{"id":122095,"date":"2026-01-08T17:21:47","date_gmt":"2026-01-08T08:21:47","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=122095"},"modified":"2026-03-03T12:54:25","modified_gmt":"2026-03-03T03:54:25","slug":"mucolipidosis-ii-iii-gnptab","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucolipidosis-ii-iii-gnptab\/","title":{"rendered":"\u30e0\u30b3\u30ea\u30d4\u30c9\u30fc\u30b7\u30b9\u2162\u578b"},"content":{"rendered":"\n

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

\u30e0\u30b3\u30ea\u30d4\u30c9\u30fc\u30b7\u30b9\u2162\u578b\uff08Mucolipidosis type III\uff09\u306f\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u9175\u7d20\u306e\u7d30\u80de\u5185\u8f38\u9001\u7570\u5e38\u306b\u3088\u308a\u751f\u3058\u308b\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u3067\u3059\u3002GNPTAB\u907a\u4f1d\u5b50\u306f\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u9175\u7d20\u306b\u30de\u30f3\u30ce\u30fc\u30b9-6-\u30ea\u30f3\u9178\uff08M6P\uff09\u6a19\u8b58\u3092\u4ed8\u52a0\u3059\u308bN-\u30a2\u30bb\u30c1\u30eb\u30b0\u30eb\u30b3\u30b5\u30df\u30f3-1-\u30db\u30b9\u30db\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\u8907\u5408\u4f53\u306e\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u305d\u306e\u6b20\u640d\u306b\u3088\u308a\u30ea\u30bd\u30bd\u30fc\u30e0\u9175\u7d20\u304c\u6b63\u3057\u304f\u6a19\u7684\u5316\u3055\u308c\u305a\u7d30\u80de\u5916\u3078\u6f0f\u51fa\u3057\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u7d30\u80de\u5185\u3067\u5206\u89e3\u3055\u308c\u308b\u3079\u304d\u7cd6\u8102\u8cea\u3084\u7cd6\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u84c4\u7a4d\u3057\u3001\u9aa8\u683c\u7cfb\u3001\u95a2\u7bc0\u3001\u5fc3\u81d3\u3001\u809d\u81d3\u306a\u3069\u591a\u81d3\u5668\u306b\u969c\u5bb3\u304c\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n

\u30e0\u30b3\u30ea\u30d4\u30c9\u30fc\u30b7\u30b9\u2162\u578b\u306f\u30e0\u30b3\u30ea\u30d4\u30c9\u30fc\u30b7\u30b9\u2161\u578b\uff08I-cell\u75c5\uff09\u3088\u308a\u8efd\u75c7\u3067\u3001\u4e3b\u306b\u5c0f\u5150\u671f\u4ee5\u964d\u306b\u767a\u75c7\u3057\u3001\u7de9\u5f90\u306b\u9032\u884c\u3059\u308b\u9aa8\u30fb\u95a2\u7bc0\u969c\u5bb3\u304c\u4e3b\u4f53\u3068\u306a\u308a\u307e\u3059\u3002(PMC)<\/p>\n\n\n\n

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

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

\u672c\u75be\u60a3\u306fGNPTAB\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u308a\u767a\u75c7\u3057\u307e\u3059\u3002GNPTAB\u306f\u30d2\u30c812\u756a\u67d3\u8272\u4f53\uff0812q23\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u9175\u7d20\u306e\u6a19\u8b58\u306b\u5fc5\u9808\u306a\u9175\u7d20\u8907\u5408\u4f53\u306e\u03b1\/\u03b2\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308aM6P\u30bf\u30b0\u4ed8\u52a0\u304c\u969c\u5bb3\u3055\u308c\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u9175\u7d20\u304c\u7d30\u80de\u5916\u306b\u5206\u6ccc\u3055\u308c\u3001\u7d30\u80de\u5185\u3067\u306f\u57fa\u8cea\u304c\u5206\u89e3\u3055\u308c\u305a\u84c4\u7a4d\u3057\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

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

\u9aa8\u30fb\u95a2\u7bc0<\/strong><\/h3>\n\n\n\n
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  • \u624b\u6307\u306e\u77ed\u7e2e<\/li>\n<\/ul>\n\n\n\n

    \u9854\u8c8c<\/strong><\/h3>\n\n\n\n
      \n
    • \u8efd\u5ea6\u306e\u7c97\u9854\u8c8c<\/li>\n<\/ul>\n\n\n\n

      \u5fc3\u81d3<\/strong><\/h3>\n\n\n\n
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      • \u5f01\u819c\u75c7<\/li>\n<\/ul>\n\n\n\n

        \u305d\u306e\u4ed6<\/strong><\/h3>\n\n\n\n
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        • \u809d\u813e\u816b\uff08\u8efd\u5ea6\uff09<\/li>\n\n\n\n
        • \u8074\u529b\u969c\u5bb3<\/li>\n<\/ul>\n\n\n\n

          \u77e5\u7684\u767a\u9054\u306f\u591a\u304f\u306e\u75c7\u4f8b\u3067\u6bd4\u8f03\u7684\u4fdd\u305f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n

          \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
            \n
          1. \u8840\u6e05\u30ea\u30bd\u30bd\u30fc\u30e0\u9175\u7d20\u6d3b\u6027\u306e\u7570\u5e38\u9ad8\u5024<\/li>\n\n\n\n
          2. \u5c3f\u4e2d\u30e0\u30b3\u591a\u7cd6\u5897\u52a0\uff08\u8efd\u5ea6\uff09<\/li>\n\n\n\n
          3. X\u7dda\u3067\u306e\u9aa8\u7570\u5f62\u6210<\/li>\n\n\n\n
          4. \u907a\u4f1d\u5b50\u8a3a\u65ad\uff08GNPTAB\u89e3\u6790\uff09(PMC)<\/li>\n<\/ol>\n\n\n\n

            \u6cbb\u7642<\/strong><\/h2>\n\n\n\n
              \n
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            • \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/li>\n<\/ul>\n\n\n\n

              \u9175\u7d20\u88dc\u5145\u7642\u6cd5\u3084\u907a\u4f1d\u5b50\u6cbb\u7642\u306f\u73fe\u6642\u70b9\u3067\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n

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

              \u30e0\u30b3\u30ea\u30d4\u30c9\u30fc\u30b7\u30b9\u2162\u578b \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)
              Tiede S et al. Mucolipidosis II and III: review. Orphanet J Rare Dis. 2005.(Orphanet)
              Mucolipidosis II\/III \u2014 GeneReviews, PubMed Central.(PMC)
              Mucolipidosis type III \u2014 Malacards Rare Disease Database.(malacards.org)<\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-122095","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\/122095","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\/122095\/revisions"}],"predecessor-version":[{"id":125254,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122095\/revisions\/125254"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122095"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}