{"id":60100,"date":"2023-08-24T09:59:13","date_gmt":"2023-08-24T00:59:13","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=60100"},"modified":"2026-05-07T09:59:04","modified_gmt":"2026-05-07T00:59:04","slug":"methylglutaconuria","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/methylglutaconuria\/","title":{"rendered":"\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30b3\u30f3\u9178\u5c3f\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>Costeff\u75c7\u5019\u7fa4\uff083-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30b3\u30f3\u9178\u5c3f\u75c7\u30bf\u30a4\u30d73\uff09\u306f\u3001OPA3\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u767a\u75c7\u3059\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3001\u5e7c\u5c11\u671f\u306e\u4e21\u5074\u6027\u8996\u795e\u7d4c\u840e\u7e2e\u3068\u9032\u884c\u6027\u306e\u904b\u52d5\u969c\u5bb3\u3092\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u75be\u60a3\u306e\u6982\u8981\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u30a2\u30d7\u30ed\u30fc\u30c1\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u3001\u65e9\u671f\u767a\u898b\u3068\u9069\u5207\u306a\u7ba1\u7406\u306e\u91cd\u8981\u6027\u3092\u63a2\u308a\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>OPA3\uff5c3-Methylglutaconic Aciduria, Type 3<\/p>\n\n\n\n<p><sup>Costeff Syndrome<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>3-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30b3\u30f3\u9178\u5c3f\u75c7\uff083-Methylglutaconic Aciduria, 3-MGA\uff09\u306f\u3001\u4ee3\u8b1d\u7570\u5e38\u3092\u4f34\u3046\u5e0c\u5c11\u75be\u60a3\u7fa4\u3067\u3042\u308a\u3001\u305d\u306e\u4e2d\u3067\u3082<strong>\u30bf\u30a4\u30d73\uff08Costeff\u75c7\u5019\u7fa4\uff09\u306f\u3001OPA3\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u75be\u60a3\u3067\u3042\u308b\u3002\u672c\u75be\u60a3\u306f\u3001\u5e7c\u5c11\u671f\u306b\u767a\u75c7\u3059\u308b\u4e21\u5074\u6027\u8996\u795e\u7d4c\u840e\u7e2e<\/strong>\u3092\u4e3b\u5fb4\u3068\u3057\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u904b\u52d5\u6a5f\u80fd\u306e\u969c\u5bb3\uff08\u75d9\u7e2e\u6027\u5bfe\u9ebb\u75fa\u3001\u904b\u52d5\u5931\u8abf\u3001\u821e\u8e0f\u75c5\u30a2\u30c6\u30c8\u30fc\u30bc\u306a\u3069\uff09\u3092\u4f34\u3046\u306e\u304c\u7279\u5fb4\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306f\u30011989\u5e74\u306bCosteff\u3089\u306b\u3088\u3063\u3066\u6700\u521d\u306b\u5831\u544a\u3055\u308c\u3001\u4e3b\u306b<strong>\u30a4\u30e9\u30af\u7cfb\u30e6\u30c0\u30e4\u4eba<\/strong>\u306e\u96c6\u56e3\u3067\u767a\u75c7\u7387\u304c\u9ad8\u3044\u3053\u3068\u304c\u6307\u6458\u3055\u308c\u3066\u3044\u308b\u3002\u5c3f\u4e2d\u306b\u306f3-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30b3\u30f3\u9178\uff083-MGA\uff09\u306e\u7570\u5e38\u6392\u6cc4\u304c\u8a8d\u3081\u3089\u308c\u3001<strong>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6a5f\u80fd\u7570\u5e38<\/strong>\u304c\u95a2\u4e0e\u3059\u308b\u75be\u60a3\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002\u672c\u7a3f\u3067\u306f\u3001Costeff\u75c7\u5019\u7fa4\u306e\u75ab\u5b66\u3001\u75c5\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u30fb\u7ba1\u7406\u3001\u4e88\u5f8c\u306b\u3064\u3044\u3066\u8a73\u8ff0\u3059\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>Costeff\u75c7\u5019\u7fa4\u306f<strong>\u6975\u3081\u3066\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3<\/strong>\u3067\u3042\u308a\u30011989\u5e74\u306e\u521d\u5831\u544a\u4ee5\u964d\u3001\u3053\u308c\u307e\u3067\u306b<strong>\u7d0450\u4f8b<\/strong>\u306e\u60a3\u8005\u304c\u6587\u732e\u4e0a\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002\u7279\u306b\u30a4\u30e9\u30af\u7cfb\u30e6\u30c0\u30e4\u4eba\u306e\u96c6\u56e3\u306b\u304a\u3044\u3066\u983b\u5ea6\u304c\u9ad8\u304f\u3001\u8fd1\u89aa\u5a5a\u304c\u767a\u75c7\u30ea\u30b