{"id":60306,"date":"2023-08-25T10:24:25","date_gmt":"2023-08-25T01:24:25","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=60306"},"modified":"2026-05-08T13:28:38","modified_gmt":"2026-05-08T04:28:38","slug":"ptps","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ptps\/","title":{"rendered":"PTPS\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>6-\u30d4\u30eb\u30dc\u30a4\u30eb\u30c6\u30c8\u30e9\u30d2\u30c9\u30ed\u30d7\u30c6\u30ea\u30f3\u5408\u6210\u9175\u7d20\uff08PTPS\uff09\u6b20\u640d\u75c7\u306f\u3001\u5e0c\u5c11\u306a\u907a\u4f1d\u5b50\u75be\u60a3\u306e\u4e00\u7a2e\u3067\u3001\u8133\u5185\u3067\u91cd\u8981\u306a\u50cd\u304d\u3092\u3059\u308b\u7269\u8cea\u300cBH4\u300d\u304c\u4e0d\u8db3\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308a\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u3067\u306f\u3001\u30c9\u30fc\u30d1\u30df\u30f3\u3084\u30bb\u30ed\u30c8\u30cb\u30f3\u3068\u3044\u3063\u305f\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u304c\u5341\u5206\u306b\u4f5c\u3089\u308c\u306a\u304f\u306a\u308a\u3001\u767a\u9054\u306e\u9045\u308c\u3084\u7cbe\u795e\u75c7\u72b6\u3001\u904b\u52d5\u969c\u5bb3\u306a\u3069\u304c\u73fe\u308c\u307e\u3059\u3002\u7279\u306b\u8a3a\u65ad\u304c\u96e3\u3057\u3044\u907a\u4f1d\u5b50\u5909\u7570\u3082\u3042\u308a\u3001\u65e9\u671f\u306e\u8a3a\u65ad\u3068\u9069\u5207\u306a\u6cbb\u7642\u304c\u751f\u6d3b\u306e\u8cea\u3092\u5927\u304d\u304f\u5de6\u53f3\u3057\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u75c7\u72b6\u3084\u6cbb\u7642\u6cd5\u3001\u6700\u65b0\u306e\u7814\u7a76\u52d5\u5411\u3092\u5206\u304b\u308a\u3084\u3059\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>PTS\uff5c6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>6-\u30d4\u30eb\u30dc\u30a4\u30eb\u30c6\u30c8\u30e9\u30d2\u30c9\u30ed\u30d7\u30c6\u30ea\u30f3\u5408\u6210\u9175\u7d20\uff08PTPS\uff09\u6b20\u640d\u75c7\u306f\u3001PTS\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306b\u5909\u7570\uff08\u907a\u4f1d\u5b50\u306e\u4e00\u90e8\u304c\u6b63\u5e38\u3068\u7570\u306a\u308b\u72b6\u614b\uff09\u304c\u8d77\u3053\u308b\u3053\u3068\u3067\u767a\u75c7\u3059\u308b\u73cd\u3057\u3044\u907a\u4f1d\u75c5\u3067\u3059\u3002\u3053\u306e\u75c5\u6c17\u3067\u306f\u3001\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\uff08\u8133\u5185\u3067\u60c5\u5831\u3092\u4f1d\u3048\u308b\u7269\u8cea\uff09\u3067\u3042\u308b\u30c9\u30fc\u30d1\u30df\u30f3\u3084\u30bb\u30ed\u30c8\u30cb\u30f3\u306e\u5408\u6210\u3084\u3001\u30d5\u30a7\u30cb\u30eb\u30a2\u30e9\u30cb\u30f3\uff08\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u69cb\u6210\u3059\u308b\u30a2\u30df\u30ce\u9178\u306e\u4e00\u7a2e\uff09\u306e\u4ee3\u8b1d\u306b\u6b20\u304b\u305b\u306a\u3044\u300c\u30c6\u30c8\u30e9\u30d2\u30c9\u30ed\u30d3\u30aa\u30d7\u30c6\u30ea\u30f3\uff08BH4\uff09\u300d\u3068\u3044\u