{"id":136676,"date":"2026-09-08T12:23:04","date_gmt":"2026-09-08T03:23:04","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=136676"},"modified":"2026-09-08T12:23:04","modified_gmt":"2026-09-08T03:23:04","slug":"pyruvate-kinase-deficiency-pklr","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pyruvate-kinase-deficiency-pklr\/","title":{"rendered":"\u30d4\u30eb\u30d3\u30f3\u9178\u30ad\u30ca\u30fc\u30bc\u6b20\u640d\u75c7"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n\n<p>\u30d4\u30eb\u30d3\u30f3\u9178\u30ad\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\u306f\u3001\u8d64\u8840\u7403\u304c\u30a8\u30cd\u30eb\u30ae\u30fc\u3092\u4f5c\u308b\u305f\u3081\u306e\u3057\u304f\u307f\u304c\u3046\u307e\u304f\u306f\u305f\u3089\u304b\u305a\u3001\u8d64\u8840\u7403\u304c\u65e9\u304f\u58ca\u308c\u3066\u3057\u307e\u3046\uff08\u6eb6\u8840\u6027\u8ca7\u8840\uff09\u75c5\u6c17\u3067\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001<strong>PKLR<\/strong> \u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5148\u5929\u6027\u306e\u6eb6\u8840\u6027\u8ca7\u8840\u306e\u306a\u304b\u3067\u306f\u3001<strong>\u8d64\u8840\u7403\u9175\u7d20\u7570\u5e38\u3068\u3057\u3066\u306f\u3082\u3063\u3068\u3082\u591a\u3044<\/strong>\u75c5\u6c17\u3067\u3059\u3002\u75c7\u72b6\u306e\u91cd\u3055\u306b\u306f\u5927\u304d\u306a\u5e45\u304c\u3042\u308a\u3001\u8f38\u8840\u304c\u5fc5\u8981\u306a\u65b9\u304b\u3089\u3001\u5065\u5eb7\u8a3a\u65ad\u3067\u5076\u7136\u898b\u3064\u304b\u308b\u65b9\u307e\u3067\u3055\u307e\u3056\u307e\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n\n<p><strong>PKLR<\/strong> \u907a\u4f1d\u5b50\u306f\u3001\u8d64\u8840\u7403\u3068\u809d\u81d3\u3067\u306f\u305f\u3089\u304f\u30d4\u30eb\u30d3\u30f3\u9178\u30ad\u30ca\u30fc\u30bc\u3068\u3044\u3046\u9175\u7d20\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u3053\u306e\u9175\u7d20\u306f\u3001\u7cd6\u3092\u5206\u89e3\u3057\u3066\u30a8\u30cd\u30eb\u30ae\u30fc\uff08ATP\uff09\u3092\u4f5c\u308b\u89e3\u7cd6\u7cfb\u306e\u6700\u5f8c\u306e\u6bb5\u968e\u3092\u62c5\u5f53\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8d64\u8840\u7403\u306b\u306f\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u304c\u306a\u3044\u305f\u3081\u3001\u89e3\u7cd6\u7cfb\u3060\u3051\u304c\u30a8\u30cd\u30eb\u30ae\u30fc\u6e90\u3067\u3059\u3002\u9175\u7d20\u304c\u306f\u305f\u3089\u304b\u306a\u3044\u3068ATP\u304c\u4e0d\u8db3\u3057\u3001\u8d64\u8840\u7403\u304c\u5f62\u3092\u4fdd\u3066\u306a\u304f\u306a\u3063\u3066\u813e\u81d3\u3067\u58ca\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8ca7\u8840<\/strong>\uff08\u9854\u8272\u304c\u60aa\u3044\u3001\u3060\u308b\u3044\u3001\u52d5\u60b8\u3001\u606f\u5207\u308c\uff09<\/li>\n\n\n\n<li><strong>\u9ec4\u75b8<\/strong>\uff08\u76ae\u819a\u3084\u767d\u76ee\u304c\u9ec4\u8272\u304f\u306a\u308b\uff09<\/li>\n\n\n\n<li>\u813e\u81d3\u304c\u5927\u304d\u304f\u306a\u308b<\/li>\n\n\n\n<li><strong>\u80c6\u77f3<\/strong>\uff08\u82e5\u3044\u3046\u3061\u304b\u3089\u3067\u304d\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff09<\/li>\n\n\n\n<li>\u65b0\u751f\u5150\u671f\u306e\u91cd\u3044\u9ec4\u75b8\uff08\u4ea4\u63db\u8f38\u8840\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308b\uff09<\/li>\n\n\n\n<li>\u611f\u67d3\u306a\u3069\u3092\u304d\u3063\u304b\u3051\u306b\u8ca7\u8840\u304c\u6025\u306b\u60aa\u5316\u3059\u308b\uff08\u7121\u5f62\u6210\u767a\u4f5c\uff09<\/li>\n\n\n\n<li>\u304f\u308a\u8fd4\u3059\u8f38\u8840\u306b\u3088\u308b<strong>\u9244