{"id":121994,"date":"2026-01-08T12:32:13","date_gmt":"2026-01-08T03:32:13","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=121994"},"modified":"2026-03-03T16:25:51","modified_gmt":"2026-03-03T07:25:51","slug":"glycogen-storage-disease-type-5-mcardle-disease-pygm","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/glycogen-storage-disease-type-5-mcardle-disease-pygm\/","title":{"rendered":"\u7cd6\u539f\u75c5V\u578b\uff08PYGM\u95a2\u9023\uff0fMcArdle\u75c5\uff09"},"content":{"rendered":"\n

\u6982\u8981<\/strong><\/h2>\n\n\n\n

\u7cd6\u539f\u75c5V\u578b\uff08McArdle\u75c5\uff09\u306f\u3001\u9aa8\u683c\u7b4b\u306b\u5b58\u5728\u3059\u308b\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u5206\u89e3\u9175\u7d20\u3067\u3042\u308b\u7b4b\u30db\u30b9\u30db\u30ea\u30e9\u30fc\u30bc\uff08myophosphorylase\uff09\u306e\u6b20\u640d\u306b\u3088\u308a\u767a\u75c7\u3059\u308b\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u3067\u3059\u3002\u904b\u52d5\u6642\u306b\u7b4b\u5185\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u3092\u30a8\u30cd\u30eb\u30ae\u30fc\u3068\u3057\u3066\u5229\u7528\u3067\u304d\u306a\u3044\u305f\u3081\u3001\u8efd\u5ea6\u306e\u904b\u52d5\u3067\u3082\u7b4b\u75db\u3001\u7b4b\u786c\u76f4\u3001\u6613\u75b2\u52b4\u611f\u3092\u5448\u3057\u307e\u3059\u3002\u7279\u5fb4\u7684\u306b\u300c\u30bb\u30ab\u30f3\u30c9\u30a6\u30a4\u30f3\u30c9\u73fe\u8c61\u300d\u3068\u547c\u3070\u308c\u308b\u3001\u904b\u52d5\u3092\u7d99\u7d9a\u3059\u308b\u3068\u75c7\u72b6\u304c\u8efd\u6e1b\u3059\u308b\u73fe\u8c61\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u75ab\u5b66<\/strong><\/h2>\n\n\n\n

\u7cd6\u539f\u75c5V\u578b\u306f\u7a00\u306a\u75be\u60a3\u3067\u3001\u6709\u75c5\u7387\u306f\u7d0410\u4e07\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6b27\u7c73\u3067\u306f\u6bd4\u8f03\u7684\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u65e5\u672c\u3067\u306f\u3055\u3089\u306b\u7a00\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002(PMC)<\/p>\n\n\n\n

\u539f\u56e0<\/strong><\/h2>\n\n\n\n

\u672c\u75be\u60a3\u306fPYGM\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002PYGM\u907a\u4f1d\u5b50\u306f\u30d2\u30c811\u756a\u67d3\u8272\u4f53\uff0811q13\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u9aa8\u683c\u7b4b\u7279\u7570\u7684\u306a\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u30db\u30b9\u30db\u30ea\u30e9\u30fc\u30bc\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002\u3053\u306e\u9175\u7d20\u304c\u6b20\u640d\u3059\u308b\u3068\u3001\u7b4b\u7d30\u80de\u5185\u306e\u30b0\u30ea\u30b3\u30fc\u30b2\u30f3\u304c\u5206\u89e3\u3055\u308c\u305a\u3001\u904b\u52d5\u6642\u306bATP\u7523\u751f\u304c\u3067\u304d\u306a\u304f\u306a\u308a\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u907a\u4f1d\u5f62\u5f0f\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3059\u3002(malacards.org)<\/p>\n\n\n\n

\u75c7\u72b6<\/strong><\/h2>\n\n\n\n

\u7cd6\u539f\u75c5V\u578b\u306f\u4e3b\u306b\u904b\u52d5\u6642\u306e\u7b4b\u75c7\u72b6\u3092\u5448\u3057\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u521d\u671f\u75c7\u72b6\uff08\u5c0f\u5150\u671f\u301c\u601d\u6625\u671f\uff09<\/strong><\/p>\n\n\n\n

