307e\u3068\u3081\u3066\u62c5\u3046\u9175\u7d20\u304c\u306f\u305f\u3089\u304b\u306a\u3044\u75c5\u6c17\u3067\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001<strong>HADHB<\/strong> \u907a\u4f1d\u5b50\uff08\u03b2\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\uff09\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u75c7\u578b\u3067\u306f<strong>\u5fc3\u7b4b\u75c7\u3068\u7a81\u7136\u6b7b<\/strong>\u3001\u8efd\u75c7\u578b\u3067\u306f<strong>\u672b\u68a2\u795e\u7d4c\u306e\u969c\u5bb3\u3084\u904b\u52d5\u5f8c\u306e\u6a2a\u7d0b\u7b4b\u878d\u89e3\u75c7<\/strong>\u304c\u73fe\u308c\u307e\u3059\u3002\u65e5\u672c\u3067\u306f\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u5bfe\u8c61\u3067\u3059\u3002<strong>\u598a\u5a20\u4e2d\u306e\u6bcd\u4f53\u306b\u91cd\u3044\u5408\u4f75\u75c7\uff08HELLP\u75c7\u5019\u7fa4\u3001\u6025\u6027\u8102\u80aa\u809d\uff09\u3092\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308b<\/strong>\u70b9\u3082\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n\n<p><strong>HADHB<\/strong> \u907a\u4f1d\u5b50\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u4e09\u982d\u9175\u7d20\uff08TFP\uff09\u306e\u03b2\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002TFP\u306f\u03b1\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\uff08HADHA\uff09\u3068\u03b2\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u304b\u3089\u306a\u308a\u3001\u9577\u9396\u8102\u80aa\u9178\u3092\u5206\u89e3\u3059\u308b4\u6bb5\u968e\u306e\u3046\u3061<strong>3\u3064\u306e\u53cd\u5fdc\u3092\u307e\u3068\u3081\u3066\u62c5\u5f53<\/strong>\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9175\u7d20\u304c\u306f\u305f\u3089\u304b\u306a\u3044\u3068\u3001\u7d76\u98df\u6642\u306a\u3069\u306b\u9577\u9396\u8102\u80aa\u9178\u3092\u30a8\u30cd\u30eb\u30ae\u30fc\u306b\u5909\u3048\u3089\u308c\u307e\u305b\u3093\u3002\u540c\u6642\u306b\u3001\u5206\u89e3\u3055\u308c\u306a\u304b\u3063\u305f\u4e2d\u9593\u7523\u7269\u304c\u5fc3\u81d3\u30fb\u7b4b\u8089\u30fb\u795e\u7d4c\u306b\u305f\u307e\u3063\u3066\u969c\u5bb3\u3092\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u91cd\u75c7\u578b\uff08\u65b0\u751f\u5150\u30fb\u4e73\u5150\u671f\uff09<\/strong>\uff1a\u5fc3\u7b4b\u75c7\u3001\u4e0d\u6574\u8108\u3001\u4f4e\u30b1\u30c8\u30f3\u6027\u4f4e\u8840\u7cd6\u3001\u809d\u81d3\u306e\u816b\u5927\u3001\u7a81\u7136\u6b7b<\/li>\n\n\n\n<li><strong>\u4e2d\u9593\u578b<\/strong>\uff1a\u767a\u71b1\u3084\u7d76\u98df\u3092\u304d\u3063\u304b\u3051\u3068\u3057\u305f\u4f4e\u8840\u7cd6\u767a\u4f5c\u3001\u809d\u969c\u5bb3<\/li>\n\n\n\n<li><strong>\u8efd\u75c7\u578b\uff08\u9045\u767a\u578b\uff09<\/strong>\uff1a<strong>\u9032\u884c\u6027\u306e\u672b\u68a2\u795e\u7d4c\u969c\u5bb3<\/strong>\uff08\u624b\u8db3\u306e\u3057\u3073\u308c\u3001\u7b4b\u529b\u4f4e\u4e0b\uff09\u3001\u904b\u52d5\u5f8c\u306e\u6a2a\u7d0b\u7b4b\u878d\u89e3\u75c7\uff08\u8336\u8272\u3044\u5c3f\uff09<\/li>\n\n\n\n<li>\u8272\u7d20\u6027\u7db2\u819c\u75c7\uff08\u9032\u884c\u3059\u308b\u3068\u8996\u529b\u306b\u5f71\u97ff\u3057\u307e\u3059\uff09<\/li>\n\n\n\n<li><strong>\u80ce\u5150\u304c\u3053\u306e\u75c5\u6c17\u306e\u5834\u5408\u3001\u6bcd\u4f53\u306bHELLP\u