\u904e\u5270\u75c7<\/strong>\uff08\u809d\u81d3\u30fb\u5fc3\u81d3\u30fb\u5185\u5206\u6ccc\u3078\u306e\u5f71\u97ff\uff09<\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n\n<p>\u6eb6\u8840\u6027\u8ca7\u8840\u306e\u6240\u898b\uff08\u7db2\u8d64\u8840\u7403\u306e\u5897\u52a0\u3001\u9593\u63a5\u30d3\u30ea\u30eb\u30d3\u30f3\u306e\u4e0a\u6607\u3001\u30cf\u30d7\u30c8\u30b0\u30ed\u30d3\u30f3\u306e\u4f4e\u4e0b\uff09\u306b\u52a0\u3048\u3001\u8d64\u8840\u7403\u306e\u30d4\u30eb\u30d3\u30f3\u9178\u30ad\u30ca\u30fc\u30bc\u6d3b\u6027\u3092\u6e2c\u5b9a\u3057\u3066\u8a3a\u65ad\u3057\u307e\u3059\u3002<strong>\u8f38\u8840\u306e\u76f4\u5f8c\u306f\u6b63\u5e38\u306a\u8d64\u8840\u7403\u304c\u6df7\u3056\u308b\u305f\u3081\u3001\u8f38\u8840\u524d\u307e\u305f\u306f\u8f38\u8840\u304b\u3089\u6642\u9593\u3092\u3042\u3051\u3066\u6e2c\u308a\u307e\u3059<\/strong>\u3002<strong>PKLR<\/strong> \u907a\u4f1d\u5b50\u306e\u89e3\u6790\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8449\u9178\u306e\u88dc\u5145<\/strong>\uff08\u8d64\u8840\u7403\u304c\u591a\u304f\u4f5c\u3089\u308c\u308b\u305f\u3081\u6d88\u8cbb\u3055\u308c\u307e\u3059\uff09<\/li>\n\n\n\n<li>\u8ca7\u8840\u304c\u5f37\u3044\u3068\u304d\u306e<strong>\u8f38\u8840<\/strong>\u3068\u3001\u8f38\u8840\u3092\u304f\u308a\u8fd4\u3059\u5834\u5408\u306e<strong>\u9244\u30ad\u30ec\u30fc\u30c8\u7642\u6cd5<\/strong><\/li>\n\n\n\n<li><strong>\u813e\u81d3\u306e\u6458\u51fa<\/strong>\uff1a\u8f38\u8840\u306e\u5fc5\u8981\u3092\u6e1b\u3089\u305b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08\u6458\u51fa\u5f8c\u306f\u611f\u67d3\u75c7\u306e\u30ea\u30b9\u30af\u304c\u4e0a\u304c\u308b\u305f\u3081\u3001\u30ef\u30af\u30c1\u30f3\u63a5\u7a2e\u304c\u5fc5\u8981\u3067\u3059\uff09<\/li>\n\n\n\n<li><strong>\u30df\u30bf\u30d4\u30d0\u30c3\u30c8<\/strong>\uff1a\u30d4\u30eb\u30d3\u30f3\u9178\u30ad\u30ca\u30fc\u30bc\u3092\u6d3b\u6027\u5316\u3059\u308b\u98f2\u307f\u85ac\u3002\u6d77\u5916\u3067\u627f\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\uff08\u56fd\u5185\u3067\u306e\u4f7f\u7528\u306b\u3064\u3044\u3066\u306f\u62c5\u5f53\u306e\u5148\u751f\u306b\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\uff09<\/li>\n\n\n\n<li>\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\uff08\u91cd\u75c7\u4f8b\uff09<\/li>\n\n\n\n<li>\u80c6\u77f3\u306b\u5bfe\u3059\u308b\u80c6\u56a2\u6458\u51fa<\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>PKLR<\/strong> \u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u767a\u75c7\u524d\u3084\u51fa\u751f\u524d\u306b\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u6b21\u306e2\u3064\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09<\/h3>\n\n\n\n<p>\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u306b\u3042\u305f\u308b\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u307e\u3068\u3081\u3066\u8aad\u307f\u53d6\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u89e3\u6790\u3092\u884c\u3063\u305f\u3046\u3048\u3067\u3001<strong>PKLR<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u3080<strong>1,200\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u306b\u8abf\u3079\u3001<strong>\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059<\/strong>\u3002\u56fd\u5185\u306e\u691c\u67fb\u6240\u3067\u884c\u3044\u3001\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f5\u9031\u9593\u301c7\u9031\u9593\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\uff08228\u7a2e\u985e\uff09<\/h3>\n\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