{"id":33642,"date":"2022-07-11T17:26:14","date_gmt":"2022-07-11T08:26:14","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33642"},"modified":"2026-04-28T13:39:36","modified_gmt":"2026-04-28T04:39:36","slug":"pyruvate-dehydrogenase-deficiency-pdhb-related","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pyruvate-dehydrogenase-deficiency-pdhb-related\/","title":{"rendered":"\u30d4\u30eb\u30d3\u30f3\u9178\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\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>\u30d4\u30eb\u30d3\u30f3\u9178\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u8907\u5408\u4f53\uff08PDHc\uff09\u6b20\u640d\u75c7\u306f\u3001\u7cd6\u4ee3\u8b1d\u306b\u95a2\u4e0e\u3059\u308b\u91cd\u8981\u306a\u9175\u7d20\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u767a\u75c7\u3059\u308b\u5e0c\u5c11\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u7279\u306bPDHB\u907a\u4f1d\u5b50\u5909\u7570\u304c\u95a2\u4e0e\u3059\u308b\u30b1\u30fc\u30b9\u3067\u306f\u3001\u795e\u7d4c\u767a\u9054\u9045\u6ede\u3084\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u304c\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u3068\u3057\u3066\u73fe\u308c\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001PDHB\u95a2\u9023PDHc\u6b20\u640d\u75c7\u306e\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u306e\u73fe\u72b6\u306b\u3064\u3044\u3066\u8a73\u3057\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>PDHB\uff5cPyruvate Dehydrogenase Deficiency (PDHB-related)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u30d4\u30eb\u30d3\u30f3\u9178\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u8907\u5408\u4f53\uff08PDHc\uff09\u6b20\u640d\u75c7\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u3067\u7cd6\u4ee3\u8b1d\u3092\u62c5\u3046\u91cd\u8981\u306a\u9175\u7d20\u306e\u6a5f\u80fd\u7570\u5e38\u306b\u3088\u308a\u3001\u30a8\u30cd\u30eb\u30ae\u30fc\u7523\u751f\u304c\u963b\u5bb3\u3055\u308c\u308b\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3042\u308b\u3002\u7279\u306b\u3001PDHB\uff08\u30d4\u30eb\u30d3\u30f3\u9178\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bcE1\u03b2\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\uff09\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308bPDHc\u6b20\u640d\u75c7\u306f\u7a00\u3067\u3042\u308a\u3001\u4e3b\u306b\u4e2d\u67a2\u795e\u7d4c\u7cfb\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3002\u81e8\u5e8a\u75c7\u72b6\u306f\u3001\u65b0\u751f\u5150\u671f\u304b\u3089\u5e7c\u5150\u671f\u306b\u304b\u3051\u3066\u767a\u75c7\u3057\u3001\u767a\u9054\u9045\u6ede\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u75d9\u6523\u3001\u904b\u52d5\u5931\u8abf\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3002\u8133\u306eMRI\u3067\u306f\u3001\u8133\u6881\u5f62\u6210\u4e0d\u5168\u3001\u30e9\u30a4\u75c7\u5019\u7fa4\u69d8\u75c5\u5909\u3001\u8133\u5ba4\u62e1\u5927\u306a\u3069\u306e\u7570\u5e38\u304c\u89b3\u5bdf\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3002<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u4e3b\u306b\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308a\u3001\u8a3a\u65ad\u306b\u306f\u907a\u4f1d\u5b50\u89e3\u6790\u304a\u3088\u3073\u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a\u304c\u7528\u3044\u3089\u308c\u308b\u3002\u6cbb\u7642\u3068\u3057\u3066\u306f\u3001\u7cd6\u8cea\u4ee3\u8b1d\u306e\u8ca0\u62c5\u3092\u8efd\u6e1b\u3059\u308b\u305f\u3081\u306e\u30b1\u30c8\u30f3\u98df\u7642\u6cd5\u3084\u30c1\u30a2\u30df\u30f3\u88dc\u5145\u7642\u6cd5\u304c\u63a8\u5968\u3055\u308c\u308b\u304c\u3001\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u306a\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