75c7\u5019\u7fa4\u3084\u598a\u5a20\u6027\u6025\u6027\u8102\u80aa\u809d\u304c\u8d77\u3053\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/strong><\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n\n<p>\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u3001\u8840\u6db2\u4e2d\u306e\u9577\u9396\u30d2\u30c9\u30ed\u30ad\u30b7\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\uff08C16-OH\u3001C18:1-OH\uff09\u304c\u9ad8\u3044\u3053\u3068\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u3002<strong>HADHA<\/strong> \u307e\u305f\u306f <strong>HADHB<\/strong> \u907a\u4f1d\u5b50\u306e\u89e3\u6790\u3001\u57f9\u990a\u3057\u305f\u76ae\u819a\u306e\u7d30\u80de\u3067\u306e\u9175\u7d20\u6d3b\u6027\u306e\u6e2c\u5b9a\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7d76\u98df\u3092\u907f\u3051\u308b<\/strong>\uff08\u5e74\u9f62\u306b\u5fdc\u3058\u305f\u9593\u9694\u3067\u5fc5\u305a\u98df\u4e8b\u3092\u3068\u308b\uff09<\/li>\n\n\n\n<li>\u9577\u9396\u8102\u80aa\u3092\u63a7\u3048\u3001<strong>\u4e2d\u9396\u8102\u80aa\u9178\uff08MCT\uff09<\/strong>\u3092\u7528\u3044\u305f\u98df\u4e8b\u7642\u6cd5<\/li>\n\n\n\n<li>\u4f53\u8abf\u304c\u60aa\u3044\u3068\u304d\u306f\u65e9\u3081\u306b\u53d7\u8a3a\u3057\u3001\u30d6\u30c9\u30a6\u7cd6\u306e\u70b9\u6ef4\u3092\u53d7\u3051\u308b\uff08\u30b7\u30c3\u30af\u30c7\u30a4\u5bfe\u5fdc\uff09<\/li>\n\n\n\n<li>\u6fc0\u3057\u3044\u904b\u52d5\u3084\u9577\u6642\u9593\u306e\u904b\u52d5\u3092\u907f\u3051\u308b<\/li>\n\n\n\n<li>\u5b9a\u671f\u7684\u306a\u5fc3\u30a8\u30b3\u30fc\u3001\u795e\u7d4c\u5b66\u7684\u8a55\u4fa1\u3001\u773c\u79d1\u306e\u8a3a\u5bdf<\/li>\n\n\n\n<li>\u30ab\u30eb\u30cb\u30c1\u30f3\u306e\u88dc\u5145\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>HADHB<\/strong> \u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u767a\u75c7\u524d\u3084\u51fa\u751f\u524d\u306b\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u6b21\u306e2\u3064\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09<\/h3>\n\n\n\n<p>\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u306b\u3042\u305f\u308b\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u307e\u3068\u3081\u3066\u8aad\u307f\u53d6\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u89e3\u6790\u3092\u884c\u3063\u305f\u3046\u3048\u3067\u3001<strong>HADHB<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u3080<strong>1,200\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u306b\u8abf\u3079\u3001<strong>\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059<\/strong>\u3002\u56fd\u5185\u306e\u691c\u67fb\u6240\u3067\u884c\u3044\u3001\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f5\u9031\u9593\u301c7\u9031\u9593\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\uff08228\u7a2e\u985e\uff09<\/h3>\n\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306f\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u304a\u5b50\u3055\u307e\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u3067\u306f\u3001\u3054\u592b\u5a66\u304c\u3053\u306e\u75be\u60a3\u306e\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u982c\u306e\u5185\u5074\u306e\u7c98\u819c\u304b\u3089\u8abf\u3079\u3001<strong>\u304a\u