3046\u7269\u8cea\u304c\u4f53\u5185\u3067\u5341\u5206\u306b\u4f5c\u3089\u308c\u306a\u304f\u306a\u308a\u307e\u3059\u3002PTPS\u6b20\u640d\u75c7\u306fBH4\u304c\u4e0d\u8db3\u3059\u308b\u75c5\u6c17\uff08BH4\u6b20\u640d\u75c7\uff09\u306e\u4e2d\u3067\u6700\u3082\u591a\u304f\u3001\u5168\u4e16\u754c\u306eBH4\u6b20\u640d\u75c7\u60a3\u8005\u306e\u3046\u3061\u7d0454\uff5e65%\u304c\u3053\u306e\u30bf\u30a4\u30d7\u306b\u8a72\u5f53\u3057\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u306e\u60a3\u8005\u306f\u3001\u8840\u6db2\u4e2d\u306e\u30d5\u30a7\u30cb\u30eb\u30a2\u30e9\u30cb\u30f3\u6fc3\u5ea6\u304c\u9ad8\u304f\u306a\u308b\u300c\u9ad8\u30d5\u30a7\u30cb\u30eb\u30a2\u30e9\u30cb\u30f3\u8840\u75c7\u300d\u3092\u767a\u75c7\u3057\u3001\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u304c\u3046\u307e\u304f\u4f5c\u3089\u308c\u306a\u304f\u306a\u308b\u3053\u3068\u3067\u3055\u307e\u3056\u307e\u306a\u795e\u7d4c\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>PTPS\u6b20\u640d\u75c7\u306f\u4e16\u754c\u7684\u306b\u6700\u3082\u591a\u3044\u30bf\u30a4\u30d7\u306eBH4\u6b20\u640d\u75c7\u3067\u3001BH4\u6b20\u640d\u75c7\u5168\u4f53\u306e\u7d0465%\u3092\u5360\u3081\u3066\u3044\u307e\u3059\uff08BIODEFdb\u3068\u3044\u3046\u56fd\u969b\u7684\u306a\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u30012015\u5e74\u306e\u7d71\u8a08\uff09\u3002\u5730\u57df\u306b\u3088\u308b\u5dee\u3082\u5927\u304d\u304f\u3001\u7279\u306b\u53f0\u6e7e\u3067\u306f\u9ad8\u30d5\u30a7\u30cb\u30eb\u30a2\u30e9\u30cb\u30f3\u8840\u75c7\u306e\u60a3\u8005\u306e\u7d0430%\u304cBH4\u6b20\u640d\u75c7\u3067\u3059\u304c\u3001\u767d\u4eba\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u6b27\u7c73\u3067\u306f\u308f\u305a\u304b1%\u7a0b\u5ea6\u3067\u3059\u30022024\u5e74\u306b\u767a\u8868\u3055\u308c\u305f\u7814\u7a76\u3067\u306f\u3001\u4e16\u754c\u3067\u5831\u544a\u3055\u308c\u305fPTPS\u6b20\u640d\u75c7\u60a3\u8005\u306e\u6570\u306f\u7d04735\u4f8b\u3068\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>PTPS\u6b20\u640d\u75c7\u306f\u300111\u756a\u67d3\u8272\u4f53\u306e\u300cPTS\u300d\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306b\u751f\u3058\u308b\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u3059\u3002\u300c\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u300d\u3068\u306f\u3001\u7236\u6bcd\u4e21\u65b9\u304b\u3089\u907a\u4f1d\u5b50\u5909\u7570\u3092\u53d7\u3051\u7d99\u3044\u3060\u5834\u5408\u306b\u306e\u307f\u75c5\u6c17\u3092\u767a\u75c7\u3059\u308b\u4ed5\u7d44\u307f\u3067\u3059\u3002\u3053\u306e\u907a\u907a\u4f1d\u5b50\u306f\u3001BH4\u3092\u4f5c\u308b\u969b\u306e\u91cd\u8981\u306a\u9175\u7d20\u300cPTPS\u300d\u3092\u4f5c\u308b\u8a2d\u8a08\u56f3\u3068\u3057\u3066\u6a5f\u80fd\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u9175\u7d20\u306f\u3001BH4\u3092\u4f5c\u308b\u904e\u7a0b\u306e2\u756a\u76