{"id":122208,"date":"2026-01-09T12:37:07","date_gmt":"2026-01-09T03:37:07","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=122208"},"modified":"2026-03-03T12:15:00","modified_gmt":"2026-03-03T03:15:00","slug":"3-phosphoglycerate-dehydrogenase-deficiency-phgdh","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/3-phosphoglycerate-dehydrogenase-deficiency-phgdh\/","title":{"rendered":"\u30db\u30b9\u30db\u30b0\u30ea\u30bb\u30ea\u30f3\u9178\u8131\u6c34\u7d20\u9175\u7d20\u6b20\u640d\u75c7"},"content":{"rendered":"\n

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

\u30db\u30b9\u30db\u30b0\u30ea\u30bb\u30ea\u30f3\u9178\u8131\u6c34\u7d20\u9175\u7d20\u6b20\u640d\u75c7\u306f\u3001\u30bb\u30ea\u30f3\u751f\u5408\u6210\u7d4c\u8def\u306e\u6700\u521d\u306e\u5f8b\u901f\u6bb5\u968e\u3092\u62c5\u3046\u9175\u7d20\u3067\u3042\u308b3-\u30db\u30b9\u30db\u30b0\u30ea\u30bb\u30ea\u30f3\u9178\u8131\u6c34\u7d20\u9175\u7d20\uff08PHGDH\uff09\u306e\u6d3b\u6027\u4f4e\u4e0b\u306b\u3088\u308a\u751f\u3058\u308b\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u3067\u3059\u3002PHGDH\u306f\u89e3\u7cd6\u7cfb\u4e2d\u9593\u4f53\u3067\u3042\u308b3-\u30db\u30b9\u30db\u30b0\u30ea\u30bb\u30ea\u30f3\u9178\u304b\u30893-\u30db\u30b9\u30db\u30d2\u30c9\u30ed\u30ad\u30b7\u30d4\u30eb\u30d3\u30f3\u9178\u3078\u306e\u5909\u63db\u3092\u62c5\u3044\u3001L-\u30bb\u30ea\u30f3\u5408\u6210\u306e\u51fa\u767a\u70b9\u3068\u306a\u308a\u307e\u3059\u3002L-\u30bb\u30ea\u30f3\u306f\u4e2d\u67a2\u795e\u7d4c\u7cfb\u306e\u767a\u9054\u3001\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u5408\u6210\u3001\u30ea\u30f3\u8102\u8cea\u5408\u6210\u306b\u5fc5\u9808\u3067\u3042\u308a\u3001\u305d\u306e\u6b20\u4e4f\u306f\u91cd\u7be4\u306a\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n

\u672c\u75be\u60a3\u306f\u80ce\u5150\u671f\u304b\u3089\u8133\u767a\u9054\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u305f\u3081\u3001\u5148\u5929\u5947\u5f62\u3001\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u75be\u60a3\u3067\u3059\u3002(PMC)<\/p>\n\n\n\n

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

PHGDH\u6b20\u640d\u75c7\u306f\u6975\u3081\u3066\u7a00\u3067\u3001\u4e16\u754c\u7684\u5831\u544a\u6570\u306f50\u4f8b\u672a\u6e80\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6b63\u78ba\u306a\u6709\u75c5\u7387\u306f\u4e0d\u660e\u3067\u3059\u304c\u3001100\u4e07\u4eba\u306b1\u4eba\u672a\u6e80\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002(Orphanet)<\/p>\n\n\n\n

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

\u672c\u75be\u60a3\u306fPHGDH\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u308a\u767a\u75c7\u3057\u307e\u3059\u3002PHGDH\u907a\u4f1d\u5b50\u306f\u30d2\u30c81\u756a\u67d3\u8272\u4f53\uff081p12\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u30bb\u30ea\u30f3\u5408\u6210\u306b\u5fc5\u9808\u306a\u9175\u7d20\u3092\u30b3\u30fc\u30c9\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<\/p>\n\n\n\n

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

\u4e2d\u67a2\u795e\u7d4c<\/strong><\/h3>\n\n\n\n
    \n
  • \u5c0f\u982d\u75c7<\/li>\n\n\n\n
  • \u91cd\u5ea6\u767a\u9054\u9045\u6ede<\/li>\n\n\n\n
  • \u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093<\/li>\n\n\n\n
  • \u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/li>\n<\/ul>\n\n\n\n

    \u8eab\u4f53\u6240\u898b<\/strong><\/h3>\n\n\n\n
      \n
    • \u4f4e\u8eab\u9577<\/li>\n\n\n\n
    • \u5148\u5929\u5947\u5f62\uff08\u5fc3\u30fb\u53e3\u5507\u88c2\u306a\u3069\uff09<\/li>\n<\/ul>\n\n\n\n

      \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
        \n
      1. \u8840\u4e2d\u30fb\u9ac4\u6db2\u4e2dL-\u30bb\u30ea\u30f3\u4f4e\u5024<\/li>\n\n\n\n
      2. \u8133MRI\u3067\u5c0f\u982d\u75c7\u30fb\u8133\u5f62\u6210\u7570\u5e38<\/li>\n\n\n\n
      3. \u907a\u4f1d\u5b50\u8a3a\u65ad\uff08PHGDH\u89e3\u6790\uff09(PMC)<\/li>\n<\/ol>\n\n\n\n

        \u6cbb\u7642<\/strong><\/h2>\n\n\n\n
          \n
        • L-\u30bb\u30ea\u30f3\u88dc\u5145\u7642\u6cd5\uff08\u9ad8\u7528\u91cf\uff09<\/li>\n\n\n\n
        • \u3066\u3093\u304b\u3093\u7ba1\u7406<\/li>\n\n\n\n
        • \u6804\u990a\u7ba1\u7406<\/li>\n\n\n\n
        • \u767a\u9054\u652f\u63f4<\/li>\n<\/ul>\n\n\n\n

          \u65e9\u671f\u6cbb\u7642\u306b\u3088\u308a\u795e\u7d4c\u75c7\u72b6\u306e\u6539\u5584\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n

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

          3-Phosphoglycerate Dehydrogenase Deficiency \u2014 GeneReviews, PubMed Central.(PMC)
          Jaeken J et al. 3-phosphoglycerate dehydrogenase deficiency. J Inherit Metab Dis. 1996.(JIMD)
          PHGDH \u2014 Malacards Gene\/Disease Database.(malacards.org)
          PHGDH deficiency \u2014 Orphanet Rare Disease Database.(Orphanet)<\/p>\n\n\n\n

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