{"id":33572,"date":"2022-07-11T16:52:42","date_gmt":"2022-07-11T07:52:42","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33572"},"modified":"2026-05-08T12:29:58","modified_gmt":"2026-05-08T03:29:58","slug":"asparagine-synthetase-deficiency","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/asparagine-synthetase-deficiency\/","title":{"rendered":"\u30a2\u30b9\u30d1\u30e9\u30ae\u30f3\u5408\u6210\u9175\u7d20\u6b20\u640d\u75c7"},"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>\u30a2\u30b9\u30d1\u30e9\u30ae\u30f3\u5408\u6210\u9175\u7d20\u6b20\u640d\u75c7\uff08ASNSD\uff09\u306f\u3001\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u308a\u8133\u306e\u767a\u9054\u304c\u59a8\u3052\u3089\u308c\u308b\u975e\u5e38\u306b\u307e\u308c\u306a\u5148\u5929\u6027\u4ee3\u8b1d\u75be\u60a3\u3067\u3059\u3002\u91cd\u5ea6\u306e\u5148\u5929\u6027\u5c0f\u982d\u75c7\u3084\u96e3\u6cbb\u6027\u306e\u3051\u3044\u308c\u3093\u767a\u4f5c\u306a\u3069\u304c\u7279\u5fb4\u3067\u3001\u65e9\u671f\u8a3a\u65ad\u304c\u91cd\u8981\u3068\u306a\u308a\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306fASNSD\u306e\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u6cd5\u3084\u6700\u65b0\u306e\u7814\u7a76\u52d5\u5411\u3092\u5206\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>ASNS\uff5cAsparagine Synthetase Deficiency<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u30a2\u30b9\u30d1\u30e9\u30ae\u30f3\u5408\u6210\u9175\u7d20\u6b20\u640d\u75c7\uff08ASNSD\uff09\u306f\u3001\u30a2\u30b9\u30d1\u30e9\u30ae\u30f3\u5408\u6210\u9175\u7d20\uff08ASNS\uff09\u3068\u3044\u3046\u9175\u7d20\u3092\u4f5c\u308b\u907a\u4f1d\u5b50\uff08ASNS\u907a\u4f1d\u5b50\uff09\u306b\u7570\u5e38\uff08\u5909\u7570\uff09\u304c\u751f\u3058\u308b\u3053\u3068\u3067\u767a\u75c7\u3059\u308b\u3001\u975e\u5e38\u306b\u307e\u308c\u306a\u5148\u5929\u6027\u4ee3\u8b1d\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u7b2c7\u756a\u67d3\u8272\u4f53\u306e\u9577\u815521.3\u9818\u57df\uff087q21.3\uff09\u306b\u5b58\u5728\u3057\u3066\u3044\u307e\u3059\u3002ASNS\u9175\u7d20\u306f\u3001\u4f53\u5185\u3067\u30a2\u30b9\u30d1\u30e9\u30ae\u30f3\uff08Asn\uff09\u3068\u3044\u3046\u30a2\u30df\u30ce\u9178\u3092\u4f5c\u308a\u51fa\u3059\u5f79\u5272\u3092\u62c5\u3063\u3066\u304a\u308a\u3001\u5177\u4f53\u7684\u306b\u306f\u30a2\u30b9\u30d1\u30e9\u30ae\u30f3\u9178\uff08Asp\uff09\u3092\u30b0\u30eb\u30bf\u30df\u30f3\uff08Gln\uff09\u304a\u3088\u3073\u30a8\u30cd\u30eb\u30ae\u30fc\u6e90\u3067\u3042\u308bATP\uff08\u30a2\u30c7\u30ce\u30b7\u30f3\u4e09\u30ea\u30f3\u9178\uff09\u3068\u53cd\u5fdc\u3055\u305b\u3066\u30a2\u30b9\u30d1\u30e9\u30ae\u30f3\u3092\u5408\u6210\u3057\u307e\u3059\u3002\u3053\u306e\u50cd\u304d\u306f\u7279\u306b\u8133\u306e\u767a\u9054\u306b\u91cd\u8981\u3067\u3059\u3002ASNSD\u306e\u60a3\u8005\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u982d\u90e8\u304c\u8457\u3057\u304f\u5c0f\u3055\u3044\uff08\u91cd\u5ea6\u306e\u5148\u5929\u6027\u5c0f\u982d\u75c7\uff09\u3053\u3068\u304c\u591a\u304f\u3001\u767a\u9054\u306e\u9045\u308c\u3084\u3001\u5f90\u3005\u306b\u9032\u884c\u3059\u308b\u8133\u306e\u840e\u7e2e\uff08\u8133\u304c\u7e2e\u3093\u3067\u3057\u307e\u