>PDHc\u6b20\u640d\u75c7\u306f\u3001\u4e3b\u306bPDHA1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308bX\u9023\u9396\u6027\u907a\u4f1d\u75be\u60a3\u3068\u3057\u3066\u767a\u75c7\u3059\u308b\u304c\u3001PDHB\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308b\u75c7\u4f8b\u306f\u975e\u5e38\u306b\u7a00\u3067\u3042\u308b\u3002\u904e\u53bb\u306e\u5831\u544a\u3067\u306f\u30011970\u5e74\u304b\u30892014\u5e74\u306e\u9593\u306b\u5831\u544a\u3055\u308c\u305fPDHc\u6b20\u640d\u75c7\u306e\u3046\u3061\u3001PDHB\u5909\u7570\u304c\u95a2\u4e0e\u3059\u308b\u30b1\u30fc\u30b9\u306f\u5168\u4f53\u306e\u7d044\uff5e9%\u306b\u904e\u304e\u306a\u3044\u3002<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\u306b\u95a2\u4fc2\u306a\u304f\u767a\u75c7\u3057\u3001\u7279\u306b\u91cd\u7be4\u306a\u4ee3\u8b1d\u7570\u5e38\u3092\u4f34\u3046\u65b0\u751f\u5150\u671f\u767a\u75c7\u4f8b\u3067\u306f\u3001\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u304c\u8a8d\u3081\u3089\u308c\u308b\u3002\u4e00\u65b9\u3067\u3001\u767a\u75c7\u5e74\u9f62\u3084\u75c7\u72b6\u306e\u9032\u884c\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u8efd\u75c7\u4f8b\u3067\u306f\u5c0f\u5150\u671f\u4ee5\u964d\u306b\u9593\u6b20\u6027\u306e\u904b\u52d5\u5931\u8abf\u3084\u767a\u4f5c\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>PDHB\u907a\u4f1d\u5b50\u306f3\u756a\u67d3\u8272\u4f53\uff083p14.3\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u30d4\u30eb\u30d3\u30f3\u9178\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u8907\u5408\u4f53\u306eE1\u03b2\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u3092\u30b3\u30fc\u30c9\u3059\u308b\u3002\u3053\u306e\u9175\u7d20\u306f\u3001\u7cd6\u4ee3\u8b1d\u306e\u91cd\u8981\u306a\u7d4c\u8def\u3067\u3042\u308b\u30af\u30a8\u30f3\u9178\u56de\u8def\u306b\u304a\u3044\u3066\u3001\u30d4\u30eb\u30d3\u30f3\u9178\u3092\u30a2\u30bb\u30c1\u30ebCoA\u306b\u5909\u63db\u3059\u308b\u5f79\u5272\u3092\u62c5\u3046\u3002<\/p>\n\n\n\n<p>PDHB\u5909\u7570\u306b\u3088\u308bPDHc\u6b20\u640d\u75c7\u3067\u306f\u3001\u3053\u306e\u53cd\u5fdc\u304c\u963b\u5bb3\u3055\u308c\u3001\u30d4\u30eb\u30d3\u30f3\u9178\u304c\u4e73\u9178\u3078\u3068\u5909\u63db\u3055\u308c\u308b\u3053\u3068\u3067\u3001\u6162\u6027\u7684\u306a\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3092\u5f15\u304d\u8d77\u3053\u3059\u3002\u7279\u306b\u3001c.575G&gt;T\uff08p.Arg192Leu\uff09\u5909\u7570\u306f\u3001PDHB\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u69cb\u9020\u3092\u4e0d\u5b89\u5b9a\u5316\u3057\u3001\u9175\u7d20\u6d3b\u6027\u3092\u8457\u3057\u304f\u4f4e\u4e0b\u3055\u305b\u308b\u3053\u3068\u304cin vitro\u306e\u7814\u7a76\u3067\u78ba\u8a8d\u3055\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>PDHB\u95a2\u9023PDHc\u6b20\u640d\u75c7\u306e\u75c7\u72b6\u306f\u591a\u5c90\u306b\u308f\u305f\u308b\u304c\u3001\u4e3b\u306b\u4ee5\u4e0b\u306e\u7279\u5fb4\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u795e\u7d4c\u75c7\u72b6<\/strong>: \u767a\u9054\u9045\u6ede\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u75d9\u6523\u3001\u904b\u52d5\u5931\u8abf\u3001\u30b8\u30b9\u30c8\u30cb\u30a2<\/li>\n\n\n\n<li><strong>\u8133MRI\u7570\u5e38<\/strong>: \u8133\u6881\u5f62\u6210\u4e0d\u5168\u3001\u30e9\u30a4\u75c7\u5019\u7fa4\u69d8\u75c5\u5909\u3001\u8133\u5ba4\u62e1\u5927<\/li>\n\n\n\n<li><strong>\u773c\u75c7\u72b6<\/strong>: \u773c\u632f\u3001\u8996\u795e\u7d4c\u840e\u7e2e\u3001\u773c\u77bc\u4e0b\u5782\u3001\u659c\u8996<\/li>\n\n\n\n<li><strong>\u6210\u9577\u969c\u5bb3<\/strong>: \u80ce\u5185\u767a\u80b2\u9045\u5ef6\u3001\u5c0f\u982d\u75c7\u3001\u9577\u7ba1\u9aa8\u77ed\u7e2e\uff08\u7a00\uff09<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u75c7\u72b6<\/strong>: \u8efd\u75c7\u4f8b\u3067\u306f\u9752\u5e74\u671f\u4ee5\u964d\u306b\u5e7b\u899a\u3084\u5984\u60f3\u306a\u3069\u306e\u7cbe\u795e\u75c7\u72b6\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308b<\/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<p>\u8a3a\u65ad\u306f\u4ee5\u4e0b\u306e\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u3046\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u751f\u5316\u5b66\u691c\u67fb<\/strong>: \u8840\u4e2d\u4e73\u9178\u304a\u3088\u3073\u30d4\u30eb\u30d3\u30f3\u9178\u306e\u4e0a\u6607\u3001\u4e73\u9178\/\u30d4\u30eb\u30d3\u30f3\u9178\u6bd4\u306e\u6b63\u5e38\u7bc4\u56f2\uff0810\uff5e20\uff09<\/li>\n\n\n\n<li><strong>\u5c3f\u304a\u3088\u3073\u9ac4\u6db2\u5206\u6790<\/strong>: \u4e73\u9178\u304a\u3088\u3073\u30d4\u30eb\u30d3\u30f3\u9178\u306e\u4e0a\u6607<\/li>\n\n\n\n<li><strong>\u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a<\/strong>: PDHc\u6d3b\u6027\u306e\u4f4e\u4e0b\uff08\u7dda\u7dad\u82bd\u7d30\u80de\u3001\u30ea\u30f3\u30d1\u7403\u3001\u9aa8\u683c\u7b4b\uff09<\/li>\n\n\n\n<li><strong>\u8133MRI<\/strong>: \u8133\u6881\u5f62\u6210\u4e0d\u5168\u3001\u57fa\u5e95\u6838\u306e\u9ad8\u4fe1\u53f7\u75c5\u5909<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb<\/strong>: PDHB\u907a\u4f1d\u5b50\u306e\u5909\u7570\u89e3\u6790\uff08WES\u3084\u30bf\u30fc\u30b2\u30c3\u30c8\u30d1\u30cd\u30eb\u89e3\u6790\uff09<\/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<p>\u73fe\u5728\u3001PDHB\u95a2\u9023PDHc\u6b20\u640d\u75c7\u306e\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u3057\u306a\u3044\u304c\u3001\u4ee5\u4e0b\u306e\u5bfe\u75c7\u7642\u6cd5\u304c\u63a8\u5968\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30b1\u30c8\u30f3\u98df\u7642\u6cd5<\/strong>: \u9ad8\u8102\u80aa\u30fb\u4f4e\u70ad\u6c34\u5316\u7269\u98df\u3092\u63a8\u5968\uff08\u63a8\u5968\u6bd4\u73873:1\uff5e4:1\uff09<\/li>\n\n\n\n<li><strong>\u30d3\u30bf\u30df\u30f3\u7642\u6cd5<\/strong>: \u30c1\u30a2\u30df\u30f3\uff08\u30d3\u30bf\u30df\u30f3B1\uff09\u306e\u88dc\u5145\uff08300\uff5e1000mg\/\u65e5\uff09<\/li>\n\n\n\n<li><strong>\u5bfe\u75c7\u7642\u6cd5<\/strong>: \u3051\u3044\u308c\u3093\u7ba1\u7406\uff08\u6297\u3066\u3093\u304b\u3093\u85ac\u3001\u30b1\u30c8\u30f3\u98df\uff09\u3001\u7b4b\u7dca\u5f35\u7570\u5e38\u306b\u5bfe\u3059\u308b\u30dc\u30c4\u30ea\u30cc\u30b9\u6bd2\u7d20\u6ce8\u5c04\u3001\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5<\/li>\n\n\n\n<li><strong>\u9178\u5869\u57fa\u5e73\u8861\u306e\u7ba1\u7406<\/strong>: \u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u306e\u88dc\u6b63\uff08\u91cd\u70ad\u9178\u30ca\u30c8\u30ea\u30a6\u30e0\u3001\u30af\u30a8\u30f3\u9178\uff09<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong>: \u5bb6\u65cf\u6b74\u306e\u8a55\u4fa1\u3068\u767a\u75c7\u30ea\u30b9\u30af\u306e\u7279\u5b9a<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>PDHB\u95a2\u9023PDHc\u6b20\u640d\u75c7\u306e\u4e88\u5f8c\u306f\u3001\u767a\u75c7\u6642\u671f\u3084\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308b\u3002\u65b0\u751f\u5150\u671f\u306b\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3092\u5448\u3059\u308b\u91cd\u75c7\u4f8b\u3067\u306f\u3001\u751f\u547d\u4e88\u5f8c\u304c\u4e0d\u826f\u3067\u3042\u308a\u3001\u65e9\u671f\u306e\u795e\u7d4c\u9000\u884c\u304c\u9032\u884c\u3059\u308b\u3002\u4e00\u65b9\u3067\u3001\u8efd\u75c7\u4f8b\u3067\u306f\u5c0f\u5150\u671f\u4ee5\u964d\u3082\u751f\u6d3b\u306e\u8cea\u3092\u7dad\u6301\u3067\u304d\u308b\u5834\u5408\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u30b1\u30c8\u30f3\u98df\u7642\u6cd5\u306f\u3001\u7279\u306b\u795e\u7d4c\u75c7\u72b6\u306e\u6539\u5584\