5b50\u3055\u307e\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u53ef\u80fd\u6027\u3092\u3001\u598a\u5a20\u524d\u3084\u51fa\u751f\u524d\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059<\/strong>\u3002<\/p>\n\n\n\n<p>\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/autosomal-recessive-inheritance\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8228<\/a> \u306e\u30da\u30fc\u30b8\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n\n<p>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u4e09\u982d\u9175\u7d20\uff08TFP\uff09\u6b20\u640d\u75c7\u306f <strong>HADHA<\/strong>\uff08\u03b1\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\uff09\u307e\u305f\u306f <strong>HADHB<\/strong>\uff08\u03b2\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u30012p23.3\uff09\u306e\u4e21\u30a2\u30ec\u30eb\u5909\u7570\u306b\u3088\u308b\u3002TFP\u306f\u9577\u9396\u30a8\u30ce\u30a4\u30ebCoA\u30d2\u30c9\u30e9\u30bf\u30fc\u30bc\u3001\u9577\u93963-\u30d2\u30c9\u30ed\u30ad\u30b7\u30a2\u30b7\u30ebCoA\u8131\u6c34\u7d20\u9175\u7d20\uff08LCHAD\uff09\u3001\u9577\u93963-\u30b1\u30c8\u30a2\u30b7\u30ebCoA\u30c1\u30aa\u30e9\u30fc\u30bc\u306e3\u6d3b\u6027\u3092\u6709\u3059\u308b\u30d8\u30c6\u30ed8\u91cf\u4f53\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p><strong>HADHA<\/strong> \u306e c.1528G>C\uff08p.Glu510Gln\uff09\u306f LCHAD\u6d3b\u6027\u306e\u307f\u3092\u9078\u629e\u7684\u306b\u969c\u5bb3\u3059\u308b\uff08LCHAD\u6b20\u640d\u75c7\uff09\u306e\u306b\u5bfe\u3057\u3001<strong>HADHB<\/strong> \u5909\u7570\u3067\u306f\u901a\u5e383\u6d3b\u6027\u3059\u3079\u3066\u304c\u4f4e\u4e0b\u3057\u3001TFP\u5b8c\u5168\u6b20\u640d\u75c7\u3068\u306a\u308b\u3002\u81e8\u5e8a\u7684\u306b\u306fTFP\u6b20\u640d\u75c7\u306e\u307b\u3046\u304c\u91cd\u75c7\u5316\u3057\u3084\u3059\u3044\u3002<\/p>\n\n\n\n<p>\u81e8\u5e8a\u578b\u306f\u3001\u65b0\u751f\u5150\u671f\u767a\u75c7\u306e\u91cd\u75c7\u578b\uff08\u5fc3\u7b4b\u75c7\u30fb\u7a81\u7136\u6b7b\uff09\u3001\u4e73\u5e7c\u5150\u671f\u306e\u809d\u578b\u3001\u9045\u767a\u6027\u306e\u795e\u7d4c\u7b4b\u578b\u306b\u5206\u304b\u308c\u308b\u3002<strong>\u9045\u767a\u578b\u3067\u306f\u9032\u884c\u6027\u306e\u672b\u68a2\u795e\u7d4c\u969c\u5bb3\u304c\u524d\u666f\u306b\u7acb\u3061<\/strong>\u3001\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c5\u3068\u8aa4\u8a3a\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308b\u3002\u8272\u7d20\u6027\u7db2\u819c\u75c7\u306e\u5408\u4f75\u3082\u7279\u5fb4\u7684\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p><strong>\u80ce\u5150\u304cLCHAD\/TFP\u6b20\u640d\u75c7\u306e\u5834\u5408\u3001\u6bcd\u4f53\u306bHELLP\u75c7\u5019\u7fa4\u3084\u598a\u5a20\u6027\u6025\u6027\u8102\u80aa\u809d\uff08AFLP\uff09\u304c\u9ad8\u7387\u306b\u767a\u75c7\u3059\u308b<\/strong>\u3053\u3068\u304c\u77e5\u3089\u308c\u308b\u3002\u6bcd\u4f53\u5408\u4f75\u75c7\u306e\u65e2\u5f80\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5150\u306e\u8102\u80aa\u9178\u9178\u5316\u7570\u5e38\u75c7\u306e\u691c\u7d22\u3092\u8003\u616e\u3059\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u3069\u3093\u306a\u3068\u304d\u306b\u75c7\u72b6\u304c\u51fa\u3084\u3059\u3