3046\u72b6\u614b\uff09\u3001\u6cbb\u7642\u304c\u96e3\u3057\u3044\u3051\u3044\u308c\u3093\u767a\u4f5c\u306a\u3069\u3092\u793a\u3057\u307e\u3059\u3002\u75c7\u72b6\u306f\u901a\u5e38\u3001\u751f\u307e\u308c\u3066\u9593\u3082\u306a\u3044\u4e73\u5150\u671f\u306b\u73fe\u308c\u3001\u65e9\u671f\u306b\u4ea1\u304f\u306a\u308b\u30b1\u30fc\u30b9\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>ASNSD\u306f\u975e\u5e38\u306b\u5e0c\u5c11\u306a\u75c5\u6c17\u3067\u3042\u308a\u3001\u4e16\u754c\u7684\u306a\u60a3\u8005\u6570\u306f100\u4e07\u4eba\u306b1\u4eba\u4ee5\u4e0b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u304c\u521d\u3081\u3066\u5831\u544a\u3055\u308c\u305f\u306e\u306f2013\u5e74\u306e\u3053\u3068\u3067\u3001\u305d\u308c\u4ee5\u964d\u3001\u4e16\u754c\u4e2d\u3067\u7d0455\u5bb6\u65cf\u3001\u5408\u8a08\u7d04100\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4e73\u5150\u671f\u3067\u306e\u6b7b\u4ea1\u7387\u304c\u9ad8\u304f\u3001\u60a3\u8005\u306e\u7d0470\uff5e72\uff05\u304c\u5e7c\u3044\u6642\u671f\u306b\u4ea1\u304f\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u3053\u306e\u75be\u60a3\u306f\u7279\u5b9a\u306e\u6c11\u65cf\u3084\u5730\u57df\u306b\u9650\u3089\u305a\u3001\u4e16\u754c\u5404\u5730\u3067\u3055\u307e\u3056\u307e\u306a\u6c11\u65cf\u7684\u80cc\u666f\u3092\u6301\u3064\u4eba\u3005\u304b\u3089\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>ASNSD\u306f\u3001ASNS\u907a\u4f1d\u5b50\u306b2\u3064\u306e\u7570\u5e38\uff08\u4e21\u30a2\u30ec\u30eb\u6027\u5909\u7570\uff09\u304c\u3042\u308b\u5834\u5408\u306b\u767a\u75c7\u3057\u307e\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001\u540c\u3058\u5909\u7570\u30922\u3064\u6301\u3064\u5834\u5408\uff08\u30db\u30e2\u63a5\u5408\u4f53\uff09\u307e\u305f\u306f\u7570\u306a\u308b\u5909\u7570\u30921\u3064\u305a\u3064\u6301\u3064\u5834\u5408\uff08\u8907\u5408\u30d8\u30c6\u30ed\u63a5\u5408\u4f53\uff09\u306e\u4e21\u65b9\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u73fe\u5728\u307e\u3067\u306b50\u7a2e\u985e\u4ee5\u4e0a\u306e\u5909\u7570\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u305d\u306e\u591a\u304f\u306f\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\uff08\u907a\u4f1d\u5b50\u5185\u306e\u4e00\u90e8\u304c\u7f6e\u304d\u63db\u308f\u308a\u3001\u9175\u7d20\u306e\u4e00\u90e8\u3067\u3042\u308b\u30a2\u30df\u30ce\u9178\u304c\u5225\u306e\u3082\u306e\u306b\u5909\u308f\u3063\u3066\u3057\u307e\u3046\u5909\u7570\uff09\u3067\u3059\u3002\u4ed6\u306b\u306f\u3001\u907a\u4f1d\u5b50\u306e\u67a0\u7d44\u307f\u304c\u305a\u308c\u308b\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u5909\u7570\u3084\u3001\u9175\u7d20\u304c\u9014\u4e2d\u3067\u9014\u5207\u308c\u3066\u3057\u307e\u3046\u30c8\u30e9\u30f3\u30b1\u30fc\u30b7\u30e7\u30f3\u5909\u7570\u3082\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u3063\u3066\u3001\u9175\u7d20\u304c\u6b63\u5e38\u306b\u6a5f\u80fd\u3057\u306a\u304f\u306a\u308a\u3001\u4f53\u5185\u306e\u30a2\u30b9\u30d1\u30e9\u30ae\u30f3\u91cf\u304c\u4e0d\u8db3\u3057\u307e\u3059\u3002\u3055\u3089\u306b\u7814\u7a76\u3067\u306f\u3001\u9175\u7d20\u306e\u76f4\u63a5\u7684\u306a\u6d3b\u6027\u90e8\u5206\u4ee5\u5916\u306b\