9\u30af\u3092\u9ad8\u3081\u308b\u8981\u56e0\u306e\u4e00\u3064\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u30022014\u5e74\u306eYahalom\u3089\u306e\u5831\u544a\u3067\u306f\u3001<strong>28\u540d\u306e\u60a3\u8005\uff0821\u5bb6\u7cfb\uff09<\/strong><strong>\u304c\u8abf\u67fb\u3055\u308c\u3001\u305d\u306e\u3046\u3061<\/strong><strong>9\u5bb6\u7cfb<\/strong>\u3067\u306f\u4e21\u89aa\u304c\u8fd1\u89aa\u5a5a\u3067\u3042\u3063\u305f\u3002<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u4e73\u5e7c\u5150\u671f\u306b\u8996\u795e\u7d4c\u840e\u7e2e\u3068\u3057\u3066\u767a\u75c7\u3057\u3001<strong>\u9752\u5e74\u671f\u307e\u3067\u306b\u9032\u884c\u6027\u306e\u904b\u52d5\u969c\u5bb3\u3092\u5448\u3059\u308b<\/strong>\u304c\u3001\u9032\u884c\u901f\u5ea6\u306f\u9045\u304f\u300150\u6b73\u4ee3\u3067\u3082\u6b69\u884c\u53ef\u80fd\u306a\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002\u307e\u305f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u7a0b\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u8efd\u5ea6\u306e\u8a8d\u77e5\u6a5f\u80fd\u4f4e\u4e0b\u304c\u307f\u3089\u308c\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>Costeff\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3042\u308b<strong>OPA3<\/strong>\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u819c\u306b\u5c40\u5728\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u305d\u306e\u6b63\u78ba\u306a\u6a5f\u80fd\u306f\u672a\u3060\u5b8c\u5168\u306b\u306f\u89e3\u660e\u3055\u308c\u3066\u3044\u306a\u3044\u3002\u3057\u304b\u3057\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u30a8\u30cd\u30eb\u30ae\u30fc\u4ee3\u8b1d\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>1997\u5e74\u3001Nystuen\u3089\u304c\u672c\u75be\u60a3\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3092<strong>19q13.2-q13.3<\/strong>\u306b\u540c\u5b9a\u3057\u30012001\u5e74\u306b\u306fAnikster\u3089\u304cOPA3\u907a\u4f1d\u5b50\u306e<strong>c.143-1G&gt;C\u30b9\u30d7\u30e9\u30a4\u30b9\u90e8\u4f4d\u5909\u7570<\/strong>\u3092\u5831\u544a\u3057\u305f\u3002\u3053\u306e\u5909\u7570\u306fOPA3\u306emRNA\u767a\u73fe\u3092\u963b\u5bb3\u3057\u3001\u6a5f\u80fd\u7684OPA3\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u7523\u751f\u3092\u59a8\u3052\u308b\u3068\u8003\u3048\u3089\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6a5f\u80fd\u7570\u5e38\u306b\u3088\u308a\u3001<strong>3-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30b3\u30f3\u9178\u306e\u7570\u5e38\u6392\u6cc4<\/strong>\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u672c\u75be\u60a3\u306e\u4ee3\u8b1d\u7684\u7279\u5fb4\u3067\u3042\u308b\u3002\u3053\u306e\u4ee3\u8b1d\u7570\u5e38\u306f\u3001\u8996\u795e\u7d4c\u840e\u7e2e\u3084\u904b\u52d5\u6a5f\u80fd\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3059\u795e\u7d4c\u5909\u6027\u30d7\u30ed\u30bb\u30b9\u306b\u95a2\u4e0e\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\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>Costeff\u75c7\u5019\u7fa4\u306e\u4e3b\u8981\u75c7\u72b6\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<ol start=\"1\" class=\"wp-block-list\">\n<li><strong>\u4e21\u5074\u6027\u8996\u795e\u7d4c\u840e\u7e2e<\/strong>\uff08\u5c0f\u5150\u671f\u767a\u75c7\uff09\n<ul class=\"wp-block-list\">\n<li>\u9032\u884c\u6027\u306e\u8996\u529b\u4f4e\u4e0b<\/li>\n\n\n\n<li>\u6c34\u5e73\u773c\u632f\u3084\u8996\u91ce\u6b20\u640d<\/li>\n\n\n\n<li>\u8996\u795e\u7d4c\u4e73\u982d\u84bc\u767d\uff08OCT\u306b\u3066\u7db2\u819c\u795e\u7d4c\u7dda\u7dad\u5c64\u306e\u83f2\u8584\u5316\u304c\u78ba\u8a8d\u3055\u308c\u308b\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u6a5f\u80fd\u969c\u5bb3<\/strong>\uff08\u9752\u5e74\u671f\u4ee5\u964d\u306b\u9032\u884c\uff09\n<ul