306f\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u304a\u5b50\u3055\u307e\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u3067\u306f\u3001\u3054\u592b\u5a66\u304c\u3053\u306e\u75be\u60a3\u306e\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u982c\u306e\u5185\u5074\u306e\u7c98\u819c\u304b\u3089\u8abf\u3079\u3001<strong>\u304a\u5b50\u3055\u307e\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u53ef\u80fd\u6027\u3092\u3001\u598a\u5a20\u524d\u3084\u51fa\u751f\u524d\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059<\/strong>\u3002<\/p>\n\n\n\n<p>\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/autosomal-recessive-inheritance\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8228<\/a> \u306e\u30da\u30fc\u30b8\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n\n<p>\u30d4\u30eb\u30d3\u30f3\u9178\u30ad\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\u306f <strong>PKLR<\/strong>\uff081q22\uff09\u306e\u4e21\u30a2\u30ec\u30eb\u5909\u7570\u306b\u3088\u308b\u3002PKLR\u306f\u8d64\u8840\u7403\u578b\uff08R-PK\uff09\u3068\u809d\u81d3\u578b\uff08L-PK\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3001\u89e3\u7cd6\u7cfb\u6700\u7d42\u6bb5\u968e\u306e\u30db\u30b9\u30db\u30a8\u30ce\u30fc\u30eb\u30d4\u30eb\u30d3\u30f3\u9178\u304b\u3089\u30d4\u30eb\u30d3\u30f3\u9178\u3078\u306e\u5909\u63db\u3068ATP\u7523\u751f\u3092\u62c5\u3046\u3002<\/p>\n\n\n\n<p>ATP\u67af\u6e07\u306b\u3088\u308a\u8d64\u8840\u7403\u819c\u306eNa+\/K+-ATPase\u304c\u6a5f\u80fd\u4e0d\u5168\u3068\u306a\u308a\u3001\u8131\u6c34\u3068\u5909\u5f62\u80fd\u4f4e\u4e0b\u3092\u304d\u305f\u3057\u3066\u813e\u81d3\u3067\u6355\u6349\u3055\u308c\u308b\uff08\u8840\u7ba1\u5916\u6eb6\u8840\uff09\u3002\u4e00\u65b9\u3067<strong>2,3-DPG\u304c\u4e0a\u6607\u3059\u308b\u305f\u3081\u30d8\u30e2\u30b0\u30ed\u30d3\u30f3\u9178\u7d20\u89e3\u96e2\u66f2\u7dda\u304c\u53f3\u65b9\u79fb\u52d5\u3057\u3001\u8ca7\u8840\u306e\u7a0b\u5ea6\u306e\u308f\u308a\u306b\u81ea\u899a\u75c7\u72b6\u304c\u8efd\u3044<\/strong>\u3053\u3068\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u6027\u975e\u7403\u72b6\u8d64\u8840\u7403\u6027\u6eb6\u8840\u6027\u8ca7\u8840\uff08HNSHA\uff09\u306e\u6700\u591a\u306e\u539f\u56e0\u3067\u3042\u308b\u3002\u8868\u73fe\u578b\u306f\u591a\u69d8\u3067\u3001\u80ce\u5150\u6c34\u816b\u304b\u3089\u4ee3\u511f\u6027\u6eb6\u8840\u307e\u3067\u5e45\u304c\u3042\u308b\u3002\u813e\u6458\u306f\u591a\u304f\u306e\u75c7\u4f8b\u3067\u8f38\u8840\u4f9d\u5b58\u3092\u8efd\u6e1b\u3059\u308b\u304c\u3001\u7121\u52b9\u4f8b\u3082\u3042\u308b\u3002<\/p>\n\n\n\n<p><strong>\u30df\u30bf\u30d4\u30d0\u30c3\u30c8\uff08mitapivat\uff09<\/strong>\u306fPK\u30a2\u30ed\u30b9\u30c6\u30ea\u30c3\u30af\u6d3b\u6027\u5316\u85ac\u3067\u3001ACTIVATE\u8a66\u9a13\u30fbACTIVATE-T\u8a66\u9a13\u306b\u3088\u308a\u8f38\u8840\u975e\u4f9d\u5b58\u4f8b\u306e\u30d8\u30e2\u30b0\u30ed\u30d3\u30f3\u4e0a\u6607\u3068\u8f38\u8840\u4f9d\u5b58\u4f8b\u306e\u8f38\u8840\u91cf\u6e1b\u5c11\u304c\u793a\u3055\u308c\u30012022\u5e74\u306b\u7c73\u56fd\u3067\u627f\u8a8d\u3055\u308c\u305f\u3002\u907a\u4f1d\u5b50\u6cbb\u7642\u306e\u81e8\u5e8a\u8a66\u9a13\u3082\u9032\u884c\u4e2d\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u8f38\u8840\u306f\u5fc5\u305a\u5fc5\u8981\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u75c7\u72b6\u306e\u91cd\u3055\u306b\u3088\u308a\u307e\u3059\u3002\u8f38\u8840\u3092\u5fc5\u8981\u3068\u3057\u306a\u3044\u65b9\u304b\u3089\u3001\u5b9a\u671f\u7684\u306a\u8f38\u8840\u304