{"id":33714,"date":"2022-07-12T10:01:35","date_gmt":"2022-07-12T01:01:35","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33714"},"modified":"2026-04-28T11:54:05","modified_gmt":"2026-04-28T02:54:05","slug":"ornithine-aminotransferase-deficiency","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ornithine-aminotransferase-deficiency\/","title":{"rendered":"\u30aa\u30eb\u30cb\u30c1\u30f3\u30a2\u30df\u30ce\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\u6b20\u640d\u75c7"},"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>\u8108\u7d61\u7db2\u819c\u8f2a\u72b6\u840e\u7e2e\uff08GACR\uff09\u306f\u3001\u30aa\u30eb\u30cb\u30c1\u30f3\u30a2\u30df\u30ce\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\uff08OAT\uff09\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u767a\u75c7\u3059\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3001\u9032\u884c\u6027\u306e\u7db2\u819c\u5909\u6027\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001GACR\u306e\u539f\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u306e\u53ef\u80fd\u6027\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u3001\u6700\u65b0\u306e\u7814\u7a76\u60c5\u5831\u3092\u63d0\u4f9b\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>OAT\uff5cOrnithine Aminotransferase Deficiency<\/p>\n\n\n\n<p><sup>GACR; <\/sup><sup>Gyrate Atrophy of Choroid and Retina; Gyrate Atrophy; Hyperornithinemia;  <\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u8108\u7d61\u7db2\u819c\u8f2a\u72b6\u840e\u7e2e\uff08Gyrate Atrophy of the Choroid and Retina, GACR\uff09\u306f\u3001<strong>\u30aa\u30eb\u30cb\u30c1\u30f3\u30a2\u30df\u30ce\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\uff08OAT\uff09\u3068\u3044\u3046\u9175\u7d20\u306e\u6b20\u640d\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u75be\u60a3<\/strong>\u3067\u3059\u3002OAT\u306f<strong>\u30d4\u30ea\u30c9\u30ad\u30b5\u30fc\u30eb\u30ea\u30f3\u9178\uff08\u30d3\u30bf\u30df\u30f3B6\u306e\u6d3b\u6027\u578b\uff09\u3092\u5fc5\u8981\u3068\u3059\u308b\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u9175\u7d20<\/strong>\u3067\u3001<strong>\u30aa\u30eb\u30cb\u30c1\u30f3\u3092\u30d4\u30ed\u30ea\u30f3-5-\u30ab\u30eb\u30dc\u30f3\u9178\uff08P5C\uff09\u3078\u5909\u63db<\/strong>\u3059\u308b\u50cd\u304d\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u306eP5C\u306f<strong>\u30d7\u30ed\u30ea\u30f3\u3084\u30b0\u30eb\u30bf\u30df\u30f3\u9178\u306e\u4ee3\u8b1d\u306b\u95a2\u4e0e\u3059\u308b\u91cd\u8981\u306a\u4e2d\u9593\u4ee3\u8b1d\u7523\u7269<\/strong>\u3067\u3059\u3002<\/p>\n\n\n\n<p>OAT\u304c\u6b20\u640d\u3059\u308b\u3068\u3001\u8840\u4e2d\u306e\u30aa\u30eb\u30cb\u30c1\u30f3\u6fc3\u5ea6\u304c\u7570\u5e38\u306b\u9ad8\u304f\u306a\u308b\uff08<strong>\u9ad8\u30aa\u30eb\u30cb\u30c1\u30f3\u8840\u75c7<\/strong>\uff09\u3053\u3068\u3067\u3001\u8996\u7d30\u80de\u3084\u7db2\u819c\u306e\u7d44\u7e54\u304c\u5f90\u3005\u306b\u969c\u5bb3\u3092\u53d7\u3051\u3001<strong>\u9032\u884c\u6027\u306e\u7db2\u819c\u5909\u6027<\/strong>\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u3092\u6301\u3064\u60a3\u8005\u306f<strong>\u9752\u5e74\u671f\u307e\u3067\u306b\u8996\u91ce\u304c\u72ed\u304f\u306a\u308a<\/strong>\u3001<strong>\u4e2d\u5e74\u671f\u