{"id":121782,"date":"2026-01-07T17:11:55","date_gmt":"2026-01-07T08:11:55","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=121782"},"modified":"2026-03-03T17:58:52","modified_gmt":"2026-03-03T08:58:52","slug":"segawa-syndrome","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/segawa-syndrome\/","title":{"rendered":"\u702c\u5ddd\u75c7\u5019\u7fa4\uff08TH\u95a2\u9023\uff09"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u6982\u8981<\/strong><\/h2>\n\n\n\n<p>\u702c\u5ddd\u75c7\u5019\u7fa4\uff08Segawa Syndrome\uff09\u306f\u3001\u30c9\u30d1\u30df\u30f3\u5408\u6210\u306b\u95a2\u4e0e\u3059\u308b\u9175\u7d20\u3067\u3042\u308b <strong>\u30c1\u30ed\u30b7\u30f3\u6c34\u9178\u5316\u9175\u7d20\uff08tyrosine hydroxylase\uff1aTH\uff09<\/strong> \u306e\u6a5f\u80fd\u4f4e\u4e0b\u306b\u4f34\u3044\u3001<strong>\u30c9\u30d1\u30df\u30f3\u306e\u7523\u751f\u4f4e\u4e0b\u3092\u4e3b\u56e0\u3068\u3059\u308b\u904b\u52d5\u969c\u5bb3\u6027\u75be\u60a3<\/strong>\u3067\u3059\u3002\u4e00\u822c\u306b <strong>\u30c9\u30d1\u30df\u30f3\u4f5c\u52d5\u6027\u30b8\u30b9\u30c8\u30cb\u30a2\uff08dopa-responsive dystonia\uff1aDRD\uff09<\/strong> \u3068\u3057\u3066\u77e5\u3089\u308c\u308b\u75c7\u5019\u7fa4\u306e\u4e00\u90e8\u306b\u5c5e\u3057\u3001TH\u907a\u4f1d\u5b50\u95a2\u9023\u4f8b\u306f <strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/strong> \u3067\u767a\u75c7\u3059\u308b\u307e\u308c\u306a\u30bf\u30a4\u30d7\u3067\u3059\u3002TH\u306f\u3001\u30a2\u30df\u30ce\u9178\u30c1\u30ed\u30b7\u30f3\u3092L-DOPA\u306b\u5909\u63db\u3059\u308b\u4ee3\u8b1d\u306e\u5f8b\u901f\u9175\u7d20\u3067\u3001\u3053\u308c\u306f\u30c9\u30d1\u30df\u30f3\u306e\u524d\u99c6\u7269\u8cea\u3068\u306a\u308a\u307e\u3059\u3002TH\u907a\u4f1d\u5b50\u306b\u75c5\u7684\u5909\u7570\u304c\u3042\u308b\u3068\u3001\u30c9\u30d1\u30df\u30f3\u7523\u751f\u304c\u969c\u5bb3\u3055\u308c\u3001\u904b\u52d5\u8abf\u7bc0\u6a5f\u69cb\u306b\u5f71\u97ff\u304c\u751f\u3058\u307e\u3059\u3002(<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC9772685\/?utm_source=chatgpt.com\">PMC<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u75ab\u5b66<\/strong><\/h2>\n\n\n\n<p>\u702c\u5ddd\u75c7\u5019\u7fa4\u5168\u822c\u306f\u7a00\u5c11\u306a\u904b\u52d5\u969c\u5bb3\u3067\u3042\u308a\u3001\u5178\u578b\u7684\u306b\u306fGCH1\u907a\u4f1d\u5b50\u5909\u7570\u4f8b\u304c\u591a\u3044\u3082\u306e\u306e\u3001TH\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308b\u4f8b\u306f <strong>\u3055\u3089\u306b\u7a00\u3067\u3059<\/strong>\u3002TH\u95a2\u9023\u306e\u702c\u5ddd\u75c7\u5019\u7fa4\u306f\u4e16\u754c\u7684\u306b\u5831\u544a\u4f8b\u304c\u5c11\u306a\u304f\u3001\u4e00\u822c\u7684\u306a\u6709\u75c5\u7387\u306f\u660e\u78ba\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\u3067\u3042\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC9772685\/?utm_source=chatgpt.com\">PMC<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p>\u702c\u5ddd\u75c7\u5019\u7fa4\uff08TH\u95a2\u9023\uff09\u306f\u3001<strong>TH\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570<\/strong>\u306b\u3088\u308a\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002TH\u907a\u4f1d\u5b50\u306f\u3001\u30c1\u30ed\u30b7\u30f3\u6c34\u9178\u5316\u9175\u7d20\u3092\u30b3\u30fc\u30c9\u3057\u3001L-\u30c1\u30ed\u30b7\u30f3\u304b\u3089L-DOPA\u3078\u306e\u5909\u63db\u3068\u3044\u3046 <strong>\u30c9\u30d1\u30df\u30f3\u5408\u6210\u306e\u521d\u671f\u30b9\u30c6\u30c3\u30d7\u3092\u62c5\u3046\u9650\u901f\u9175\u7d20<\/strong> \u3092\u7523\u751f\u3057\u307e\u3059\u3002TH\u6a5f\u80fd\u304c\u969c\u5bb3\u3055\u308c\u308b\u3068\u3001\u30c9\u30d1\u30df\u30f3\u3068\u305d\u306e\u4ed6\u30ab\u30c6\u30b3\u30fc\u30eb\u30a2\u30df\u30f3\uff08\u30ce\u30eb\u30a2\u30c9\u30ec\u30ca\u30ea\u30f3\u30fb\u30a2\u30c9\u30ec\u30ca\u30ea\u30f3\uff09\u306e\u5408\u6210\u304c\u4f4e\u4e0b\u3057\u3001\u795e\u7d4c\u4f1d\u9054\u7cfb\u306b\u4e0d\u5747\u8861\u3092\u6765\u3057\u307e\u3059\u3002(<a href=\"https:\/\/en.wikipedia.org\/wiki\/TH_%28gene%29?utm_source=chatgpt.com\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/a>)<\/p>\n\n\n\n<p>\u907a\u4f1d\u5f62\u5f0f\u306f <strong>\u5e38\u67d3\u8272\u4f53\u52a3\u6027<\/strong> \u3067\u3001\u4e21\u89aa\u304b\u30891\u3064\u305a\u3064\u75c5\u7684\u5909\u7570\u3092\u53d7\u3051\u7d99\u3050\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002(<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/101150?utm_source=chatgpt.com\">orpha.net<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u75c7\u72b6<\/strong><\/h2>\n\n\n\n<p>\u702c\u5ddd\u75c7\u5019\u7fa4\uff08TH\u95a2\u9023\uff09\u306f\u3001\u30c9\u30d1\u30df\u30f3\u4e0d\u8db3\u306b\u4f34\u3046<strong>\u904b\u52d5\u969c\u5bb3<\/strong>\u3084<strong>\u795e\u7d4c\u75c7\u72b6<\/strong>\u3092\u5448\u3057\u307e\u3059\u3002\u75c7\u72b6\u306f\u5e45\u5e83\u3044\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3092\u6301\u3061\u3001\u8efd\u75c7\uff5e\u91cd\u75c7\u307e\u3067\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002(<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC9772685\/?utm_source=chatgpt.com\">PMC<\/a>)<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u4e3b\u306a\u81e8\u5e8a\u75c7\u72b6<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30b8\u30b9\u30c8\u30cb\u30a2<\/strong>\uff08\u7b4b\u7dca\u5f35\u7570\u5e38\u306b\u3088\u308b\u7570\u5e38\u59ff\u52e2\u30fb\u52d5\u4f5c\uff09<\/li>\n\n\n\n<li>\u75b2\u52b4\u3084\u65e5\u5185\u5909\u52d5\uff08\u75c7\u72b6\u304c\u671d\u3088\u308a\u5915\u65b9\u60aa\u5316\uff09<\/li>\n\n\n\n<li>\u6b69\u884c\u56f0\u96e3\u3001\u30d0\u30e9\u30f3\u30b9\u969c\u5bb3<\/li>\n\n\n\n<li><strong>\u30c8\u30ec\u30e2\u30fc\u30eb\uff08\u632f\u6226\uff09<\/strong> \u3084\u305d\u306e\u4ed6\u4e0d\u968f\u610f\u904b\u52d5<\/li>\n\n\n\n<li>\u5c0f\u5150\u767a\u75c7\u4f8b\u3067\u306f\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u904b\u52d5\u767a\u9054\u9045\u6ede<\/li>\n\n\n\n<li>\u91cd\u75c7\u4f8b\u3067\u306f\u9032\u884c\u6027\u4e73\u5150\u671f\u8133\u75c7\u3001\u30d1\u30fc\u30ad\u30f3\u30bd\u30cb\u30ba\u30e0\u69d8\u75c7\u72b6\u306a\u3069\u306e\u795e\u7d4c\u75c7\u72b6\u3082\u5831