c\u5fc5\u8981\u306a\u65b9\u307e\u3067\u3055\u307e\u3056\u307e\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u813e\u81d3\u3092\u6458\u51fa\u3059\u308b\u3068\u6cbb\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u6eb6\u8840\u304c\u6e1b\u308a\u3001\u8f38\u8840\u306e\u5fc5\u8981\u304c\u5c11\u306a\u304f\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u306e\u3067\u3059\u304c\u3001\u5b8c\u5168\u306b\u6cbb\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6458\u51fa\u5f8c\u306f\u611f\u67d3\u75c7\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3001\u4e8b\u524d\u306e\u30ef\u30af\u30c1\u30f3\u63a5\u7a2e\u304c\u5fc5\u9808\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u80c6\u77f3\u304c\u3067\u304d\u3084\u3059\u3044\u3068\u805e\u304d\u307e\u3057\u305f\u3002<\/h3>\n\n\n\n<p>A. \u306f\u3044\u3002\u58ca\u308c\u305f\u8d64\u8840\u7403\u304b\u3089\u30d3\u30ea\u30eb\u30d3\u30f3\u304c\u591a\u304f\u4f5c\u3089\u308c\u308b\u305f\u3081\u3001\u82e5\u3044\u3046\u3061\u304b\u3089\u80c6\u77f3\u304c\u3067\u304d\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u8179\u75db\u304c\u3042\u308c\u3070\u53d7\u8a3a\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u65b0\u3057\u3044\u98f2\u307f\u85ac\u304c\u3042\u308b\u3068\u805e\u304d\u307e\u3057\u305f\u3002<\/h3>\n\n\n\n<p>A. \u30df\u30bf\u30d4\u30d0\u30c3\u30c8\u3068\u3044\u3046\u9175\u7d20\u3092\u6d3b\u6027\u5316\u3059\u308b\u85ac\u304c\u6d77\u5916\u3067\u627f\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u56fd\u5185\u3067\u306e\u4f7f\u7528\u306b\u3064\u3044\u3066\u306f\u62c5\u5f53\u306e\u5148\u751f\u306b\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u8ca7\u8840\u306e\u308f\u308a\u306b\u5143\u6c17\u3060\u3068\u8a00\u308f\u308c\u307e\u3059\u3002<\/h3>\n\n\n\n<p>A. \u3053\u306e\u75c5\u6c17\u3067\u306f\u3001\u8d64\u8840\u7403\u304c\u9178\u7d20\u3092\u7d44\u7e54\u306b\u6e21\u3057\u3084\u3059\u304f\u306a\u308b\u5909\u5316\u304c\u8d77\u3053\u308b\u305f\u3081\u3001\u30d8\u30e2\u30b0\u30ed\u30d3\u30f3\u306e\u5024\u306e\u308f\u308a\u306b\u75c7\u72b6\u304c\u8efd\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Kanno H, Fujii H, Hirono A, Miwa S. cDNA cloning of human R-type pyruvate kinase and identification of a single amino acid substitution (Thr384 to Met) affecting enzymatic stability in a pyruvate kinase variant (PK Tokyo) associated with hereditary hemolytic anemia. <em>Proc Natl Acad Sci U S A<\/em>. 1991;88(18):8218-8221.<\/li>\n\n\n\n<li>Grace RF, Bianchi P, van Beers EJ, et al. Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. <em>Blood<\/em>. 2018;131(20):2183-2192.<\/li>\n\n\n\n<li>Al-Samkari H, Galact\u00e9ros F, Glenth\u00f8j A, et al. Mitapivat versus Placebo for Pyruvate Kinase Deficiency. <em>N Engl J Med<\/em>. 2022;386(15):1432-1442.<\/li>\n\n\n\n<li>Bianchi P, Fermo E, Glader B, et al. Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency. <em>Am J Hematol<\/em>. 2019;94(1):149-161.<\/li>\n\n\n\n<li>OMIM #266200 Pyruvate kinase deficiency<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136676","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\/136676","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":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136676\/revisions"}],"predecessor-version":[{"id":137046,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136676\/revisions\/137046"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136676"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}