{"id":33712,"date":"2022-07-12T09:59:05","date_gmt":"2022-07-12T00:59:05","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33712"},"modified":"2026-04-28T11:56:03","modified_gmt":"2026-04-28T02:56:03","slug":"ornithine-translocase-deficiency-hyperornithinemia-hyperammonemia","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ornithine-translocase-deficiency-hyperornithinemia-hyperammonemia\/","title":{"rendered":"\u9ad8\u30aa\u30eb\u30cb\u30c1\u30f3\u8840\u75c7-\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7<Br>\u30db\u30e2\u30b7\u30c8\u30eb\u30ea\u30f3\u8840\u75c7\uff08HHH\uff09\u75c7\u5019\u7fa4"},"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>\u30aa\u30eb\u30cb\u30c1\u30f3\u306e\u8f38\u9001\u7570\u5e38\u304c\u5f15\u304d\u8d77\u3053\u3059HHH\u75c7\u5019\u7fa4\u3002\u8840\u4e2d\u30a2\u30f3\u30e2\u30cb\u30a2\u306e\u84c4\u7a4d\u304c\u795e\u7d4c\u3084\u809d\u6a5f\u80fd\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u3001\u65b0\u751f\u5150\u304b\u3089\u6210\u4eba\u307e\u3067\u5e45\u5e83\u3044\u767a\u75c7\u30d1\u30bf\u30fc\u30f3\u3092\u793a\u3057\u307e\u3059\u3002\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308b\u3053\u306e\u7a00\u306a\u4ee3\u8b1d\u75be\u60a3\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u3068\u7ba1\u7406\u65b9\u6cd5\u3092\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>SLC25A15\uff5cOrnithine Translocase Deficiency [Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome]<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u30cf\u30a4\u30d1\u30fc\u30aa\u30eb\u30cb\u30c1\u30f3\u8840\u75c7\u2010\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\u2010\u30db\u30e2\u30b7\u30c8\u30eb\u30ea\u30f3\u5c3f\u75c7\uff08HHH\u75c7\u5019\u7fa4\uff09\u306f\u3001<strong>SLC25A15<\/strong>\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b<strong>\u6975\u3081\u3066\u307e\u308c\u306a\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u4ee3\u8b1d\u75be\u60a3<\/strong>\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u306e\u30aa\u30eb\u30cb\u30c1\u30f3\u30c8\u30e9\u30f3\u30b9\u30ed\u30ab\u30fc\u30bc\uff08ORNT1\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001<strong>\u5c3f\u7d20\u56de\u8def<\/strong>\u306b\u304a\u3044\u3066\u30aa\u30eb\u30cb\u30c1\u30f3\u3092\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u306b\u8f38\u9001\u3059\u308b\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u5c3f\u7d20\u56de\u8def\u306f\u3001\u4f53\u5185\u306e\u4f59\u5206\u306a\u30a2\u30f3\u30e2\u30cb\u30a2\u3092\u89e3\u6bd2\u3057\u3001\u5c3f\u7d20\u3068\u3057\u3066\u6392\u51fa\u3059\u308b\u91cd\u8981\u306a\u4ee3\u8b1d\u7d4c\u8def\u3067\u3059\u3002\u3057\u304b\u3057\u3001SLC25A15\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u751f\u3058\u308b\u3068\u3001\u3053\u306e\u8f38\u9001\u6a5f\u80fd\u304c\u969c\u5bb3\u3055\u308c\u3001\u8840\u6db2\u4e2d\u306e\u30aa\u30eb\u30cb\u30c1\u30f3\u6fc3\u5ea6\u304c\u4e0a\u6607\uff08\u9ad8\u30aa\u30eb\u30cb\u30c1\u30f3\u8840\u75c7\uff09\u3057