class=\"wp-block-list\">\n<li>\u75d9\u7e2e\u6027\u5bfe\u9ebb\u75fa<\/li>\n\n\n\n<li>\u904b\u52d5\u5931\u8abf\uff08\u5931\u8abf\u6027\u6b69\u884c\uff09<\/li>\n\n\n\n<li>\u821e\u8e0f\u75c5\u30a2\u30c6\u30c8\u30fc\u30bc\uff08\u4e0d\u968f\u610f\u904b\u52d5\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u795e\u7d4c\u75c7\u72b6<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a8d\u77e5\u6a5f\u80fd\u4f4e\u4e0b\uff08\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\uff09<\/li>\n\n\n\n<li>\u5c0f\u8133\u840e\u7e2e\u306b\u4f34\u3046\u69cb\u97f3\u969c\u5bb3<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<p>\u75c7\u72b6\u306e\u9032\u884c\u306f<strong>\u7de9\u5f90<\/strong>\u3067\u3042\u308a\u3001\u591a\u304f\u306e\u60a3\u8005\u306f\u9ad8\u9f62\u306b\u306a\u3063\u3066\u3082\u81ea\u529b\u6b69\u884c\u304c\u53ef\u80fd\u3067\u3042\u308b\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>Costeff\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306b\u306f\u3001\u4ee5\u4e0b\u306e\u691c\u67fb\u304c\u6709\u7528\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<ol start=\"1\" class=\"wp-block-list\">\n<li><strong>\u5c3f\u4e2d\u6709\u6a5f\u9178\u5206\u6790<\/strong>\uff1a\n<ul class=\"wp-block-list\">\n<li>3-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30b3\u30f3\u9178\uff083-MGA\uff09\u306e\u7570\u5e38\u6392\u6cc4\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb<\/strong>\uff1a\n<ul class=\"wp-block-list\">\n<li>OPA3\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u691c\u51fa\uff08\u4ee3\u8868\u7684\u306a\u5909\u7570\uff1ac.143-1G&gt;C\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u773c\u79d1\u691c\u67fb<\/strong>\uff1a\n<ul class=\"wp-block-list\">\n<li>\u8996\u795e\u7d4c\u840e\u7e2e\u306e\u78ba\u8a8d\uff08OCT\u3001\u8996\u91ce\u691c\u67fb\u3001\u8996\u899a\u8a98\u767a\u96fb\u4f4d\u306a\u3069\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>MRI<\/strong>\uff1a\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u8133\u840e\u7e2e\u3084\u8996\u4ea4\u53c9\u306e\u840e\u7e2e\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308b\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>\u73fe\u5728\u3001Costeff\u75c7\u5019\u7fa4\u306b\u5bfe\u3059\u308b<strong>\u6839\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u3057\u306a\u3044<\/strong>\u3002\u305d\u306e\u305f\u3081\u3001\u75c7\u72b6\u306b\u5fdc\u3058\u305f<strong>\u5bfe\u75c7\u7642\u6cd5<\/strong>\u304c\u4e2d\u5fc3\u3068\u306a\u308b\u3002<\/p>\n\n\n\n<ol start=\"1\" class=\"wp-block-list\">\n<li><strong>\u8996\u899a\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong>\uff1a\n<ul class=\"wp-block-list\">\n<li>\u8996\u899a\u88dc\u52a9\u5177\u306e\u5229\u7528<\/li>\n\n\n\n<li>\u8996\u529b\u4f4e\u4e0b\u3078\u306e\u9069\u5fdc\u8a13\u7df4<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u6a5f\u80fd\u6539\u5584\u306e\u305f\u3081\u306e\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong>\uff1a\n<ul class=\"wp-block-list\">\n<li>\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5<\/li>\n\n\n\n<li>\u75d9\u7e2e\u306b\u5bfe\u3059\u308b\u30dc\u30c4\u30ea\u30cc\u30b9\u6bd2\u7d20\u6ce8\u5c04<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6804\u990a\u30fb\u4ee3\u8b1d\u7ba1\u7406<\/strong>\uff1a\n<ul class=\"wp-block-list\">\n<li>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6a5f\u80fd\u3092\u640d\u306a\u3046\u85ac\u5264\u3084\u30a2\u30eb\u30b3\u30fc\u30eb\u3092\u907f\u3051\u308b\u3002<\/li>\n\n\n\n<li>L-\u30ab\u30eb\u30cb\u30c1\u30f3\u88dc\u5145\u7642\u6cd5\u306e\u6709\u52b9\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u308b\u304c\u3001\u78ba\u7acb\u3055\u308c\u305f\u6cbb\u7642\u6cd5\u3067\u306f\u306a\u3044\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong>\uff1a\n<ul