ee\u306e\u53cd\u5fdc\u3092\u62c5\u5f53\u3057\u3001\u300c7,8-\u30b8\u30d2\u30c9\u30ed\u30cd\u30aa\u30d7\u30c6\u30ea\u30f3\u30c8\u30ea\u30ea\u30f3\u9178\uff08DHNTP\uff09\u300d\u3068\u3044\u3046\u7269\u8cea\u3092\u300c6-\u30d4\u30eb\u30dc\u30a4\u30eb\u30c6\u30c8\u30e9\u30d2\u30c9\u30ed\u30d7\u30c6\u30ea\u30f3\uff086-PTP\uff09\u300d\u306b\u5909\u63db\u3057\u3066\u3044\u307e\u3059\u3002\u907a\u4f1d\u5b50\u306b\u8d77\u3053\u308b\u5909\u7570\u306b\u3088\u3063\u3066\u3053\u306e\u9175\u7d20\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u304f\u306a\u308b\u3068\u3001BH4\u304c\u5341\u5206\u306b\u4f5c\u3089\u308c\u307e\u305b\u3093\u3002\u3053\u306e\u5909\u7570\u306b\u306f\u3001\u30a2\u30df\u30ce\u9178\u304c\u7f6e\u304d\u63db\u308f\u308b\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u3084\u3001\u907a\u4f1d\u5b50\u306e\u901a\u5e38\u691c\u67fb\u3067\u306f\u898b\u3064\u3051\u306b\u304f\u3044\u6df1\u90e8\u30a4\u30f3\u30c8\u30ed\u30f3\u5909\u7570\uff08\u907a\u4f1d\u5b50\u5185\u306e\u975e\u30b3\u30fc\u30c9\u9818\u57df\u306b\u8d77\u3053\u308b\u5909\u7570\uff09\u304c\u3042\u308a\u3001\u5f8c\u8005\u306f\u907a\u4f1d\u5b50\u306e\u8aad\u307f\u53d6\u308a\u30df\u30b9\u3092\u8d77\u3053\u3057\u3001\u75c7\u72b6\u3092\u91cd\u304f\u3059\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>PTPS\u6b20\u640d\u75c7\u3067\u306f\u3001PTS\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308aBH4\u304c\u5341\u5206\u306b\u4f5c\u3089\u308c\u306a\u304f\u306a\u308a\u307e\u3059\u3002BH4\u304c\u8db3\u308a\u306a\u3044\u3053\u3068\u3067\u3001\u30d5\u30a7\u30cb\u30eb\u30a2\u30e9\u30cb\u30f3\u306e\u4ee3\u8b1d\u3084\u3001\u30c9\u30fc\u30d1\u30df\u30f3\u3001\u30bb\u30ed\u30c8\u30cb\u30f3\u3001\u30a2\u30c9\u30ec\u30ca\u30ea\u30f3\u3001\u30ce\u30eb\u30a2\u30c9\u30ec\u30ca\u30ea\u30f3\u306a\u3069\u91cd\u8981\u306a\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u306e\u5408\u6210\u304c\u4f4e\u4e0b\u3057\u307e\u3059\u3002\u7279\u306b\u30c9\u30fc\u30d1\u30df\u30f3\u304c\u4e0d\u8db3\u3059\u308b\u3068\u3001\u524d\u8ff0\u3057\u305f\u3055\u307e\u3056\u307e\u306a\u795e\u7d4c\u3084\u7cbe\u795e\u75c7\u72b6\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u6df1\u90e8\u30a4\u30f3\u30c8\u30ed\u30f3\u5909\u7570\u3068\u547c\u3070\u308c\u308b\u7279\u6b8a\u306a\u907a\u4f1d\u5b50\u5909\u7570\u304c\u539f\u56e0\u3067\u7570\u5e38\u306a\u907a\u4f1d\u5b50\u8aad\u307f\u53d6\u308a\uff08\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\uff09\u304c\u8d77\u304d\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u3053\u308c\u306f\u901a\u5e38\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u306f\u898b\u3064\u3051\u306b\u304f\u304f\u3001\u8a3a\u65ad\u3084\u6cbb\u7642\u3092\u96e3\u3057\u304f\u3057\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>PTPS\u6b20\u640d\u75c7\u3067\u306f\u3001\u9ad8\u30d5\u30a7\u30cb\u