\u3001\u30a2\u30f3\u30e2\u30cb\u30a2\u306e\u84c4\u7a4d\uff08\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\uff09\u3001\u304a\u3088\u3073\u30db\u30e2\u30b7\u30c8\u30eb\u30ea\u30f3\u306e\u5c3f\u4e2d\u6392\u6cc4\u5897\u52a0\uff08\u30db\u30e2\u30b7\u30c8\u30eb\u30ea\u30f3\u5c3f\u75c7\uff09\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>HHH\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u75c7\u72b6\u306b\u306f<strong>\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f<\/strong>\u3001<strong>\u65b0\u751f\u5150\u671f\u304b\u3089\u6210\u4eba\u671f\u307e\u3067\u69d8\u3005\u306a\u6642\u671f\u306b\u767a\u75c7<\/strong>\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4e3b\u306a\u75c7\u72b6\u3068\u3057\u3066\u3001<strong>\u795e\u7d4c\u8a8d\u77e5\u6a5f\u80fd\u306e\u4f4e\u4e0b\u3001\u809d\u6a5f\u80fd\u969c\u5bb3\u3001\u4ee3\u8b1d\u30b9\u30c8\u30ec\u30b9\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u6025\u6027\u4ee3\u8b1d\u30af\u30ea\u30fc\u30bc<\/strong>\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u4ee3\u8b1d\u30b9\u30c8\u30ec\u30b9\u306b\u306f\u3001<strong>\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u6442\u53d6\u3001\u611f\u67d3\u75c7\u3001\u7d76\u98df\u3001\u4ee3\u8b1d\u7684\u30b9\u30c8\u30ec\u30b9<\/strong>\u306a\u3069\u304c\u95a2\u4e0e\u3057\u307e\u3059\u3002\u9032\u884c\u6027\u306e\u75be\u60a3\u3067\u3059\u304c\u3001<strong>\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u98df\u4e8b\u7642\u6cd5\u304a\u3088\u3073\u85ac\u7269\u7642\u6cd5\u306b\u3088\u3063\u3066\u75c7\u72b6\u3092\u8efd\u6e1b\u3057\u3001\u7d4c\u904e\u3092\u6539\u5584\u3067\u304d\u308b\u53ef\u80fd\u6027<\/strong>\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>HHH\u75c7\u5019\u7fa4\u306f<strong>\u6975\u3081\u3066\u7a00\u306a\u75be\u60a3<\/strong>\u3067\u3042\u308a\u3001\u65b0\u751f\u51501,000,000\uff5e2,000,000\u4eba\u3042\u305f\u308a<strong>1\u4eba\u4ee5\u4e0b<\/strong>\u306e\u767a\u75c7\u983b\u5ea6\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001<strong>\u7279\u5b9a\u306e\u96c6\u56e3\u3067\u306f\u767a\u75c7\u7387\u304c\u9ad8\u3044\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059<\/strong>\u3002\u4f8b\u3048\u3070\u3001<strong>\u30ab\u30ca\u30c0\u306e\u30d5\u30e9\u30f3\u30b9\u7cfb\u4f4f\u6c11<\/strong>\u3067\u306f\u3001<strong>\u5275\u59cb\u8005\u7a81\u7136\u5909\u7570\uff08c.562_564delTTC, p.Phe188del\uff09\u304c\u539f\u56e0\u3068\u306a\u308a\u3001\u3042\u308b\u5317\u30b5\u30b9\u30ab\u30c1\u30e5\u30ef\u30f3\u5730\u57df\u3067\u306f\u3001\u65b0\u751f\u51501,550\u4eba\u306b1\u4eba<\/strong>\u3068\u3044\u3046\u9ad8\u3044\u767a\u75c7\u7387\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u65e5\u672c\u4eba\u304a\u3088\u3073\u4e2d\u6771\u5730\u57df\u306b\u304a\u3044\u3066\u306f\u3001c.535C&gt;T\uff08p.Arg179Ter\uff09\u3068\u3044\u3046\u75c5\u7684\u5909\u7570\u304c\u983b\u7e41\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30a2\u30e1\u30ea\u30ab\u3067\u306f\u3001\u5c3f\u7d20\u56de\u8def\u7570