306b\u306f\u5931\u660e\u306b\u81f3\u308b<\/strong>\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u307e\u305f\u3001<strong>\u767d\u5185\u969c\u306e\u65e9\u671f\u767a\u75c7<\/strong>\u3084II\u578b\u7b4b\u7dda\u7dad\u306e\u840e\u7e2e\uff08\u7b4b\u529b\u4f4e\u4e0b\uff09\u306a\u3069\u306e\u5168\u8eab\u75c7\u72b6\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307b\u3068\u3093\u3069\u306e\u60a3\u8005\u306f<strong>\u77e5\u7684\u767a\u9054\u306b\u554f\u984c\u306f\u306a\u3044<\/strong>\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u4e00\u90e8\u3067\u306f<strong>\u8133\u306e\u767d\u8cea\u7570\u5e38\u3084\u30af\u30ec\u30a2\u30c1\u30f3\u4e0d\u8db3<\/strong>\u306a\u3069\u306e<strong>\u795e\u7d4c\u5b66\u7684\u7570\u5e38<\/strong>\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>GACR\u306f<strong>\u975e\u5e38\u306b\u307e\u308c\u306a\u75be\u60a3<\/strong>\u3067\u3042\u308a\u3001\u7279\u306b\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\u3067\u306e\u7814\u7a76\u304c\u9032\u3093\u3067\u3044\u307e\u3059\u3002\u3053\u306e\u56fd\u3067\u306f\u3001GACR\u306e\u767a\u75c7\u983b\u5ea6\u304c<strong>\u7d045\u4e07\u4eba\u306b1\u4eba<\/strong>\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\u4ee5\u5916\u3067\u3082<strong>\u30ab\u30ca\u30c0\u3001\u30c9\u30a4\u30c4\u3001\u30a4\u30bf\u30ea\u30a2\u3001\u30a4\u30b9\u30e9\u30a8\u30eb\u3001\u65e5\u672c\u3001\u30aa\u30e9\u30f3\u30c0\u3001\u30a2\u30e1\u30ea\u30ab<\/strong>\u306a\u3069\u3001\u4e16\u754c\u5404\u56fd\u3067\u75c7\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u307e\u3067\u306b<strong>200\u4eba\u4ee5\u4e0a\u306e\u60a3\u8005\u304c\u751f\u5316\u5b66\u7684\u691c\u67fb\u306b\u3088\u3063\u3066\u8a3a\u65ad\u3055\u308c\u305f<\/strong>\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f<strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/strong>\u306b\u3088\u3063\u3066\u53d7\u3051\u7d99\u304c\u308c\u308b\u305f\u3081\u3001<strong>\u4e21\u89aa\u304c\u3068\u3082\u306bOAT\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u6301\u3064\u5834\u5408\u306b\u306e\u307f\u767a\u75c7<\/strong>\u3057\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u60a3\u8005\u306e\u5bb6\u65cf\u306b\u306f<strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong>\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>GACR\u306f<strong>OAT\u907a\u4f1d\u5b50\uff0810\u756a\u67d3\u8272\u4f53\u306e10q26\u9818\u57df\u306b\u4f4d\u7f6e\uff09\u306b\u751f\u3058\u305f\u75c5\u7684\u306a\u5909\u7570\uff08\u30d0\u30ea\u30a2\u30f3\u30c8\uff09\u304c\u539f\u56e0\u3067\u767a\u75c7\u3057\u307e\u3059\u3002OAT\u306f\u30aa\u30eb\u30cb\u30c1\u30f3\u3001\u30a2\u30eb\u30ae\u30cb\u30f3\u3001\u30d7\u30ed\u30ea\u30f3\u306e\u4ee3\u8b1d\u3092\u8abf\u7bc0\u3059\u308b\u91cd\u8981\u306a\u9175\u7d20<\/strong>\u3067\u3042\u308a\u3001\u7279\u306b\u5c3f\u7d20\u56de\u8def\uff08\u4f53\u5185\u306e\u30a2\u30f3\u30e2\u30cb\u30a2\u3092\u7121\u5bb3\u5316\u3059\u308b\u4ed5\u7d44\u307f\uff09\u306b\u3082\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>OAT\u306e\u50cd\u304d\u306f<strong>\u65b0\u751f\u5150\u671f\u3068\u6210\u4eba\u671f\u3067\u7570\u306a\u308a\u307e\u3059<\/strong>\u3002\u65b0\u751f\u5150\u3084\u4e73\u5150\u3067\u306f<strong>\u30aa\u30