    \n
  • \u904b\u52d5\u958b\u59cb\u76f4\u5f8c\u306e\u7b4b\u75db\u3001\u7b4b\u3053\u308f\u3070\u308a<\/li>\n\n\n\n
  • \u6613\u75b2\u52b4\u611f<\/li>\n\n\n\n
  • \u52d5\u4f5c\u306e\u7d99\u7d9a\u56f0\u96e3<\/li>\n<\/ul>\n\n\n\n

    \u9032\u884c\u4f8b\u30fb\u91cd\u75c7\u4f8b<\/strong><\/p>\n\n\n\n

      \n
    • \u7b4b\u3051\u3044\u308c\u3093<\/li>\n\n\n\n
    • \u6a2a\u7d0b\u7b4b\u878d\u89e3\u75c7<\/li>\n\n\n\n
    • \u904b\u52d5\u5f8c\u306e\u8910\u8272\u5c3f\uff08\u30df\u30aa\u30b0\u30ed\u30d3\u30f3\u5c3f\uff09<\/li>\n<\/ul>\n\n\n\n

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      \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n

      \u7cd6\u539f\u75c5V\u578b\u306e\u8a3a\u65ad\u306f\u4ee5\u4e0b\u306e\u7d44\u307f\u5408\u308f\u305b\u3067\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n

      1. \u81e8\u5e8a\u6240\u898b<\/strong><\/p>\n\n\n\n

        \n
      • \u904b\u52d5\u8a98\u767a\u6027\u7b4b\u75db\u30fb\u7b4b\u786c\u76f4<\/li>\n\n\n\n
      • \u30bb\u30ab\u30f3\u30c9\u30a6\u30a4\u30f3\u30c9\u73fe\u8c61<\/li>\n<\/ul>\n\n\n\n

        2. \u8840\u6db2\u691c\u67fb<\/strong><\/p>\n\n\n\n

          \n
        • CK\u9ad8\u5024\uff08\u5b89\u9759\u6642\u3067\u3082\u4e0a\u6607\u3059\u308b\u3053\u3068\u304c\u591a\u3044\uff09<\/li>\n<\/ul>\n\n\n\n

          3. \u904b\u52d5\u8ca0\u8377\u8a66\u9a13<\/strong><\/p>\n\n\n\n

            \n
          • \u4e73\u9178\u4e0a\u6607\u4e0d\u826f<\/li>\n<\/ul>\n\n\n\n

            4. \u907a\u4f1d\u5b50\u8a3a\u65ad<\/strong><\/p>\n\n\n\n

              \n
            • PYGM\u907a\u4f1d\u5b50\u89e3\u6790\u306b\u3088\u308b\u78ba\u5b9a\u8a3a\u65ad (PMC)<\/li>\n<\/ul>\n\n\n\n

              \u6cbb\u7642<\/strong><\/h2>\n\n\n\n

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                \n
              • \u904b\u52d5\u524d\u306e\u7cd6\u8cea\u6442\u53d6\uff08\u30b9\u30af\u30ed\u30fc\u30b9\u8ca0\u8377\u306a\u3069\uff09<\/li>\n\n\n\n
              • \u6fc0\u3057\u3044\u7121\u9178\u7d20\u904b\u52d5\u306e\u56de\u907f<\/li>\n\n\n\n
              • \u6709\u9178\u7d20\u904b\u52d5\u306e\u6bb5\u968e\u7684\u5c0e\u5165<\/li>\n\n\n\n
              • \u6a2a\u7d0b\u7b4b\u878d\u89e3\u75c7\u306e\u65e9\u671f\u5bfe\u5fdc<\/li>\n<\/ul>\n\n\n\n

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                \u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n

                \u7cd6\u539f\u75c5V\u578b\uff08McArdle\u75c5\uff09\u2014 \u907a\u4f1d\u5b50\u75be\u60a3\u89e3\u8aac\u30da\u30fc\u30b8\uff08\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\uff09\u3088\u308a\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)
                DiMauro S et al. Muscle glycogenoses: McArdle disease. Lancet Neurol. 2007.(Lancet)
                McArdle Disease \u2014 GeneReviews, PubMed Central.(PMC)
                Glycogen Storage Disease Type V \u2014 Malacards Rare Disease Database.(malacards.org)<\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-121994","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\/121994","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\/121994\/revisions"}],"predecessor-version":[{"id":125283,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/121994\/revisions\/125283"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121994"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}