{"id":33702,"date":"2022-07-12T09:14:03","date_gmt":"2022-07-12T00:14:03","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33702"},"modified":"2026-04-28T13:40:11","modified_gmt":"2026-04-28T04:40:11","slug":"glycogen-storage-disease-type-7","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycogen-storage-disease-type-7\/","title":{"rendered":"\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u8caf\u8535\u75c5VII\u578b\uff08GSD VII\uff09"},"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>\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u8caf\u8535\u75c5VII\u578b\uff08GSD VII\uff09\u3001\u5225\u540d\u30bf\u30eb\u30a4\u75c5\u306f\u3001\u7b4b\u578b\u30db\u30b9\u30db\u30d5\u30eb\u30af\u30c8\u30ad\u30ca\u30fc\u30bc\uff08PFKM\uff09\u306e\u6b20\u640d\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u307e\u308c\u306a\u4ee3\u8b1d\u75be\u60a3\u3067\u3059\u3002\u904b\u52d5\u4e0d\u8010\u6027\u3001\u7b4b\u75d9\u6523\u3001\u30df\u30aa\u30b0\u30ed\u30d3\u30f3\u5c3f\u3001\u4ee3\u511f\u6027\u6eb6\u8840\u306a\u3069\u306e\u75c7\u72b6\u304c\u307f\u3089\u308c\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u75c5\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u7ba1\u7406\u306b\u3064\u3044\u3066\u308f\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>PFKM\uff5cGlycogen Storage Disease, Type 7<\/p>\n\n\n\n<p><sup>Glycogen Storage Disease \u2176; Tarui Disease; Muscle Phosphofructokinase Deficiency; Phosphofructokinase Myopathy<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u8caf\u8535\u75c5VII\u578b\uff08GSD VII\uff09\u3001\u5225\u540d\u30bf\u30eb\u30a4\u75c5\uff08Tarui\u75c5\uff09\u306f\u3001<strong>\u7b4b\u578b\u30db\u30b9\u30db\u30d5\u30eb\u30af\u30c8\u30ad\u30ca\u30fc\u30bc\uff08PFK\uff09\u9175\u7d20\u306e\u6b20\u640d\u306b\u3088\u308a\u751f\u3058\u308b\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u6027\u4ee3\u8b1d\u75be\u60a3<\/strong>\u3067\u3042\u308b\u3002\u672c\u75be\u60a3\u306f\u7b4b\u8089\u7d30\u80de\u5185\u3067\u306e\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u306e\u5206\u89e3\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u30a8\u30cd\u30eb\u30ae\u30fc\u7523\u751f\u306e\u4f4e\u4e0b\u3092\u3082\u305f\u3089\u3059\u3002\u4e3b\u306a\u81e8\u5e8a\u75c7\u72b6\u306b\u306f<strong>\u904b\u52d5\u4e0d\u8010\u6027\u3001\u7b4b\u75d9\u6523\u3001\u52aa\u529b\u6027\u30df\u30aa\u30d1\u30c1\u30fc\u3001\u4ee3\u511f\u6027\u6eb6\u8840<\/strong>\u304c\u542b\u307e\u308c\u308b\u3002\u75c5\u578b\u306f\u5927\u304d\u304f<strong>4\u3064\u306e\u81e8\u5e8a\u578b<\/strong>\u306b\u5206\u985e\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<ol