eb\u30cb\u30c1\u30f3\u306e\u5408\u6210\u304c\u91cd\u8981<\/strong>\u3067\u3059\u304c\u3001\u6210\u9577\u3068\u3068\u3082\u306b<strong>\u4f59\u5206\u306a\u30aa\u30eb\u30cb\u30c1\u30f3\u3092\u5206\u89e3\u3059\u308b\u5f79\u5272<\/strong>\u3078\u3068\u30b7\u30d5\u30c8\u3057\u307e\u3059\u3002OAT\u304c\u6b20\u640d\u3059\u308b\u3068\u3001<strong>\u8840\u6db2\u4e2d\u306e\u30aa\u30eb\u30cb\u30c1\u30f3\u6fc3\u5ea6\u304c10\u301c20\u500d\u306b\u4e0a\u6607<\/strong>\u3057\u3001\u3053\u306e\u7570\u5e38\u304c<strong>\u7db2\u819c\u306e\u7d30\u80de\u306b\u60aa\u5f71\u97ff\u3092\u53ca\u307c\u3059<\/strong>\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001<strong>\u3054\u304f\u307e\u308c\u306b<\/strong>OAT\u6b20\u640d\u306b\u3088\u3063\u3066<strong>\u65b0\u751f\u5150\u671f\u306b\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\uff08\u8840\u4e2d\u306e\u30a2\u30f3\u30e2\u30cb\u30a2\u6fc3\u5ea6\u306e\u4e0a\u6607\uff09\u304c\u767a\u751f<\/strong>\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u3053\u308c\u306f<strong>\u5c3f\u7d20\u56de\u8def\u306b\u5fc5\u8981\u306a\u30aa\u30eb\u30cb\u30c1\u30f3\u306e\u4f9b\u7d66\u304c\u4e0d\u8db3\u3059\u308b\u305f\u3081<\/strong>\u3068\u8003\u3048\u3089\u308c\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<h3 class=\"wp-block-heading\">\u76ee\u306e\u75c7\u72b6\uff08\u773c\u79d1\u7684\u306a\u7279\u5fb4\uff09<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8fd1\u8996\uff08\u8fd1\u304f\u306f\u898b\u3048\u308b\u304c\u9060\u304f\u304c\u307c\u3084\u3051\u308b\uff09\u304c\u5e7c\u5c11\u671f\u304b\u3089\u73fe\u308c\u308b<\/li>\n\n\n\n<li>\u591c\u76f2\u75c7\uff08\u6697\u3044\u5834\u6240\u3067\u898b\u3048\u306b\u304f\u304f\u306a\u308b\uff09\u304c\u521d\u671f\u75c7\u72b6\u3068\u3057\u3066\u767a\u75c7<\/li>\n\n\n\n<li>\u8996\u91ce\u306e\u72ed\u7a84\uff08\u30c8\u30f3\u30cd\u30eb\u8996\u91ce\uff09\u304c\u9032\u884c\u3057\u3001\u5468\u8fba\u8996\u91ce\u304c\u5f90\u3005\u306b\u5931\u308f\u308c\u308b<\/li>\n\n\n\n<li><strong>\u7db2\u819c\u306e\u840e\u7e2e\uff08\u7db2\u8108\u7d61\u819c\u840e\u7e2e\uff09\u304c\u8996\u91ce\u306e\u5916\u5074\u304b\u3089\u4e2d\u592e\u3078<\/strong>\u9032\u884c<\/li>\n\n\n\n<li><strong>\u5f8c\u56a2\u4e0b\u767d\u5185\u969c\uff08\u30ec\u30f3\u30ba\u306e\u5f8c\u308d\u5074\u304c\u6fc1\u308b\u30bf\u30a4\u30d7\u306e\u767d\u5185\u969c\uff09\u304c10\u4ee3\u5f8c\u534a\u304b\u3089\u767a\u75c7<\/strong><\/li>\n\n\n\n<li><strong>40\u301c60\u6b73\u3054\u308d\u306b\u5931\u660e<\/strong><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u795e\u7d4c\u304a\u3088\u3073\u5168\u8eab\u306e\u75c7\u72b6<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a><\/strong>\uff08\u307e\u308c\uff09<\/li>\n\n\n\n<li><strong>\u672b\u68a2\u795e\u7d4c\u969c\u5bb3<\/strong>\uff08\u624b\u8db3\u306e\u3057\u3073\u308c\u3084\u75db\u307f\uff09<\/li>\n\n\n\n<li><strong>\u767d\u8cea\u7570\u5e38<\/strong>\uff08\u8133\u306eMRI\u691c\u67fb\u3067\u898b\u3089\u308c\u308b\u5909\u5316\uff09<\/li>\n\n\n\n<li><strong>\u30af\u30ec\u30a2\u30c1\u30f3\u4e0d\u8db3<\/strong>\uff08\u8133\u3068\u7b4b\u8089\u306b\u304a\u3051\u308b\u30a8\u30cd\u30eb\u30ae\u30fc\u4ee3\u8b1d\u306e\u7570\u5e38\uff09<\/li>\n\n\n\n<li><strong>II\u578b\u7b4b\u7dda\u7dad\u306e\u840e\u7e2e<\/strong>\uff08\u8efd\u5ea6\u306e\u7b4b\u529b\u4f4e\u4e0b\uff09<\/li>\n\n\n\n<li><strong>\u65b0\u751f\u5150\u671f\u306e\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7<\/strong>\uff08\u307e\u308c\u306b\u898b\u3089\u308c\u3001\u5614\u5410\u30fb\u660f\u7761\u30fb\u3051\u3044\u308c\u3093\u3092\u5f15\u304d\u8d77\u3053\u3059\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<h3 