\u5e38\u75c7\uff08UCDs\uff09\u306e\u3046\u30611\uff05<strong>\u304cHHH\u75c7\u5019\u7fa4\u306b\u3088\u308b\u3082\u306e\u3067\u3042\u308a\u3001\u30e8\u30fc\u30ed\u30c3\u30d1\u3067\u306fUCD\u5168\u4f53\u306e<\/strong>\u7d043\uff05\u3092\u5360\u3081\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u30021969\u5e74\u306b\u521d\u3081\u3066\u5831\u544a\u3055\u308c\u3066\u4ee5\u6765\u3001<strong>\u533b\u5b66\u6587\u732e\u306b\u306f\u7d04122\u4f8b\u306e\u75c7\u4f8b\u304c\u8a18\u8f09<\/strong>\u3055\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>HHH\u75c7\u5019\u7fa4\u306f\u3001\u5e38\u67d3\u8272\u4f53\u4e0a\u306b\u4f4d\u7f6e\u3059\u308b<strong>SLC25A15\u907a\u4f1d\u5b50\uff0813q14\uff09\u306b\u304a\u3051\u308b\u75c5\u7684\u5909\u7570\u304c\u4e21\u65b9\u306e\u5bfe\u7acb\u907a\u4f1d\u5b50\u306b\u751f\u3058\u305f\uff08\u30d0\u30a4\u30a2\u30ec\u30ea\u30c3\u30af\u75c5\u7684\u5909\u7570\uff09\u5834\u5408\u306b\u767a\u75c7<\/strong>\u3057\u307e\u3059\u3002SLC25A15\u907a\u4f1d\u5b50\u304c\u30b3\u30fc\u30c9\u3059\u308b\u30aa\u30eb\u30cb\u30c1\u30f3\u30c8\u30e9\u30f3\u30b9\u30ed\u30ab\u30fc\u30bc\uff08ORNT1\uff09\u306f\u3001<strong>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u819c\u3092\u901a\u3058\u3066\u30aa\u30eb\u30cb\u30c1\u30f3\u3092\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u306b\u8f38\u9001\u3059\u308b\u5f79\u5272<\/strong>\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u8f38\u9001\u304c\u969c\u5bb3\u3055\u308c\u308b\u3068\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u4ee3\u8b1d\u7570\u5e38\u304c\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8840\u6f3f\u4e2d\u306e\u30aa\u30eb\u30cb\u30c1\u30f3\u6fc3\u5ea6\u306e\u4e0a\u6607\uff08\u9ad8\u30aa\u30eb\u30cb\u30c1\u30f3\u8840\u75c7\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u5c3f\u7d20\u56de\u8def\u306e\u6a5f\u80fd\u4e0d\u5168\u306b\u3088\u308b\u30a2\u30f3\u30e2\u30cb\u30a2\u306e\u84c4\u7a4d\uff08\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u30aa\u30eb\u30cb\u30c1\u30f3\u304c\u7570\u5e38\u306a\u4ee3\u8b1d\u7d4c\u8def\u306b\u5165\u308a\u3001\u30db\u30e2\u30b7\u30c8\u30eb\u30ea\u30f3\u306e\u5c3f\u4e2d\u6392\u6cc4\u304c\u5897\u52a0\uff08\u30db\u30e2\u30b7\u30c8\u30eb\u30ea\u30f3\u5c3f\u75c7\uff09<\/strong><\/li>\n<\/ul>\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<h3 class=\"hidden-heading\"><\/h3>\n\n\n\n<p>HHH\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f<strong>\u767a\u75c7\u5e74\u9f62\u306b\u3088\u3063\u3066\u7570\u306a\u308a<\/strong>\u3001\u4e3b\u306b\u65b0\u751f\u5150\u767a\u75c7\u578b\uff08\u7d048%\uff09<strong>\u3068<\/strong>\u9045\u767a\u578b\uff08\u4e73\u5150\u671f\u30fb\u5c0f\u5150\u671f\u30fb\u6210\u4eba\u671f\u767a\u75c7\u3001\u7d0492%\uff09\u306e2\u3064\u306e\u30bf\u30a4\u30d7\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\">\u65b0\u751f\u5150\u767a\u75c7\u578b\uff08\u5168\u4f53\u306e\u7d048%\uff09<\/h4>\n\n\n\n<p>\u751f\u5f8c<strong>24\uff5e48\u6642\u9593\u4ee5\u5185<\/strong>\u306b\u521d