{"id":121948,"date":"2026-01-08T10:38:00","date_gmt":"2026-01-08T01:38:00","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=121948"},"modified":"2026-01-08T10:38:01","modified_gmt":"2026-01-08T01:38:01","slug":"pyruvate-dehydrogenase-deficiency-x-linked-pdha1","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pyruvate-dehydrogenase-deficiency-x-linked-pdha1\/","title":{"rendered":"\u30d4\u30eb\u30d3\u30f3\u9178\u8131\u6c34\u7d20\u9175\u7d20\u8907\u5408\u4f53\u6b20\u640d\u75c7"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u6982\u8981<\/strong><\/h2>\n\n\n\n<p>\u30d4\u30eb\u30d3\u30f3\u9178\u8131\u6c34\u7d20\u9175\u7d20\u8907\u5408\u4f53\u6b20\u640d\u75c7\uff08PDH\u6b20\u640d\u75c7\uff09\u306f\u3001\u89e3\u7cd6\u7cfb\u3067\u751f\u3058\u305f\u30d4\u30eb\u30d3\u30f3\u9178\u3092\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u3067\u30a2\u30bb\u30c1\u30ebCoA\u306b\u5909\u63db\u3059\u308b\u9175\u7d20\u8907\u5408\u4f53\u306e\u6a5f\u80fd\u969c\u5bb3\u306b\u3088\u308a\u767a\u75c7\u3059\u308b\u5148\u5929\u4ee3\u8b1d\u7570\u5e38\u75c7\u3067\u3059\u3002\u30a8\u30cd\u30eb\u30ae\u30fc\u7523\u751f\u304c\u969c\u5bb3\u3055\u308c\u3001\u7279\u306b\u4e2d\u67a2\u795e\u7d4c\u7cfb\u306b\u91cd\u7be4\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\u3002X\u9023\u9396\u578b\u306e\u591a\u304f\u306fPDHA1\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u75ab\u5b66<\/strong><\/h2>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u7a00\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u6b63\u78ba\u306a\u6709\u75c5\u7387\u306f\u4e0d\u660e\u3067\u3059\u304c\u3001\u6570\u4e07\u4eba\u301c10\u4e07\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u75c5\u56e0<\/strong><\/h3>\n\n\n\n<p>\u672c\u75be\u60a3\u306fPDHA1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u3001\u30d4\u30eb\u30d3\u30f3\u9178\u8131\u6c34\u7d20\u9175\u7d20\u8907\u5408\u4f53\u306eE1\u03b1\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u306e\u6a5f\u80fd\u304c\u4f4e\u4e0b\u307e\u305f\u306f\u6b20\u640d\u3059\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u7d50\u679c\u3001\u30d4\u30eb\u30d3\u30f3\u9178\u304c\u30a2\u30bb\u30c1\u30ebCoA\u3078\u5909\u63db\u3055\u308c\u305a\u3001\u4e73\u9178\u306b\u5909\u63db\u3055\u308c\u3066\u84c4\u7a4d\u3057\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3092\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u907a\u4f1d\u5f62\u5f0f<\/strong><\/h3>\n\n\n\n<p>X\u9023\u9396\u6027\u907a\u4f1d\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3064\u3044\u3066<\/strong><\/h3>\n\n\n\n<p>PDHA1\u907a\u4f1d\u5b50\u306f\u5f53\u9662\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u89e3\u6790\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u75c7\u72b6<\/strong><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u4e3b\u306a\u75c7\u72b6<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u65b0\u751f\u5150\u671f\u304b\u3089\u306e\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9<\/li>\n\n\n\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/li>\n\n\n\n<li>\u767a\u9054\u9045\u6ede\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a><\/li>\n\n\n\n<li>\u3066\u3093\u304b\u3093\u767a\u4f5c<\/li>\n\n\n\n<li>\u547c\u5438\u969c\u5bb3<\/li>\n\n\n\n<li>\u6442\u98df\u969c\u5bb3<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u305d\u306e\u4ed6<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u982d\u75c7<\/li>\n\n\n\n<li>\u8133\u5f62\u6210\u7570\u5e38\uff08\u8133\u6881\u6b20\u640d\u3001\u5c0f\u8133\u4f4e\u5f62\u6210\u306a\u3069\uff09<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad<\/strong><\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u65b0\u751f\u5150\u671f\u304b\u3089\u306e\u539f\u56e0\u4e0d\u660e\u306e\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3067\u7591\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8840\u4e2d\u4e73\u9178\u30fb\u30d4\u30eb\u30d3\u30f3\u9178\u6bd4\u306e\u7570\u5e38\u3092\u8a8d\u3081\u307e\u3059\u3002<\/li>\n\n\n\n<li>MRI\u3067\u8133\u5f62\u6210\u7570\u5e38\u3084\u8133\u840e\u7e2e\u3092\u8a8d\u3081\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a\u304c\u88dc\u52a9\u8a3a\u65ad\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>PDHA1\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u540c\u5b9a\u306b\u3088\u308a\u78ba\u5b9a\u8a3a\u65ad\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642<\/strong><\/h2>\n\n\n\n<p>\u6839\u672c\u6cbb\u7642\u306f\u78ba\u7acb\u3057\u3066\u304a\u3089\u305a\u3001\u4ee3\u8b1d\u7ba1\u7406\u3068\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30b1\u30c8\u30f3\u98df\u7642\u6cd5\uff08\u70ad\u6c34\u5316\u7269\u5236\u9650\u30fb\u8102\u8cea\u4e2d\u5fc3\uff09<\/li>\n\n\n\n<li>\u30c1\u30a2\u30df\u30f3\u88dc\u5145\u7642\u6cd5\uff08\u53cd\u5fdc\u6027\u306e\u3042\u308b\u75c7\u4f8b\uff09<\/li>\n\n\n\n<li>\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u306e\u7ba1\u7406<\/li>\n\n\n\n<li>\u3066\u3093\u304b\u3093\u6cbb\u7642<\/li>\n\n\n\n<li>\u6804\u990a\u7ba1\u7406\u30fb\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u3010\u53c2\u8003\u6587\u732e\u3011<\/strong><\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li>GeneReviews\u00ae: <em>Pyruvate Dehydrogenase Deficiency<\/em><\/li>\n\n\n\n<li>MedlinePlus Genetics: <em>Pyruvate dehydrogenase deficiency<\/em><\/li>\n\n\n\n<li>OMIM: PDHA1-related pyruvate dehydrogenase deficiency<\/li>\n\n\n\n<li>\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\uff1a\u30d4\u30eb\u30d3\u30f3\u9178\u8131\u6c34\u7d20\u9175\u7d20\u8907\u5408\u4f53\u6b20\u640d\u75c7<\/li>\n<\/ol>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-121948","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\/121948","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":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/121948\/revisions"}],"predecessor-version":[{"id":121950,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/121948\/revisions\/121950"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121948"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}