start=\"1\" class=\"wp-block-list\">\n<li><strong>\u53e4\u5178\u578b<\/strong>\uff08\u5c0f\u5150\u671f\u767a\u75c7\uff09\uff1a\u904b\u52d5\u5f8c\u306e\u7b4b\u75db\u3001\u75d9\u6523\u3001\u30df\u30aa\u30b0\u30ed\u30d3\u30f3\u5c3f\u3092\u7279\u5fb4\u3068\u3059\u308b\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u75c7\u4e73\u5150\u578b<\/strong>\uff08\u4e73\u5150\u671f\u767a\u75c7\uff09\uff1a\u4f4e\u7dca\u5f35\u3001\u9032\u884c\u6027\u7b4b\u75c7\u3001\u5fc3\u7b4b\u75c7\u3001\u547c\u5438\u969c\u5bb3\u3092\u5448\u3057\u3001\u591a\u304f\u306f1\u6b73\u672a\u6e80\u3067\u81f4\u6b7b\u7684\u3068\u306a\u308b\u3002<\/li>\n\n\n\n<li><strong>\u9045\u767a\u578b<\/strong>\uff08\u6210\u4eba\u767a\u75c7\uff09\uff1a\u4e3b\u306b\u8fd1\u4f4d\u7b4b\u306e\u7b4b\u529b\u4f4e\u4e0b\u304c\u7279\u5fb4\u3067\u3042\u308a\u3001\u904b\u52d5\u8a98\u767a\u6027\u306e\u7b4b\u75c7\u72b6\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308b\u3002<\/li>\n\n\n\n<li><strong>\u6eb6\u8840\u578b<\/strong>\uff08\u7b4b\u75c7\u72b6\u3092\u4f34\u308f\u306a\u3044\uff09\uff1a\u6eb6\u8840\u6027\u8ca7\u8840\u304c\u4e3b\u5fb4\u3067\u3042\u308a\u3001\u7b4b\u95a2\u9023\u306e\u75c7\u72b6\u306f\u8a8d\u3081\u3089\u308c\u306a\u3044\u3002<\/li>\n<\/ol>\n\n\n\n<p>\u672c\u75be\u60a3\u306f<strong>PFKM\u907a\u4f1d\u5b50\uff0812q13\uff09<\/strong><strong>\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3002\u73fe\u5728\u307e\u3067\u306b<\/strong><strong>27\u7a2e\u985e\u306e\u75c5\u7684\u5909\u7570<\/strong>\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u30a2\u30b7\u30e5\u30b1\u30ca\u30fc\u30b8\u7cfb\u30e6\u30c0\u30e4\u4eba\u3001\u65e5\u672c\u4eba\u3001\u304a\u3088\u3073\u30e8\u30fc\u30ed\u30c3\u30d1\u7cfb\u6c11\u65cf\u306b\u591a\u3044\u3068\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>GSD VII\u306f\u6975\u3081\u3066\u307e\u308c\u306a\u75be\u60a3\u3067\u3042\u308a\u3001<strong>\u63a8\u5b9a\u6709\u75c5\u7387\u306f100\u4e07\u5206\u306e1\u672a\u6e80<\/strong>\u3068\u3055\u308c\u308b\u3002\u4e16\u754c\u7684\u306b\u5831\u544a\u6570\u306f\u9650\u3089\u308c\u3066\u3044\u308b\u304c\u3001\u7279\u5b9a\u306e\u6c11\u65cf\u96c6\u56e3\u306b\u304a\u3044\u3066\u907a\u4f1d\u7684\u306a\u96c6\u7a4d\u304c\u8a8d\u3081\u3089\u308c\u308b\u3002\u7279\u306b\u30a2\u30b7\u30e5\u30b1\u30ca\u30fc\u30b8\u7cfb\u30e6\u30c0\u30e4\u4eba\u96c6\u56e3\u3067\u306f\u3001\u7279\u5b9a\u306e\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3059\u5909\u7570\u304c\u512a\u52e2\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>\u672c\u75be\u60a3\u306e\u539f\u56e0\u306f\u3001<strong>PFKM\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u7b4b\u578b\u30db\u30b9\u30db\u30d5\u30eb\u30af\u30c8\u30ad\u30ca\u30fc\u30bc\uff08PFK-M\uff09\u9175\u7d20\u306e\u6d3b\u6027\u4f4e\u4e0b\u307e\u305f\u306f\u6b20\u640d<\/strong>\u3067\u3042\u308b\u3002PFK\u306f\u89e3\u7cd6\u7cfb\u306e\u5f8b\u901f\u9175\u7d20\u3067\u3042\u308a\u3001<strong>\u30d5\u30eb\u30af\u30c8\u30fc\u30b9-6-\u30ea\u30f3\u9178\u3092\u30d5\u30eb\u30af\u30c8\u30fc\u30b9-1,6-\u30d3\u30b9\u30ea\u30f3\u9178\u306b\u5909\u63db<\/strong>\u3059\u308b\u5f79\u5272\u3092\u62c5\u3046\u3002<\/p>\n\n\n\n<p>PFK\u306b\u306f3\u3064\u306e\u30a2\u30a4\u30bd\u30d5\u30a9\u30fc\u30e0\uff08M\u578b\u3001L\u578b\u3001P\u578b\uff09\u304c\u5b58\u5728\u3057\u3001\u305d\u308c\u305e\u308c\u7b4b\u8089\uff08M\u578b\uff09\u3001\u809d\u81d3\uff08L\u578b\uff09\u3001\u8840\u5c0f\u677f\uff08P\u578b\uff09\u306b\u5206\u5e03\u3057\u3066\u3044\u308b\u3002GSD