class=\"wp-block-heading\">\u751f\u5316\u5b66\u7684\u691c\u67fb<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9ad8\u30aa\u30eb\u30cb\u30c1\u30f3\u8840\u75c7<\/strong>\uff1a\u8840\u4e2d\u306e\u30aa\u30eb\u30cb\u30c1\u30f3\u6fc3\u5ea6\u304c\u901a\u5e38\u306e<strong>10\u301c20\u500d<\/strong>\u306b\u4e0a\u6607<\/li>\n\n\n\n<li>\u65b0\u751f\u5150\u671f\u306e\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\u304c\u3042\u308b\u5834\u5408\u3001<strong>\u30a2\u30eb\u30ae\u30cb\u30f3\u3084\u30b7\u30c8\u30eb\u30ea\u30f3\u306e\u4f4e\u4e0b<\/strong>\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308b<\/li>\n\n\n\n<li><strong>\u5c3f\u4e2d\u306e\u30db\u30e2\u30b7\u30c8\u30eb\u30ea\u30f3\u3084\u30aa\u30ed\u30c1\u30f3\u9178<\/strong>\u306e\u5897\u52a0\uff08\u30a2\u30f3\u30e2\u30cb\u30a2\u4ee3\u8b1d\u7570\u5e38\u306e\u6307\u6a19\uff09<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u773c\u79d1\u691c\u67fb<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u773c\u5e95\u691c\u67fb\uff08\u7db2\u819c\u306e\u72b6\u614b\u3092\u78ba\u8a8d\uff09\u3067\u7db2\u819c\u840e\u7e2e\u3092\u78ba\u8a8d<\/li>\n\n\n\n<li>\u7db2\u819c\u96fb\u56f3\uff08ERG\uff09\u3067\u8996\u7d30\u80de\u306e\u6a5f\u80fd\u4f4e\u4e0b\u3092\u691c\u51fa<\/li>\n\n\n\n<li>\u8996\u91ce\u691c\u67fb\u3067\u8996\u91ce\u306e\u72ed\u7a84\u3092\u78ba\u8a8d<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u691c\u67fb<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>OAT\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u3092\u7279\u5b9a<\/li>\n\n\n\n<li>\u5bb6\u65cf\u306e\u4fdd\u56e0\u8005\u691c\u67fb\u3082\u63a8\u5968<\/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<h3 class=\"wp-block-heading\">\u98df\u4e8b\u7642\u6cd5<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30a2\u30eb\u30ae\u30cb\u30f3\u5236\u9650\u98df<\/strong>\uff1a\u30a2\u30eb\u30ae\u30cb\u30f3\u3092\u6e1b\u3089\u3059\u3053\u3068\u3067\u30aa\u30eb\u30cb\u30c1\u30f3\u306e\u7523\u751f\u3092\u6291\u3048\u3001<strong>\u7db2\u819c\u5909\u6027\u306e\u9032\u884c\u3092\u9045\u3089\u305b\u308b\u53ef\u80fd\u6027<\/strong>\u304c\u3042\u308b<\/li>\n\n\n\n<li><strong>\u4f4e\u305f\u3093\u3071\u304f\u98df<\/strong>\uff08\u4e00\u822c\u7684\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u5236\u9650\u304c\u63a8\u5968\u3055\u308c\u308b\u5834\u5408\u3082\u3042\u308b\uff09<\/li>\n\n\n\n<li>\u305f\u3060\u3057\u3001\u98df\u4e8b\u5236\u9650\u306f<strong>\u53b3\u683c\u306b\u7ba1\u7406\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u3001\u9577\u671f\u7684\u306a\u52b9\u679c\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308b<\/strong><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u85ac\u7269\u7642\u6cd5<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30d3\u30bf\u30df\u30f3B6\uff08\u30d4\u30ea\u30c9\u30ad\u30b7\u30f3\uff09