u306b\u6709\u52b9\u3067\u3042\u308a\u3001\u65e9\u671f\u306e\u4ecb\u5165\u304c\u767a\u9054\u4e88\u5f8c\u3092\u5411\u4e0a\u3055\u305b\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002\u3057\u304b\u3057\u3001\u6cbb\u7642\u53cd\u5fdc\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u9577\u671f\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u3068\u591a\u8077\u7a2e\u30c1\u30fc\u30e0\u306b\u3088\u308b\u5305\u62ec\u7684\u306a\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u4f9d\u7136\u3068\u3057\u3066\u8a3a\u65ad\u30fb\u6cbb\u7642\u304c\u96e3\u3057\u304f\u3001\u4eca\u5f8c\u306e\u7814\u7a76\u306b\u3088\u308b\u65b0\u305f\u306a\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u304c\u671f\u5f85\u3055\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:\/\/www.ncbi.nlm.nih.gov\/books\/NBK571223\/\">Ganetzky R, McCormick EM, Falk MJ. Primary Pyruvate Dehydrogenase Complex Deficiency Overview. 2021 Jun 17. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK571223\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s13052-025-01917-9\">Li, Y., Cheng, L., Li, X. <em>et al.<\/em> A missense mutation in <em>PDHB<\/em> gene: identification of the patient with pyruvate dehydrogenase deficiency and demonstration of pathogenicity in vitro. <em>Ital J Pediatr<\/em> <strong>51<\/strong>, 66 (2025). https:\/\/doi.org\/10.1186\/s13052-025-01917-9<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.expneurol.2023.114368\">Jiang, C., Lu, Y., Zhu, R., Zong, Y., Huang, Y., Wang, D., Da, Z., Yu, B., Shen, L., &amp; Cao, Q. (2023). Pyruvate dehydrogenase beta subunit (Pdhb) promotes peripheral axon regeneration by regulating energy supply and gene expression. <em>Experimental Neurology<\/em>, <em>363<\/em>, 114368. https:\/\/doi.org\/10.1016\/j.expneurol.2023.114368<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/jimd.12463\">Savvidou, A., Ivarsson, L., Naess, K., Eklund, E. A., Lundgren, J., Dahlin, M., Frithiof, D., Sofou, K., &amp; Darin, N. (2022). Novel imaging findings in pyruvate dehydrogenase complex (pdhc) deficiency\u2014Results from a nationwide population\u2010based study. <em>Journal of Inherited Metabolic Disease<\/em>, <em>45<\/em>(2), 248\u2013263. https:\/\/doi.org\/10.1002\/jimd.12463<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/pd.6349\">Tanner, L. M., Tynninen, O., Piippo, K., &amp; Puhakka, A. M. (2023). X\u2010linked pyruvate dehydrogenase complex deficiency due to a novel PDHA1 variant associated with structural brain abnormalities in a fetus. <em>Prenatal Diagnosis<\/em>, <em>43<\/em>(6), 730\u2013733. https:\/\/doi.org\/10.1002\/pd.6349<\/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>PDHB, \u30d4\u30eb\u30d3\u30f3\u9178\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7, PDHc\u6b20\u640d\u75c7, \u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9, \u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75be\u60a3, PDHA1, \u30b1\u30c8\u30f3\u98df\u7642\u6cd5, \u30c1\u30a2\u30df\u30f3\u88dc\u5145, \u907a\u4f1d\u5b50\u5909\u7570, \u4ee3\u8b1d\u7570\u5e38, \u795e\u7d4c\u767a\u9054\u9045\u6ede, \u30e9\u30a4\u75c7\u5019\u7fa4<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":35,"template":"page_gd.php","class_list":["post-33642","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\/33642","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":9,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33642\/revisions"}],"predecessor-version":[{"id":127733,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33642\/revisions\/127733"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33642"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}