044\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u98df\u4e8b\u3092\u3068\u308c\u306a\u3044\u3068\u304d\u3001\u71b1\u304c\u51fa\u305f\u3068\u304d\u3001\u4e0b\u75e2\u3084\u5614\u5410\u304c\u7d9a\u304f\u3068\u304d\u3001\u9577\u6642\u9593\u306e\u904b\u52d5\u3092\u3057\u305f\u3068\u304d\u3067\u3059\u3002\u65e9\u3081\u306b\u53d7\u8a3a\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u8336\u8272\u3044\u5c3f\u304c\u51fa\u307e\u3057\u305f\u3002<\/h3>\n\n\n\n<p>A. \u7b4b\u8089\u304c\u58ca\u308c\u3066\u3044\u308b\u30b5\u30a4\u30f3\uff08\u6a2a\u7d0b\u7b4b\u878d\u89e3\u75c7\uff09\u306e\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u3059\u3050\u306b\u53d7\u8a3a\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u624b\u8db3\u306e\u3057\u3073\u308c\u304c\u51fa\u3066\u304d\u307e\u3057\u305f\u3002<\/h3>\n\n\n\n<p>A. \u3053\u306e\u75c5\u6c17\u3067\u306f\u672b\u68a2\u795e\u7d4c\u306e\u969c\u5bb3\u304c\u9032\u3080\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u62c5\u5f53\u306e\u5148\u751f\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u598a\u5a20\u4e2d\u306b\u6bcd\u4f53\u304c\u5177\u5408\u3092\u60aa\u304f\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u3068\u805e\u304d\u307e\u3057\u305f\u3002<\/h3>\n\n\n\n<p>A. \u80ce\u5150\u304c\u3053\u306e\u75c5\u6c17\u306e\u5834\u5408\u3001\u6bcd\u4f53\u306bHELLP\u75c7\u5019\u7fa4\u3084\u6025\u6027\u8102\u80aa\u809d\u304c\u8d77\u3053\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u598a\u5a20\u306e\u7ba1\u7406\u3067\u306f\u3001\u3053\u306e\u70b9\u3092\u7523\u79d1\u306e\u5148\u751f\u306b\u304a\u4f1d\u3048\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u76ee\u306e\u691c\u67fb\u306f\u5fc5\u8981\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u8272\u7d20\u6027\u7db2\u819c\u75c7\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u773c\u79d1\u306e\u8a3a\u5bdf\u3092\u304a\u3059\u3059\u3081\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Ushikubo S, Aoyama T, Kamijo T, et al. Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits. <em>Am J Hum Genet<\/em>. 1996;58(5):979-988.<\/li>\n\n\n\n<li>Spiekerkoetter U, Bastin J, Gillingham M, et al. Current issues regarding treatment of mitochondrial fatty acid oxidation disorders. <em>J Inherit Metab Dis<\/em>. 2010;33(5):555-561.<\/li>\n\n\n\n<li>Ibdah JA, Bennett MJ, Rinaldo P, et al. A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. <em>N Engl J Med<\/em>. 1999;340(22):1723-1731.<\/li>\n\n\n\n<li>Bo R, Yamada K, Kobayashi H, et al. Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases. <em>J Hum Genet<\/em>. 2017;62(9):809-814.<\/li>\n\n\n\n<li>OMIM #609015 Trifunctional protein deficiency<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136700","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\/136700","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":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136700\/revisions"}],"predecessor-version":[{"id":137070,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136700\/revisions\/137070"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136700"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}