30eb\u30a2\u30e9\u30cb\u30f3\u8840\u75c7\u306b\u3088\u308b\u8133\u3078\u306e\u5f71\u97ff\u3068\u3001\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u306e\u4e0d\u8db3\u304b\u3089\u3055\u307e\u3056\u307e\u306a\u795e\u7d4c\u75c7\u72b6\u3084\u7cbe\u795e\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002\u5178\u578b\u7684\u306b\u306f\u767a\u9054\u306e\u9045\u308c\u3001\u7b4b\u8089\u306e\u5f31\u3055\uff08\u4f4e\u7dca\u5f35\uff09\u3001\u624b\u8db3\u3084\u4f53\u306e\u52d5\u304d\u304c\u3086\u3063\u304f\u308a\u306b\u306a\u308b\u75c7\u72b6\uff08\u5f90\u52d5\uff09\u3001\u7b4b\u8089\u304c\u52dd\u624b\u306b\u53ce\u7e2e\u3057\u3066\u7570\u5e38\u306a\u59ff\u52e2\u306b\u306a\u308b\uff08\u30b8\u30b9\u30c8\u30cb\u30a2\uff09\u3001\u98f2\u307f\u8fbc\u307f\u306b\u304f\u3055\u3001\u4f53\u6e29\u8abf\u7bc0\u7570\u5e38\uff08\u9ad8\u71b1\uff09\u3001\u3051\u3044\u308c\u3093\u767a\u4f5c\u3001\u76ee\u304c\u4e0a\u3092\u5411\u3044\u3066\u52d5\u304b\u306a\u304f\u306a\u308b\uff08\u773c\u7403\u4e0a\u8ee2\u767a\u4f5c\uff09\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002\u6ce8\u610f\u6b20\u9665\u591a\u52d5\u6027\u969c\u5bb3\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\uff09\u3001\u4e0d\u5b89\u3001\u3046\u3064\u3001\u653b\u6483\u6027\u3001\u53cd\u6297\u7684\u306a\u884c\u52d5\u306a\u3069\u306e\u7cbe\u795e\u75c7\u72b6\u3082\u983b\u7e41\u306b\u73fe\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u7cbe\u795e\u75c7\u72b6\u306f\u6cbb\u7642\u3092\u53d7\u3051\u3066\u3082\u6539\u5584\u304c\u96e3\u3057\u304f\u3001\u65e5\u5e38\u751f\u6d3b\u306b\u5927\u304d\u306a\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u30c9\u30fc\u30d1\u30df\u30f3\u4e0d\u8db3\u306b\u3088\u308a\u30d7\u30ed\u30e9\u30af\u30c1\u30f3\u3068\u3044\u3046\u30db\u30eb\u30e2\u30f3\u304c\u7570\u5e38\u306b\u5897\u3048\u308b\u300c\u9ad8\u30d7\u30ed\u30e9\u30af\u30c1\u30f3\u8840\u75c7\u300d\u3082\u591a\u304f\u3001\u7279\u306b\u601d\u6625\u671f\u4ee5\u964d\u306e\u5973\u6027\u3067\u306f\u751f\u7406\u4e0d\u9806\u3084\u7121\u6708\u7d4c\u3001\u4e73\u623f\u306e\u75db\u307f\u3084\u816b\u308c\u306a\u3069\u306e\u75c7\u72b6\u304c\u51fa\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>PTPS\u6b20\u6b20\u640d\u75c7\u306f\u4e3b\u306b\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff08\u751f\u5f8c\u307e\u3082\u306a\u304f\u884c\u3046\u691c\u67fb\uff09\u3067\u767a\u898b\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u8840\u6db2\u4e2d\u306e\u30d5\u30a7\u30cb\u30eb\u30a2\u30e9\u30cb\u30f3\u304c\u9ad8\u3044\u3053\u3068\u304c\u6700\u521d\u306e\u624b\u304c\u304b\u308a\u3068\u306a\u308a\u307e\u3059\u3002\u78ba\u5b9a\u8a3a\u65ad\u306e\u305f\u3081\u306b\u306f\u3001\u8133\u810a\u9ac4\u6db2\uff08\u8133\u3084\u810a\u9ac4\u306e\u5468\u56f2\u3092\u6d41\u308c\u308b\u6db2\u4f53\uff09\u4e2d\u306e\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