\u767a\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002\u4e3b\u306a\u75c7\u72b6\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5f37\u3044\u7720\u6c17\uff08\u55dc\u7720\uff09\u3084\u610f\u8b58\u4f4e\u4e0b<\/strong><\/li>\n\n\n\n<li><strong>\u6388\u4e73\u4e0d\u826f\u3084\u5614\u5410<\/strong><\/li>\n\n\n\n<li><strong>\u547c\u5438\u6027\u30a2\u30eb\u30ab\u30ed\u30fc\u30b7\u30b9\uff08\u983b\u547c\u5438\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u75d9\u6523\uff08\u3051\u3044\u308c\u3093\uff09\u767a\u4f5c<\/strong><\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">\u9045\u767a\u578b\uff08\u5c0f\u5150\uff5e\u6210\u4eba\u767a\u75c7\u3001\u5168\u4f53\u306e\u7d0492%\uff09<\/h4>\n\n\n\n<p>\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u6162\u6027\u75c7\u72b6\u3084\u6025\u6027\u4ee3\u8b1d\u6027\u8133\u75c7\u3092\u7e70\u308a\u8fd4\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u795e\u7d4c\u8a8d\u77e5\u969c\u5bb3\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/learning-disabilities-genetics-support\/\">\u5b66\u7fd2\u969c\u5bb3<\/a>\u3001\u904b\u52d5\u5931\u8abf\u3001\u75d9\u7e2e\u3001\u75d9\u6523\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u6025\u6027\u8133\u75c7\u30a8\u30d4\u30bd\u30fc\u30c9\uff08\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\u306b\u3088\u308b\u610f\u8b58\u969c\u5bb3\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u6162\u6027\u7684\u306a\u809d\u6a5f\u80fd\u969c\u5bb3\uff08\u30c8\u30e9\u30f3\u30b9\u30a2\u30df\u30ca\u30fc\u30bc\u306e\u4e0a\u6607\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u4e0d\u8010\u75c7\u3001\u8efd\u5ea6\u306e\u51dd\u56fa\u969c\u5bb3\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u6b69\u884c\u969c\u5bb3\u3084\u9310\u4f53\u8def\u75c7\u72b6<\/strong><\/li>\n\n\n\n<li><strong>\u9032\u884c\u6027\u306e\u767d\u8cea\u8133\u75c7\uff08\u9069\u5207\u306a\u6cbb\u7642\u3067\u53ef\u9006\u7684\u306a\u5834\u5408\u3042\u308a\uff09<\/strong><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n<h3 class=\"hidden-heading\"><\/h3>\n\n\n\n<h4 class=\"wp-block-heading\">\u751f\u5316\u5b66\u7684\u8a3a\u65ad<\/h4>\n\n\n\n<p>HHH\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306f\u3001\u4ee5\u4e0b\u306e3\u3064\u306e\u7279\u5fb4\u7684\u306a\u4ee3\u8b1d\u7570\u5e38\u306e\u691c\u51fa\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9ad8\u30aa\u30eb\u30cb\u30c1\u30f3\u8840\u75c7\uff08\u8840\u6f3f\u4e2d\u30aa\u30eb\u30cb\u30c1\u30f3\u6fc3\u5ea6\u306e\u4e0a\u6607\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\uff08\u767a\u4f5c\u6027\u307e\u305f\u306f\u98df\u5f8c\u306e\u30a2\u30f3\u30e2\u30cb\u30a2\u84c4\u7a4d\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u30db\u30e2\u30b7\u30c8\u30eb\u30ea\u30f3\u5c3f\u75c7\uff08\u5c3f\u4e2d\u30db\u30e2\u30b7\u30c8\u30eb\u30ea\u30f3\u6fc3\u5ea6\u306e\u4e0a\u6607\uff09<\/strong><\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u691c\u67fb<\/h4>\n\n\n\n<p>\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