VII\u3067\u306f\u3001\u7b4b\u578bPFK\u304c\u6b20\u640d\u3059\u308b\u305f\u3081\u3001\u7b4b\u8089\u3067\u306e\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u5206\u89e3\u304c\u963b\u5bb3\u3055\u308c\u3001\u30a8\u30cd\u30eb\u30ae\u30fc\u7523\u751f\u304c\u4f4e\u4e0b\u3059\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><strong>1. \u53e4\u5178\u578b\uff08\u5c0f\u5150\u671f\u767a\u75c7\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u904b\u52d5\u5f8c\u306e\u7b4b\u75db\u3001\u7b4b\u75d9\u6523<\/li>\n\n\n\n<li>\u52aa\u529b\u6027\u30df\u30aa\u30d1\u30c1\u30fc<\/li>\n\n\n\n<li>\u30df\u30aa\u30b0\u30ed\u30d3\u30f3\u5c3f\uff08\u9577\u6642\u9593\u306e\u904b\u52d5\u5f8c\uff09<\/li>\n\n\n\n<li>\u9ad8\u5c3f\u9178\u8840\u75c7\u3001\u9ec4\u75b8\uff08\u30d3\u30ea\u30eb\u30d3\u30f3\u4e0a\u6607\uff09<\/li>\n\n\n\n<li>\u30af\u30ec\u30a2\u30c1\u30f3\u30ad\u30ca\u30fc\u30bc\uff08CK\uff09\u4e0a\u6607<\/li>\n<\/ul>\n\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p><strong>2. \u91cd\u75c7\u4e73\u5150\u578b<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4f4e\u7dca\u5f35\uff08\u4e73\u5150\u671f\u304b\u3089\uff09<\/li>\n\n\n\n<li>\u9032\u884c\u6027\u7b4b\u75c7<\/li>\n\n\n\n<li>\u5fc3\u7b4b\u75c7<\/li>\n\n\n\n<li>\u547c\u5438\u969c\u5bb3<\/li>\n<\/ul>\n\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p><strong>3. \u9045\u767a\u578b\uff08\u6210\u4eba\u671f\u767a\u75c7\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8fd1\u4f4d\u7b4b\u512a\u4f4d\u306e\u7b4b\u529b\u4f4e\u4e0b<\/li>\n\n\n\n<li>\u8efd\u5ea6\u306e\u904b\u52d5\u4e0d\u8010\u6027<\/li>\n<\/ul>\n\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p><strong>4. \u6eb6\u8840\u578b<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6eb6\u8840\u6027\u8ca7\u8840\uff08\u7b4b\u75c7\u72b6\u306a\u3057\uff09<\/li>\n\n\n\n<li>\u8d64\u8840\u7403\u306e\u65e9\u671f\u7834\u58ca\uff08\u4ee3\u511f\u6027\u6eb6\u8840\uff09<\/li>\n<\/ul>\n\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<ul start=\"1\" class=\"wp-block-list\">\n<li><strong>\u8840\u6db2\u691c\u67fb<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30af\u30ec\u30a2\u30c1\u30f3\u30ad\u30ca\u30fc\u30bc\uff08CK\uff09\u4e0a\u6607<\/li>\n\n\n\n<li>\u30d3\u30ea\u30eb\u30d3\u30f3\u4e0a\u6607\uff08\u9ec4\u75b8\uff09<\/li>\n\n\n\n<li>\u9ad8\u5c3f\u9178\u8840\u75c7<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<ul