{"id":122040,"date":"2026-01-08T15:38:16","date_gmt":"2026-01-08T06:38:16","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=122040"},"modified":"2026-03-03T15:30:19","modified_gmt":"2026-03-03T06:30:19","slug":"phenylketonurea-pah","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/phenylketonurea-pah\/","title":{"rendered":"\u30d5\u30a7\u30cb\u30eb\u30b1\u30c8\u30f3\u5c3f\u75c7\uff08PAH\u95a2\u9023\uff09"},"content":{"rendered":"\n

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

\u30d5\u30a7\u30cb\u30eb\u30b1\u30c8\u30f3\u5c3f\u75c7\uff08Phenylketonuria\uff1aPKU\uff09\u306f\u3001\u5fc5\u9808\u30a2\u30df\u30ce\u9178\u3067\u3042\u308b\u30d5\u30a7\u30cb\u30eb\u30a2\u30e9\u30cb\u30f3\u3092\u30c1\u30ed\u30b7\u30f3\u306b\u5909\u63db\u3059\u308b\u9175\u7d20\u30d5\u30a7\u30cb\u30eb\u30a2\u30e9\u30cb\u30f3\u6c34\u9178\u5316\u9175\u7d20\uff08PAH\uff09\u306e\u6b20\u640d\u307e\u305f\u306f\u6a5f\u80fd\u4f4e\u4e0b\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u4ee3\u8868\u7684\u306a\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u3067\u3059\u3002PAH\u6d3b\u6027\u304c\u4f4e\u4e0b\u3059\u308b\u3068\u30d5\u30a7\u30cb\u30eb\u30a2\u30e9\u30cb\u30f3\u304c\u4f53\u5185\u306b\u84c4\u7a4d\u3057\u3001\u4e2d\u67a2\u795e\u7d4c\u306b\u6bd2\u6027\u3092\u793a\u3059\u3053\u3068\u3067\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u3066\u3093\u304b\u3093\u3001\u884c\u52d5\u7570\u5e38\u306a\u3069\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n

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

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

\u672c\u75be\u60a3\u306fPAH\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002PAH\u907a\u4f1d\u5b50\u306f\u30d2\u30c812\u756a\u67d3\u8272\u4f53\uff0812q23.2\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u30d5\u30a7\u30cb\u30eb\u30a2\u30e9\u30cb\u30f3\u4ee3\u8b1d\u306b\u5fc5\u9808\u306e\u9175\u7d20\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002\u9175\u7d20\u6b20\u640d\u306b\u3088\u308a\u30d5\u30a7\u30cb\u30eb\u30a2\u30e9\u30cb\u30f3\u304c\u5206\u89e3\u3067\u304d\u305a\u3001\u9ad8\u30d5\u30a7\u30cb\u30eb\u30a2\u30e9\u30cb\u30f3\u8840\u75c7\u3092\u6765\u3057\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

\u672a\u6cbb\u7642\u306e\u5834\u5408<\/strong><\/h3>\n\n\n\n
    \n
  • \u767a\u9054\u9045\u6ede<\/li>\n\n\n\n
  • \u3066\u3093\u304b\u3093<\/li>\n\n\n\n
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  • \u4f4e\u8272\u7d20\uff08\u76ae\u819a\u30fb\u6bdb\u9aea\u304c\u8584\u3044\uff09<\/li>\n\n\n\n
  • \u6e7f\u75b9<\/li>\n<\/ul>\n\n\n\n

    \u6cbb\u7642\u958b\u59cb\u5f8c<\/strong><\/h3>\n\n\n\n

    \u307b\u307c\u7121\u75c7\u72b6<\/p>\n\n\n\n

    \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
      \n
    1. \u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u9ad8\u30d5\u30a7\u30cb\u30eb\u30a2\u30e9\u30cb\u30f3\u8840\u75c7<\/li>\n\n\n\n
    2. \u8840\u4e2d\u30a2\u30df\u30ce\u9178\u5206\u6790<\/li>\n\n\n\n
    3. \u907a\u4f1d\u5b50\u8a3a\u65ad\uff08PAH\u89e3\u6790\uff09(PMC)<\/li>\n<\/ol>\n\n\n\n

      \u6cbb\u7642<\/strong><\/h2>\n\n\n\n
        \n
      • \u4f4e\u30d5\u30a7\u30cb\u30eb\u30a2\u30e9\u30cb\u30f3\u98df<\/li>\n\n\n\n
      • \u7279\u6b8a\u30df\u30eb\u30af\u30fb\u98df\u54c1<\/li>\n\n\n\n
      • BH4\uff08\u30b5\u30d7\u30ed\u30d7\u30c6\u30ea\u30f3\uff09\u7642\u6cd5\uff08\u53cd\u5fdc\u4f8b\uff09<\/li>\n\n\n\n
      • \u5b9a\u671f\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0<\/li>\n<\/ul>\n\n\n\n

        \u53c2\u8003\u6587\u732e<\/strong><\/h3>\n\n\n\n

        \u30d5\u30a7\u30cb\u30eb\u30b1\u30c8\u30f3\u5c3f\u75c7 \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)
        Scriver CR et al. The hyperphenylalaninemias. N Engl J Med. 1995.(NEJM)
        Phenylketonuria \u2014 GeneReviews, PubMed Central.(PMC)
        Phenylketonuria \u2014 Malacards Rare Disease Database.(malacards.org)<\/p>\n\n\n\n

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