u306e\u4ee3\u8b1d\u7523\u7269\u3067\u3042\u308b\u300c\u30db\u30e2\u30d0\u30cb\u30ea\u30f3\u9178\uff08HVA\uff09\u300d\u3084\u300c5-\u30d2\u30c9\u30ed\u30ad\u30b7\u30a4\u30f3\u30c9\u30fc\u30eb\u9162\u9178\uff085-HIAA\uff09\u300d\u304c\u4f4e\u4e0b\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u30d7\u30ed\u30e9\u30af\u30c1\u30f3\u306e\u9ad8\u5024\u3082\u8a3a\u65ad\u306e\u53c2\u8003\u306b\u306a\u308a\u307e\u3059\u3002\u907a\u4f1d\u5b50\u691c\u67fb\u3001\u3068\u304f\u306b\u6df1\u90e8\u30a4\u30f3\u30c8\u30ed\u30f3\u5909\u7570\u3082\u691c\u51fa\u3067\u304d\u308bRNA\uff08\u30ea\u30dc\u6838\u9178\uff09\u89e3\u6790\u6280\u8853\u304c\u8a3a\u65ad\u3092\u78ba\u5b9f\u306b\u3057\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>PTPS\u6b20\u640d\u75c7\u306e\u4e3b\u306a\u6cbb\u7642\u306f\u3001BH4\u3084\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u306e\u524d\u99c6\u7269\u8cea\u3067\u3042\u308b\u30ec\u30dc\u30c9\u30d1\uff08\u30c9\u30fc\u30d1\u30df\u30f3\u7528\uff09\u30845-\u30d2\u30c9\u30ed\u30ad\u30b7\u30c8\u30ea\u30d7\u30c8\u30d5\u30a1\u30f3\uff08\u30bb\u30ed\u30c8\u30cb\u30f3\u7528\uff09\u306e\u88dc\u5145\u7642\u6cd5\u3067\u3059\u3002\u305f\u3060\u3057\u3001BH4\u306f\u8133\u5185\u3078\u306e\u79fb\u884c\u304c\u96e3\u3057\u304f\u3001\u52b9\u679c\u306b\u9650\u754c\u304c\u3042\u308a\u307e\u3059\u3002\u9ad8\u30d7\u30ed\u30e9\u30af\u30c1\u30f3\u8840\u75c7\u306b\u5bfe\u3057\u3066\u306f\u30ab\u30d9\u30eb\u30b4\u30ea\u30f3\u306a\u3069\u9577\u6642\u9593\u4f5c\u7528\u578b\u30c9\u30fc\u30d1\u30df\u30f3\u4f5c\u52d5\u85ac\u304c\u4f7f\u308f\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u73fe\u5728\u7814\u7a76\u4e2d\u306eRNA\u3092\u4f7f\u3063\u305f\u65b0\u305f\u306a\u6cbb\u7642\u6cd5\uff08\u30a2\u30f3\u30c1\u30bb\u30f3\u30b9\u6838\u9178\u6cbb\u7642\uff09\u3082\u6ce8\u76ee\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>PTPS\u6b20\u640d\u75c7\u306f\u65e9\u671f\u767a\u898b\u3068\u65e9\u671f\u6cbb\u7642\u304c\u91cd\u8981\u3067\u3001\u6cbb\u7642\u3092\u53d7\u3051\u305f\u60a3\u8005\u306f\u75c7\u72b6\u304c\u6539\u5584\u3057\u307e\u3059\u304c\u3001\u7cbe\u795e\u75c7\u72b6\u3084\u5185\u5206\u6ccc\u75c7\u72b6\u304c\u6b8b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u9577\u671f\u7684\u306b\u306f\u7d99\u7d9a\u7684\u306a\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3042\u308a\u3001\u5b9a\u671f\u7684\u306a\u8a3a\u5bdf\u3084\u5408\u4f75\u75c7\u306e\u4e88\u9632\u304c\u91cd\u8981\u3068\u306a\u308a\u307e\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:\/\/doi.org\/10.1016\/j.ymgme.2021.04.003\">Himmelreich, N., Blau, N., &amp; Th\u00f6ny, B. (2021). Molecular and metabolic bases of tetrahydrobiopterin (Bh4) deficiencies. <em>Molecular Genetics and Metabolism<\/em>, <em>133<\/em>(2), 123\u2013136. https:\/\/doi.org\/10.1016\/j.ymgme.2021.04.003<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s13023-023-02963-4\">Hsu, RH., Lee, NC., Chen, HA. <em>et al.