start=\"1\" class=\"wp-block-list\">\n<li><strong>\u7b4b\u751f\u691c<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u7d44\u7e54\u5185\u306e\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u84c4\u7a4d<\/li>\n\n\n\n<li>PFK\u6d3b\u6027\u306e\u4f4e\u4e0b<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<ul start=\"1\" class=\"wp-block-list\">\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb<\/strong>\n<ul class=\"wp-block-list\">\n<li>PFKM\u907a\u4f1d\u5b50\u306e\u5909\u7570\u89e3\u6790<\/li>\n\n\n\n<li>\u65e2\u77e5\u306e\u75c5\u7684\u5909\u7570\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<ul start=\"1\" class=\"wp-block-list\">\n<li><strong>\u904b\u52d5\u8ca0\u8377\u8a66\u9a13<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30a2\u30a4\u30bd\u30c8\u30fc\u30d7\u691c\u67fb\u306b\u3088\u308a\u7b4b\u5185\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u5206\u89e3\u306e\u7570\u5e38\u3092\u78ba\u8a8d<\/li>\n\n\n\n<li><strong>\u865a\u8840\u904b\u52d5\u8a66\u9a13<\/strong>\u3067\u9759\u8108\u4e73\u9178\u5024\u306e\u4e0a\u6607\u304c\u898b\u3089\u308c\u306a\u3044\uff08GSD V\u3068\u7570\u306a\u308b\uff09<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p><strong>1. \u904b\u52d5\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77ed\u6642\u9593\u306e\u9ad8\u5f37\u5ea6\u904b\u52d5\u3092\u907f\u3051\u308b<\/strong>\uff08\u7279\u306b\u7121\u9178\u7d20\u904b\u52d5\uff09<\/li>\n\n\n\n<li><strong>\u4f4e\u5f37\u5ea6\u306e\u6301\u7d9a\u7684\u904b\u52d5<\/strong>\uff08\u30a6\u30a9\u30fc\u30ad\u30f3\u30b0\u3001\u8efd\u3044\u30b9\u30c8\u30ec\u30c3\u30c1\uff09\u3092\u63a8\u5968<\/li>\n\n\n\n<li><strong>\u7cd6\u8cea\u6442\u53d6\u306b\u3088\u308b\u30a8\u30cd\u30eb\u30ae\u30fc\u88dc\u7d66\u306f\u9006\u52b9\u679c<\/strong>\uff08\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u304a\u3088\u3073\u8840\u7cd6\u306e\u5229\u7528\u304c\u59a8\u3052\u3089\u308c\u308b\u305f\u3081\uff09<\/li>\n<\/ul>\n\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p><strong>2. \u6804\u990a\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9ad8\u30bf\u30f3\u30d1\u30af\u98df<\/strong>\u304c\u6709\u7528\u306a\u53ef\u80fd\u6027\uff08\u5341\u5206\u306a\u30a8\u30d3\u30c7\u30f3\u30b9\u306f\u306a\u3044\u304c\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u4ee3\u8b1d\u306e\u4ee3\u66ff\u30a8\u30cd\u30eb\u30ae\u30fc\u6e90\u3068\u3057\u3066\u306e\u6d3b\u7528\uff09<\/li>\n\n\n\n<li><strong>\u8102\u8cea\u5229\u7528\u4fc3\u9032<\/strong>\u3092\u8003\u616e\uff08\u4e2d\u9396\u8102\u80aa\u9178\u306e\u6442\u53d6\u306a\u3069\uff09<\/li>\n\n\n\n<li><strong>\u8131\u6c34\u4e88\u9632<\/strong>\uff08\u6c34\u5206\u88dc\u7d66\u3092\u3053\u307e\u3081\u306b\u884c\u3044\u3001\u30df\u30aa\u30b0\u30ed\u30d3\u30f3\u5c3f\u306b\u3088\u308b\u814e\u969c\u5bb3\u3092\u9632\u3050\uff09<\/li>\n<\/ul>\n\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p><strong>3. \u85ac\u7269\u7642\u6cd5<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u93ae\u75db\u5264\uff08\u30a2\u30bb\u30c8\u30a2\u30df\u30ce\u30d5