u8d77\u304d\u305f\u5909\u7570\u3067\u3042\u3063\u3066\u3082\u3001\u9175\u7d20\u306e\u69cb\u9020\u304c\u4e0d\u5b89\u5b9a\u306b\u306a\u308a\u3001\u6a5f\u80fd\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u30a2\u30b9\u30d1\u30e9\u30ae\u30f3\u306e\u4e0d\u8db3\u304c\u5177\u4f53\u7684\u306b\u3069\u306e\u3088\u3046\u306a\u4ed5\u7d44\u307f\u3067\u8133\u306e\u767a\u9054\u3092\u59a8\u3052\u308b\u306e\u304b\u306b\u3064\u3044\u3066\u306f\u3001\u307e\u3060\u5b8c\u5168\u306b\u660e\u3089\u304b\u306b\u306a\u3063\u3066\u3044\u307e\u305b\u3093\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>ASNSD\u306e\u4e3b\u306a\u75c7\u72b6\u3068\u3057\u3066\u3001\u751f\u307e\u308c\u3064\u304d\u982d\u304c\u975e\u5e38\u306b\u5c0f\u3055\u3044\uff08\u5148\u5929\u6027\u5c0f\u982d\u75c7\uff09\u3053\u3068\u3084\u91cd\u5ea6\u306e\u767a\u9054\u9045\u5ef6\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u4f53\u306e\u4e2d\u5fc3\u90e8\u5206\u304c\u5f31\u304f\u7b4b\u529b\u304c\u4f4e\u4e0b\u3059\u308b\u8ef8\u6027\u4f4e\u7dca\u5f35\u304b\u3089\u3001\u5f90\u3005\u306b\u624b\u8db3\u306b\u5f37\u3044\u7b4b\u8089\u306e\u7dca\u5f35\uff08\u75d9\u6027\uff09\u304c\u5e83\u304c\u308b\u75d9\u6027\u56db\u80a2\u9ebb\u75fa\u3078\u3068\u9032\u884c\u3057\u307e\u3059\u3002\u8133\u306f\u6642\u9593\u3068\u3068\u3082\u306b\u840e\u7e2e\u3057\u3001\u3051\u3044\u308c\u3093\u767a\u4f5c\u304c\u751f\u5f8c\u307e\u3082\u306a\u304f\u59cb\u307e\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u6700\u521d\u306e\u767a\u4f5c\u306f\u751f\u5f8c1\u65e5\u304b\u30899\u304b\u6708\u9803\uff08\u4e2d\u592e\u5024\uff09\u306b\u73fe\u308c\u307e\u3059\u3002\u305d\u306e\u307b\u304b\u3001\u76ae\u8cea\u76f2\uff08\u76ee\u306b\u7570\u5e38\u304c\u306a\u3044\u306e\u306b\u8133\u306e\u554f\u984c\u3067\u898b\u3048\u306a\u304f\u306a\u308b\u75c7\u72b6\uff09\u3001\u53cd\u5c04\u306e\u904e\u654f\u6027\uff08\u8171\u53cd\u5c04\u306e\u4ea2\u9032\uff09\u3001\u91cd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u6442\u98df\u56f0\u96e3\u306a\u3069\u3082\u898b\u3089\u308c\u307e\u3059\u3002\u75c7\u72b6\u306e\u91cd\u3055\u306f\u60a3\u8005\u3054\u3068\u306b\u7570\u306a\u308a\u3001\u907a\u4f1d\u5b50\u5909\u7570\u306e\u7a2e\u985e\u3084\u9175\u7d20\u6d3b\u6027\u306e\u4f4e\u4e0b\u5ea6\u5408\u3044\u306b\u3088\u3063\u3066\u5909\u5316\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>ASNSD\u306e\u78ba\u5b9a\u8a3a\u65ad\u306f\u3001\u4e3b\u306b\u907a\u4f1d\u5b50\u691c\u67fb\uff08DNA\u691c\u67fb\uff09\u306b\u3088\u3063\u3066\u884c\u308f\u308c\u307e\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001ASNS\u907a\u4f1d\u5b50\u306e\u5869\u57fa\u914d\u5217\u3092\u89e3\u6790\u3057\u3066\u75c5\u6c17\u306e\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u5909\u7570\u3092\u7279\u5b9a\u3057\u307e\u3059\u3002\u8840\u6db2\u3084\u9ac4\u6db2\u306e\u30a2\u30b9\u30d1\u30e9\u30ae\u30f3\u6fc3\u5ea6\u304c\u4f4e\u3044\u3053\u3068\u3082\u8a3a\u65ad\u306e\u53c2\u8003\u306b\u306f\u306a\u308a\u307e\u3059\u304c\u3001\u6b63\u5e38\u306a\u30a2\u30b9\u30d1\u30e9\u30ae\u30f3\u6fc3\u5ea6\u3067\u3042\u3063\u3066\u3082ASNSD\u3092\u5426\u5b9a\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u306a\u3044