3001SLC25A15\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306e\u540c\u5b9a\uff08DNA\u30b7\u30fc\u30af\u30a8\u30f3\u30b7\u30f3\u30b0\uff09\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\">\u795e\u7d4c\u753b\u50cf\u30fb\u4ee3\u8b1d\u89e3\u6790<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8133MRI<\/strong>\uff1a\u767d\u8cea\u7570\u5e38\u3001\u5c0f\u8133\u840e\u7e2e\u3001\u8133\u6897\u585e\u69d8\u75c5\u5909\u3001\u57fa\u5e95\u6838\u77f3\u7070\u5316<\/li>\n\n\n\n<li><strong>\u78c1\u6c17\u5171\u9cf4\u30b9\u30da\u30af\u30c8\u30ed\u30b9\u30b3\u30d4\u30fc\uff08MRS\uff09<\/strong>\uff1a\u30b0\u30eb\u30bf\u30df\u30f3-\u30b0\u30eb\u30bf\u30df\u30f3\u9178\uff08Glx\uff09\u30d4\u30fc\u30af\u306e\u4e0a\u6607\uff08\u30a2\u30f3\u30e2\u30cb\u30a2\u9664\u53bb\u5f8c\u306b\u6539\u5584\uff09<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n<h3 class=\"hidden-heading\"><\/h3>\n\n\n\n<h4 class=\"wp-block-heading\">\u6025\u6027\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\u306e\u7ba1\u7406<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30bf\u30f3\u30d1\u30af\u8cea\u6442\u53d6\u306e\u5373\u6642\u4e2d\u6b62<\/strong><\/li>\n\n\n\n<li><strong>\u30d6\u30c9\u30a6\u7cd6\u306e\u9759\u8108\u6295\u4e0e\uff08\u7570\u5316\u72b6\u614b\u306e\u6291\u5236\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u30a2\u30eb\u30ae\u30cb\u30f3\u306e\u9759\u8108\u6295\u4e0e<\/strong><\/li>\n\n\n\n<li><strong>\u30a2\u30f3\u30e2\u30cb\u30a2\u9664\u53bb\u85ac\uff08\u30ca\u30c8\u30ea\u30a6\u30e0\u30d9\u30f3\u30be\u30a8\u30fc\u30c8\u3001\u30ca\u30c8\u30ea\u30a6\u30e0\u30d5\u30a7\u30cb\u30eb\u9162\u9178\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u91cd\u75c7\u4f8b\u3067\u306f\u8840\u6db2\u900f\u6790\u306e\u5b9f\u65bd<\/strong><\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">\u9577\u671f\u7ba1\u7406<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u500b\u5225\u306e\u8010\u5bb9\u7bc4\u56f2\u306b\u5fdc\u3058\u305f\u4f4e\u30bf\u30f3\u30d1\u30af\u98df<\/strong><\/li>\n\n\n\n<li><strong>\u30b7\u30c8\u30eb\u30ea\u30f3\u88dc\u5145\u7642\u6cd5\uff08\u30aa\u30eb\u30cb\u30c1\u30f3\u8f38\u9001\u969c\u5bb3\u3092\u8fc2\u56de\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u30a2\u30f3\u30e2\u30cb\u30a2\u9664\u53bb\u85ac\uff08\u30ca\u30c8\u30ea\u30a6\u30e0\u30d5\u30a7\u30cb\u30eb\u916a\u9178\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u5b9a\u671f\u7684\u306a\u4ee3\u8b1d\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0<\/strong><\/li>\n\n\n\n<li><strong>\u30c8\u30ea\u30ac\u30fc\u306e\u56de\u907f\uff08\u904e\u5270\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u6442\u53d6\u3001\u9577\u6642\u9593\u306e\u7d76\u98df\u3001\u30d0\u30eb\u30d7\u30ed\u9178\u4f7f\u7528\uff09<\/strong><\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">\u809d\u79fb\u690d<\/h4>\n\n\n\n<p><strong>\u6a19\u6e96\u6cbb\u7642\u3067\u306f\u306a\u3044\u304c\u3001\u4e00\u90e8\u306e\u4ee3\u8b1d\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