\u30a7\u30f3\uff09<\/strong>\uff1a\u8efd\u5ea6\u306e\u7b4b\u75db\u7de9\u548c<\/li>\n\n\n\n<li><strong>\u6297\u9ad8\u5c3f\u9178\u8840\u75c7\u85ac<\/strong>\uff08\u30a2\u30ed\u30d7\u30ea\u30ce\u30fc\u30eb\u306a\u3069\uff09\uff1a\u9ad8\u5c3f\u9178\u8840\u75c7\u3092\u4f34\u3046\u5834\u5408<\/li>\n<\/ul>\n\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p><strong>4. \u4e88\u9632\u7b56<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u75b2\u52b4\u306e\u30b5\u30a4\u30f3\uff08\u75d9\u6523\u3001\u75db\u307f\uff09\u3092\u898b\u6975\u3081\u3066\u9069\u5207\u306b\u904b\u52d5\u91cf\u3092\u8abf\u6574<\/li>\n\n\n\n<li>\u5b9a\u671f\u7684\u306a\u814e\u6a5f\u80fd\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\uff08\u30df\u30aa\u30b0\u30ed\u30d3\u30f3\u5c3f\u306b\u3088\u308b\u814e\u969c\u5bb3\u30ea\u30b9\u30af\uff09<\/li>\n<\/ul>\n\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>GSD VII\u306e<strong>\u4e88\u5f8c\u306f\u75c5\u578b\u306b\u3088\u308a\u7570\u306a\u308b<\/strong>\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u53e4\u5178\u578b<\/strong>\uff1a\u904b\u52d5\u5236\u9650\u3092\u9069\u5207\u306b\u884c\u3048\u3070\u3001<strong>\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u306f\u7dad\u6301\u53ef\u80fd<\/strong><\/li>\n\n\n\n<li><strong>\u91cd\u75c7\u4e73\u5150\u578b<\/strong>\uff1a\u9032\u884c\u6027\u306e\u7b4b\u75c7\u30fb\u5fc3\u7b4b\u75c7\u306b\u3088\u308a<strong>1\u6b73\u672a\u6e80\u3067\u306e\u81f4\u6b7b\u7387\u304c\u9ad8\u3044<\/strong><\/li>\n\n\n\n<li><strong>\u9045\u767a\u578b<\/strong>\uff1a\u9032\u884c\u306f\u6bd4\u8f03\u7684\u7de9\u3084\u304b\u3067\u3042\u308a\u3001<strong>\u65e5\u5e38\u751f\u6d3b\u306e\u8abf\u6574\u3067\u9069\u5fdc\u53ef\u80fd<\/strong><\/li>\n\n\n\n<li><strong>\u6eb6\u8840\u578b<\/strong>\uff1a\u7b4b\u75c7\u72b6\u304c\u306a\u3044\u305f\u3081\u3001<strong>\u751f\u547d\u4e88\u5f8c\u306f\u826f\u597d<\/strong><\/li>\n<\/ul>\n\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u73fe\u5728\u306e\u3068\u3053\u308d<strong>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u306a\u304f<\/strong>\u3001\u75c7\u72b6\u7ba1\u7406\u304c\u4e2d\u5fc3\u3068\u306a\u308b\u3002\u3057\u304b\u3057\u3001<strong>\u907a\u4f1d\u5b50\u6cbb\u7642\u306e\u7814\u7a76\u304c\u9032\u884c\u4e2d<\/strong>\u3067\u3042\u308a\u3001\u5c06\u6765\u7684\u306a\u6cbb\u7642\u306e\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\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:\/\/doi.org\/10.3748\/wjg.v29.i25.3932\">G\u00fcm\u00fc\u015f, E., &amp; \u00d6zen, H. (2023). Glycogen storage diseases: An update. <em>World journal of gastroenterology<\/em>, <em>29<\/em>(25), 3932\u20133963. https:\/\/doi.org\/10.3748\/wjg.v29.i25.3932<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1006\/geno.1996.0250\">Howard, T. D., Akots, G., &amp; Bowden, D. W. (1996). Physical and genetic mapping of the muscle