class=\"wp-block-list\">\n<li>\u767a\u75c7\u30ea\u30b9\u30af\u306e\u8a55\u4fa1\u3068\u5bb6\u65cf\u8a08\u753b\u3078\u306e\u52a9\u8a00\u3002<\/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>Costeff\u75c7\u5019\u7fa4\u306e\u9032\u884c\u306f<strong>\u7de9\u5f90<\/strong>\u3067\u3042\u308a\u3001\u60a3\u8005\u306e\u5bff\u547d\u306b\u5927\u304d\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3053\u3068\u306f\u5c11\u306a\u3044\u3002\u3057\u304b\u3057\u3001<strong>\u8996\u899a\u969c\u5bb3\u3068\u904b\u52d5\u6a5f\u80fd\u969c\u5bb3\u306f\u9032\u884c\u6027<\/strong>\u3067\u3042\u308a\u3001\u65e5\u5e38\u751f\u6d3b\u306b\u652f\u969c\u3092\u304d\u305f\u3059\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u3001<strong>OCT\u3084MRI\u3092\u7528\u3044\u305f\u8a73\u7d30\u306a\u795e\u7d4c\u773c\u79d1\u7684\u8a55\u4fa1<\/strong>\u304c\u9032\u307f\u3001\u75c5\u614b\u306e\u7406\u89e3\u304c\u6df1\u307e\u3063\u3066\u3044\u308b\u3002\u4eca\u5f8c\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6a5f\u80fd\u3092\u6a19\u7684\u3068\u3057\u305f\u65b0\u305f\u306a\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u304c\u671f\u5f85\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u7a00\u3067\u3042\u308b\u305f\u3081\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u7ba1\u7406\u304c\u91cd\u8981\u3067\u3042\u308a\u3001\u7279\u306b<strong>\u8996\u529b\u4f4e\u4e0b\u3092\u521d\u767a\u75c7\u72b6\u3068\u3059\u308b\u795e\u7d4c\u5909\u6027\u75be\u60a3\u3068\u306e\u9451\u5225<\/strong>\u304c\u6c42\u3081\u3089\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\/ijms23084422\">Nardecchia, F., Caciotti, A., Giovanniello, T., De Leo, S., Ferri, L., Galosi, S., Santagata, S., Torres, B., Bernardini, L., Carducci, C., Morrone, A., &amp; Leuzzi, V. (2022). 3-methylglutaconic aciduria type i due to auh defect: The case report of a diagnostic odyssey and a review of the literature. <em>International Journal of Molecular Sciences<\/em>, <em>23<\/em>(8), 4422. https:\/\/doi.org\/10.3390\/ijms23084422<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.4274\/tnd.2022.04641\">Temizy\u00fcrek, \u00d6., \u00dcnl\u00fc, M., \u015eener, H., &amp; G\u00fcltekin, M. (2023). Ophthalmic features of a rare case of costeff syndrome. <em>Turkish Journal Of Neurology<\/em>, <em>29<\/em>(1), 74\u201376. https:\/\/doi.org\/10.4274\/tnd.2022.04641<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.47485\/2693-2490.1090\">Gadoth, N. (2024). From Behr Syndrome to 3-Methyl-Glutacoinc Aciduria Type 3. An \u201cAccidental\u201d Diagnosis of a Case and a Mini-Review, . J Psychol Neurosci; 6(3):1-3. DOI : https:\/\/doi.org\/10.47485\/2693-2490.1090<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/journals.lww.com\/jneuro-ophthalmology\/fulltext\/2022\/03000\/neuro_ophthalmic_phenotype_of_opa3.43.aspx\">Huna-Baron, Ruth MD; Yahalom, Gilad MD; Anikster, Yair MD, PhD; Ben Zeev, Bruria MD; Hoffmann, Chen MD; Hassin-Baer, Sharon MD. Neuro-Ophthalmic Phenotype of OPA3. Journal of Neuro-Ophthalmology 42(1):p e147-e152, March 2022. | DOI: 10.1097\/WNO.0000000000001249<\/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>Costeff\u75c7\u5019\u7fa4, 3-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30b3\u30f3\u9178\u5c3f\u75c7, 3-MGA, OPA3, \u8996\u795e\u7d4c\u840e\u7e2e, \u75d9\u7e2e\u6027\u5bfe\u9ebb\u75fa, \u907a\u4f1d\u6027\u75be\u60a3, \u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u7570\u5e38, \u795e\u7d4c\u5909\u6027\u75be\u60a3, \u773c\u79d1\u75be\u60a3, \u907a\u4f1d\u5b50\u691c\u67fb, \u5e0c\u5c11\u75be\u60a3<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-60100","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\/60100","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":8,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60100\/revisions"}],"predecessor-version":[{"id":128010,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60100\/revisions\/128010"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=60100"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}