u4e0d\u826f\u4f8b\u3067\u5b9f\u65bd<\/strong>\u3002\u305f\u3060\u3057\u3001<strong>\u809d\u5916\u7d44\u7e54\u306e\u4ee3\u8b1d\u7570\u5e38\u306b\u306f\u52b9\u679c\u304c\u9650\u5b9a\u7684<\/strong>\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u7ba1\u7406\u304c\u884c\u308f\u308c\u305f\u5834\u5408\u3001\u6b63\u5e38\u306a\u767a\u9054\u304c\u53ef\u80fd\u306a\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u91cd\u75c7\u4f8b\u3067\u306f<strong>\u9032\u884c\u6027\u306e\u795e\u7d4c\u969c\u5bb3\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u904b\u52d5\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044<\/strong>\u305f\u3081\u3001<strong>\u751f\u6daf\u306b\u308f\u305f\u308b\u7ba1\u7406\u304c\u5fc5\u8981<\/strong>\u3067\u3059\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:\/\/www.europeanreview.org\/wp\/wp-content\/uploads\/1873-1880.pdf\">Bilgin, H., Bilge, S., Binici, M., &amp; Tekes, S. (2024). Clinical, biochemical, and genotypical characteristics in urea cycle mitochondrial transporter disorders. <em>European Review for Medical &amp; Pharmacological Sciences<\/em>, <em>28<\/em>(5).<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.2169\/internalmedicine.7843-21\">Hoshino, Y., Kodaira, M., Matsuno, A., Kaneko, T., Fukuyama, T., Takano, K., Yazaki, M., &amp; Sekijima, Y. (2022). Reversible leukoencephalopathy in a man with childhood-onset hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. <em>Internal Medicine<\/em>, <em>61<\/em>(4), 553\u2013557. https:\/\/doi.org\/10.2169\/internalmedicine.7843-21<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/bab.2230\">Balaji, S. (2022). The transferred translocases: An old wine in a new bottle. <em>Biotechnology and Applied Biochemistry<\/em>, <em>69<\/em>(4), 1587\u20131610. https:\/\/doi.org\/10.1002\/bab.2230<\/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>HHH\u75c7\u5019\u7fa4, \u30cf\u30a4\u30d1\u30fc\u30aa\u30eb\u30cb\u30c1\u30f3\u8840\u75c7, \u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7, \u30db\u30e2\u30b7\u30c8\u30eb\u30ea\u30f3\u5c3f\u75c7, SLC25A15, \u30aa\u30eb\u30cb\u30c1\u30f3\u30c8\u30e9\u30f3\u30b9\u30ed\u30ab\u30fc\u30bc, \u4ee3\u8b1d\u75be\u60a3, \u5c3f\u7d20\u56de\u8def\u7570\u5e38\u75c7, \u9ad8\u30aa\u30eb\u30cb\u30c1\u30f3\u8840\u75c7, \u30b7\u30c8\u30eb\u30ea\u30f3\u88dc\u5145\u7642\u6cd5, \u4f4e\u30bf\u30f3\u30d1\u30af\u98df, \u30a2\u30f3\u30e2\u30cb\u30a2\u9664\u53bb\u85ac<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":25,"template":"page_gd.php","class_list":["post-33712","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\/33712","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":9,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33712\/revisions"}],"predecessor-version":[{"id":127663,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33712\/revisions\/127663"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33712"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}