\u544a\u3042\u308a<\/li>\n<\/ul>\n\n\n\n<p>\u4e00\u822c\u306b\u3001\u30b8\u30b9\u30c8\u30cb\u30a2\u30fb\u52d5\u4f5c\u969c\u5bb3\u306f<strong>L-DOPA\u3078\u306e\u53cd\u5fdc\u6027\u304c\u9ad8\u3044<\/strong>\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u304c\u3001TH\u5909\u7570\u4f8b\u3067\u306f\u4ed6\u306eDRD\u539f\u56e0\uff08\u4f8b\uff1aGCH1\uff09\u3068\u6bd4\u3079\u3066\u9077\u5ef6\u7684\u306a\u53cd\u5fdc\u30fb\u526f\u4f5c\u7528\u3092\u793a\u3059\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1437\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad<\/strong><\/h2>\n\n\n\n<p>\u702c\u5ddd\u75c7\u5019\u7fa4\uff08TH\u95a2\u9023\uff09\u306e\u8a3a\u65ad\u306f\u3001\u4ee5\u4e0b\u306e\u89b3\u70b9\u304b\u3089\u7dcf\u5408\u7684\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u81e8\u5e8a\u6240\u898b<\/strong><strong><br><\/strong>\u3000\u30fb\u6b69\u884c\u56f0\u96e3\u3084\u30b8\u30b9\u30c8\u30cb\u30a2\u306a\u3069\u306e\u904b\u52d5\u969c\u5bb3<br>\u3000\u30fb\u75c7\u72b6\u306e\u65e5\u5185\u5909\u52d5\uff08\u4e00\u822c\u306b\u5915\u65b9\u306b\u60aa\u5316\uff09<\/li>\n\n\n\n<li><strong>\u6cbb\u7642\u53cd\u5fdc\u6027\u306e\u8a55\u4fa1<\/strong><strong><br><\/strong>\u3000\u30fb<strong>L-DOPA\u6295\u4e0e\u8a66\u9a13<\/strong>\uff1a\u591a\u304f\u306e\u4f8b\u3067\u75c7\u72b6\u6539\u5584\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u304c\u8a3a\u65ad\u7684\u306b\u6709\u7528\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1437\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb<\/strong><strong><br><\/strong>\u3000\u30fb<strong>TH\u907a\u4f1d\u5b50\u89e3\u6790<\/strong>\uff1a\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u75c5\u7684\u5909\u7570\u306e\u540c\u5b9a\u304c\u5fc5\u8981\u3067\u3059\u3002(<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC9772685\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n\n\n\n<li><strong>\u9451\u5225\u8a3a\u65ad<\/strong><strong><br><\/strong>\u3000\u30fb\u305d\u306e\u4ed6\u306e\u907a\u4f1d\u6027\u30b8\u30b9\u30c8\u30cb\u30a2\uff08\u4f8b\uff1aGCH1\u5909\u7570\u306b\u3088\u308bDRD\uff09\u3068\u306e\u9451\u5225\u304c\u5fc5\u8981\u3067\u3059\u3002(<a href=\"https:\/\/en.wikipedia.org\/wiki\/Dopamine-responsive_dystonia?utm_source=chatgpt.com\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/a>)<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642<\/strong><\/h2>\n\n\n\n<p>\u702c\u5ddd\u75c7\u5019\u7fa4\uff08TH\u95a2\u9023\uff09\u306e\u6cbb\u7642\u306f\u3001\u4e3b\u306b<strong>\u30c9\u30d1\u30df\u30f3\u88dc\u5145\u7642\u6cd5\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u5bfe\u75c7\u7642\u6cd5<\/strong>\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>L-DOPA\u6295\u4e0e<\/strong>\uff1a\u591a\u304f\u306e\u75c7\u4f8b\u3067\u6709\u52b9\u3067\u3042\u308a\u3001\u904b\u52d5\u75c7\u72b6\u306e\u5927\u5e45\u306a\u6539\u5584\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1437\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>L-DOPA\u611f\u53d7\u6027\u8a66\u9a13<\/strong>\u304a\u3088\u3073<strong>\u5f90\u653e\u6027\u6295\u4e0e<\/strong>\uff1a\u526f\u4f5c\u7528\uff08\u30b8\u30b9\u30ad\u30cd\u30b8\u30a2\u306a\u3069\uff09\u3092\u898b\u306a\u304c\u3089\u614e\u91cd\u306b\u8abf\u6574\u3057\u307e\u3059\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1437\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3084\u7269\u7406\u7642\u6cd5\u306a\u3069\u306e<strong>\u975e\u85ac\u7269\u7642\u6cd5<\/strong>\u3082\u904b\u52d5\u6a5f\u80fd\u7dad\u6301\u306e\u88dc\u52a9\u3068\u3057\u3066\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u91cd\u75c7\u795e\u7d4c\u75c7\u72b6\u4f8b\u3067\u306f\u591a\u8077\u7a2e\u306b\u3088\u308b\u7dcf\u5408\u7684\u306a\u652f\u6301\u7642\u6cd5\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e\u5143<\/strong><\/h2>\n\n\n\n<p>\u4ee5\u4e0b\u306e\u6587\u732e\u30fb\u60c5\u5831\u6e90\u3092\u672c\u30da\u30fc\u30b8\u306e\u4f5c\u6210\u306b\u7528\u3044\u307e\u3057\u305f\uff1a<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Furukawa Y., et al. <em>Tyrosine Hydroxylase Deficiency &#8211; GeneReviews\u00ae.<\/em> NCBI Bookshelf \u2014 TH\u6b20\u640d\u3068DRD\u306e\u81e8\u5e8a\u50cf\u30fb\u53cd\u5fdc\u6027\u306b\u3064\u3044\u3066\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1437\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li>MedlinePlus Genetics. <em>Tyrosine hydroxylase deficiency.<\/em> \u2014 TH\u95a2\u9023\u75be\u60a3\u306e\u75c7\u72b6\u3068\u6cbb\u7642\u53cd\u5fdc\u6027\u3002(<a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/tyrosine-hydroxylase-deficiency\/?utm_source=chatgpt.com\">MedlinePlus<\/a>)<\/li>\n\n\n\n<li>Wang Y., et al. <em>Segawa syndrome caused by TH gene mutation\u2026<\/em> PubMed Central \u2014 TH\u907a\u4f1d\u5b50\u5909\u7570\u4f8b\u306e\u81e8\u5e8a\u50cf\u89e3\u6790\u3002(<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC9772685\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n\n\n\n<li>Orpha.net. <em>Autosomal recessive dopa-responsive dystonia (TYH gene).<\/em> \u2014 TH\u6b20\u640d\u306e\u907a\u4f1d\u5b66\u3068\u75be\u60a3\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3002(<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/101150?utm_source=chatgpt.com\">orpha.net<\/a>)<\/li>\n\n\n\n<li>Wikipedia. <em>Dopamine-responsive dystonia<\/em> \u2014 Segawa\u75c7\u5019\u7fa4\u5168\u822c\u306e\u89e3\u8aac\uff08GCH1\/TH\uff09\u3068\u3057\u3066\u3002(<a href=\"https:\/\/en.wikipedia.org\/wiki\/Dopamine-responsive_dystonia?utm_source=chatgpt.com\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/a>)<\/li>\n<\/ol>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-121782","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\/121782","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":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/121782\/revisions"}],"predecessor-version":[{"id":125318,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/121782\/revisions\/125318"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121782"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}