<\/em> Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency. <em>Orphanet J Rare Dis<\/em> <strong>18<\/strong>, 351 (2023). https:\/\/doi.org\/10.1186\/s13023-023-02963-4<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1055\/s-0042-1742323\">Parfyonov, M., Friedlander, R., Banno, B., Elbe, D., &amp; Horvath, G. (2022). Psychiatric manifestations in patients with biopterin defects. <em>Neuropediatrics<\/em>, <em>53<\/em>(03), 176\u2013181. https:\/\/doi.org\/10.1055\/s-0042-1742323<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1042\/BST20231061\">Tai, M. D. S., Gamiz-Arco, G., &amp; Martinez, A. (2024). Dopamine synthesis and transport: Current and novel therapeutics for parkinsonisms. <em>Biochemical Society Transactions<\/em>, <em>52<\/em>(3), 1275\u20131291. https:\/\/doi.org\/10.1042\/BST20231061<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1089\/nat.2021.0066\">Mart\u00ednez-Pizarro, A., Leal, F., Holm, L. L., Doktor, T. K., Petersen, U. S. S., Bueno, M., Th\u00f6ny, B., P\u00e9rez, B., Andresen, B. S., &amp; Desviat, L. R. (2022). Antisense oligonucleotide rescue of deep-intronic variants activating pseudoexons in the 6-pyruvoyl-tetrahydropterin synthase gene. <em>Nucleic Acid Therapeutics<\/em>, <em>32<\/em>(5), 378\u2013390. https:\/\/doi.org\/10.1089\/nat.2021.0066<\/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>PTPS\u6b20\u640d\u75c7, 6-\u30d4\u30eb\u30dc\u30a4\u30eb\u30c6\u30c8\u30e9\u30d2\u30c9\u30ed\u30d7\u30c6\u30ea\u30f3\u5408\u6210\u9175\u7d20\u6b20\u640d\u75c7, PTS\u907a\u4f1d\u5b50, BH4\u6b20\u640d\u75c7, \u9ad8\u30d5\u30a7\u30cb\u30eb\u30a2\u30e9\u30cb\u30f3\u8840\u75c7, \u30c9\u30fc\u30d1\u30df\u30f3\u6b20\u4e4f\u75c7, \u30bb\u30ed\u30c8\u30cb\u30f3\u4e0d\u8db3, \u9ad8\u30d7\u30ed\u30e9\u30af\u30c1\u30f3\u8840\u75c7, \u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d, \u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570, \u6df1\u90e8\u30a4\u30f3\u30c8\u30ed\u30f3\u5909\u7570, \u30a2\u30f3\u30c1\u30bb\u30f3\u30b9\u6838\u9178\u6cbb\u7642, \u30ec\u30dc\u30c9\u30d1, 5-\u30d2\u30c9\u30ed\u30ad\u30b7\u30c8\u30ea\u30d7\u30c8\u30d5\u30a1\u30f3, <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>, \u30b8\u30b9\u30c8\u30cb\u30a2<\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-60306","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\/60306","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":13,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60306\/revisions"}],"predecessor-version":[{"id":128104,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60306\/revisions\/128104"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=60306"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}