\u88dc\u5145<\/strong>\uff1a\u4e00\u90e8\u306e\u60a3\u8005\u306fOAT\u306e\u6a5f\u80fd\u304c\u308f\u305a\u304b\u306b\u6539\u5584<\/li>\n\n\n\n<li>\u3057\u304b\u3057\u3001\u5927\u534a\u306e\u60a3\u8005\u3067\u306f<strong>\u52b9\u679c\u304c\u898b\u3089\u308c\u306a\u3044<\/strong><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u773c\u79d1\u7684\u304a\u3088\u3073\u652f\u6301\u7642\u6cd5<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767d\u5185\u969c\u624b\u8853<\/strong>\uff08\u9032\u884c\u3057\u305f\u5834\u5408\uff09<\/li>\n\n\n\n<li><strong>\u62e1\u5927\u93e1\u3084\u30ed\u30fc\u30d3\u30b8\u30e7\u30f3\u30ea\u30cf\u30d3\u30ea<\/strong>\u306e\u5229\u7528<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong>\uff08\u907a\u4f1d\u5f62\u5f0f\u3084\u5bb6\u65cf\u8a08\u753b\u306e\u76f8\u8ac7\uff09<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>GACR\u306f\u73fe\u5728<strong>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u304c\u306a\u3044<\/strong>\u305f\u3081\u3001\u8996\u529b\u306e\u4f4e\u4e0b\u306f<strong>\u4e0d\u53ef\u907f<\/strong>\u3067\u3059\u3002\u3057\u304b\u3057\u3001<strong>\u65e9\u671f\u8a3a\u65ad\u3068\u98df\u4e8b\u7642\u6cd5\u306e\u53b3\u683c\u306a\u7ba1\u7406<\/strong>\u306b\u3088\u3063\u3066\u9032\u884c\u3092\u9045\u3089\u305b\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u5c06\u6765\u7684\u306b\u306f<strong>\u907a\u4f1d\u5b50\u6cbb\u7642\u3084\u65b0\u3057\u3044\u85ac\u7269\u7642\u6cd5\u306e\u7814\u7a76<\/strong>\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\/10.15252\/emmm.202217033\">Boffa, I., Polishchuk, E., De Stefano, L., Dell\u2019Aquila, F., Nusco, E., Marrocco, E., Audano, M., Pedretti, S., Caterino, M., Bellezza, I., Ruoppolo, M., Mitro, N., Cellini, B., Auricchio, A., &amp; Brunetti\u2010Pierri, N. (2023). Liver\u2010directed gene therapy for ornithine aminotransferase deficiency. <em>EMBO Molecular Medicine<\/em>, <em>15<\/em>(4), e17033. https:\/\/doi.org\/10.15252\/emmm.202217033<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/978-3-662-63123-2_21\">Baumgartner, M.R., Valle, D., Dionisi-Vici, C. (2022). Disorders of Ornithine and Proline Metabolism. In: Saudubray, JM., Baumgartner, M.R., Garc\u00eda-Cazorla, \u00c1., Walter, J. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https:\/\/doi.org\/10.1007\/978-3-662-63123-2_21<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ymgmr.2022.100857\">Kaczmarczyk, A., Baker, M., Diddle, J., Yuzyuk, T., Valle, D., &amp; Lindstrom, K. (2022). A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophy. <em>Molecular Genetics and Metabolism Reports<\/em>, <em>31<\/em>, 100857. https:\/\/doi.org\/10.1016\/j.ymgmr.2022.100857<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":24,"template":"page_gd.php","class_list":["post-33714","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\/33714","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":6,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33714\/revisions"}],"predecessor-version":[{"id":127661,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33714\/revisions\/127661"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33714"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}