phosphofructokinase gene (PFKM): reassignment to human chromosome 12q. <em>Genomics<\/em>, <em>34<\/em>(1), 122\u2013127. https:\/\/doi.org\/10.1006\/geno.1996.0250<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.nmd.2021.10.006\">Lucia, A., Martinuzzi, A., Nogales-Gadea, G., Quinlivan, R., Reason, S., Bali, D., Godfrey, R., Haller, R., Kishnani, P., Lafor\u00eat, P., L\u00f8kken, N., Musumeci, O., Santalla, A., Tarnopolsky, M., Toscano, A., Vissing, J., Voermans, N., &amp; Wakelin, A. (2021). Clinical practice guidelines for glycogen storage disease V &amp; VII (McArdle disease and Tarui disease) from an international study group. <em>Neuromuscular Disorders<\/em>, <em>31<\/em>(12), 1296\u20131310. https:\/\/doi.org\/10.1016\/j.nmd.2021.10.006<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fendo.2022.992827\">Liu, T., Wang, Y., Zhao, M., Jiang, J., Li, T., &amp; Zhang, M. (2022). Differential expression of aerobic oxidative metabolism-related proteins in diabetic urinary exosomes. <em>Frontiers in Endocrinology<\/em>, <em>13<\/em>, 992827. https:\/\/doi.org\/10.3389\/fendo.2022.992827<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/s41598-022-15743-0\">Zhou, M., Sun, X., Wang, C. <em>et al.<\/em> PFKM inhibits doxorubicin-induced cardiotoxicity by enhancing oxidative phosphorylation and glycolysis. <em>Sci Rep<\/em> <strong>12<\/strong>, 11684 (2022). https:\/\/doi.org\/10.1038\/s41598-022-15743-0<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fgene.2024.1422908\">Chen, Y., Wang, X., Ji, N., Fang, Q., Chang, X., &amp; Liu, M. (2024). Case report: Comprehensive exploration of a novel PFKM mutation in glycogen storage disease Type VII. <em>Frontiers in Genetics<\/em>, <em>15<\/em>, 1422908. https:\/\/doi.org\/10.3389\/fgene.2024.1422908<\/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>\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u8caf\u8535\u75c5VII\u578b, GSD VII, \u30bf\u30eb\u30a4\u75c5, PFKM, \u7b4b\u578b\u30db\u30b9\u30db\u30d5\u30eb\u30af\u30c8\u30ad\u30ca\u30fc\u30bc, \u904b\u52d5\u4e0d\u8010\u6027, \u30df\u30aa\u30b0\u30ed\u30d3\u30f3\u5c3f, \u4ee3\u511f\u6027\u6eb6\u8840, \u7b4b\u75d9\u6523, \u5e0c\u5c11\u75be\u60a3, \u907a\u4f1d\u5b50\u5909\u7570, \u7b4b\u75be\u60a3, \u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38, \u89e3\u7cd6\u7cfb\u969c\u5bb3<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":29,"template":"page_gd.php","class_list":["post-33702","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\/33702","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":16,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33702\/revisions"}],"predecessor-version":[{"id":127734,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33702\/revisions\/127734"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33702"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}