\u305f\u3081\u3001\u751f\u5316\u5b66\u7684\u306a\u691c\u67fb\u3060\u3051\u3067\u8a3a\u65ad\u3059\u308b\u3053\u3068\u306f\u56f0\u96e3\u3067\u3059\u3002\u80ce\u5150\u306e\u8a3a\u65ad\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff09\u306f\u96e3\u3057\u3044\u3067\u3059\u304c\u3001\u8d85\u97f3\u6ce2\u691c\u67fb\u3084MRI\u691c\u67fb\u306a\u3069\u3067\u80ce\u5150\u306b\u8133\u306e\u767a\u9054\u7570\u5e38\uff08\u305f\u3068\u3048\u3070\u4e21\u982d\u9802\u5f84\u306e\u8457\u3057\u3044\u7e2e\u5c0f\u3084\u9032\u884c\u6027\u306e\u8133\u840e\u7e2e\u306a\u3069\uff09\u304c\u898b\u3089\u308c\u305f\u5834\u5408\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u7528\u3044\u3066\u8a3a\u65ad\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>ASNSD\u306b\u306f\u3001\u73fe\u5728\u3001\u75c5\u6c17\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u304c\u5b58\u5728\u3057\u307e\u305b\u3093\u3002\u305d\u306e\u305f\u3081\u3001\u6cbb\u7642\u306f\u4e3b\u306b\u75c7\u72b6\u3092\u548c\u3089\u3052\u308b\u305f\u3081\u306e\u30b5\u30dd\u30fc\u30c8\u30b1\u30a2\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001\u3051\u3044\u308c\u3093\u767a\u4f5c\u3092\u6291\u3048\u305f\u308a\u3001\u7b4b\u8089\u306e\u5f37\u3044\u7dca\u5f35\uff08\u75d9\u6027\uff09\u3092\u7de9\u548c\u3057\u305f\u308a\u3057\u3066\u3001\u60a3\u8005\u3055\u3093\u304c\u3067\u304d\u308b\u3060\u3051\u5feb\u9069\u306b\u751f\u6d3b\u3067\u304d\u308b\u3088\u3046\u306b\u7ba1\u7406\u3057\u307e\u3059\u3002\u7406\u8ad6\u4e0a\u306f\u30a2\u30b9\u30d1\u30e9\u30ae\u30f3\u306e\u88dc\u5145\u304c\u6709\u52b9\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u304c\u3001\u5b9f\u969b\u306b\u75c7\u72b6\u304c\u6539\u5584\u3059\u308b\u3068\u3044\u3046\u660e\u78ba\u306a\u8a3c\u62e0\u306f\u306a\u304f\u3001\u52b9\u679c\u304c\u4e00\u5b9a\u3057\u307e\u305b\u3093\u3002\u4ee3\u8b1d\u306b\u95a2\u3059\u308b\u7814\u7a76\u304b\u3089\u306f\u3001\u4ee3\u8b1d\u30b9\u30c8\u30ec\u30b9\u306e\u7ba1\u7406\u304c\u7d30\u80de\u30ec\u30d9\u30eb\u306e\u60aa\u5f71\u97ff\u3092\u8efd\u6e1b\u3067\u304d\u308b\u53ef\u80fd\u6027\u3082\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5c06\u6765\u7684\u306b\u306f\u3001\u6b63\u5e38\u306aASNS\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u5c0e\u5165\u3059\u308b\u907a\u4f1d\u5b50\u6cbb\u7642\u3084\u9175\u7d20\u88dc\u5145\u7642\u6cd5\u304c\u7814\u7a76\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>ASNSD\u306e\u4e88\u5f8c\uff08\u75c5\u6c17\u306e\u5c06\u6765\u7684\u306a\u898b\u901a\u3057\uff09\u306f\u4e00\u822c\u7684\u306b\u826f\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u60a3\u8005\u306e\u7d0470\uff5e72\uff05\u304c\u4e73\u5150\u671f\u307e\u305f\u306f\u5e7c\u5c11\u671f\u306b\u4ea1\u304f\u306a\u308a\u307e\u3059\u3002\u751f\u5b58\u3057\u305f\u5834\u5408\u3067\u3082\u3001\u91cd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u6cbb\u7642\u56f0\u96e3\u306a\u3051\u3044\u308c\u3093\u767a\u4f5c\u3001\u91cd\u3044\u904b\u52d5\u969c\u5bb3\u3092\u62b1\u3048\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u751f\u6d3b\u306e\u8cea\u306f\u8457\u3057\u304f\u4f4e\u4e0b\u3057\u307e\u3059\u3002\u65e9\u671f\u767a\u898b\u3068\u5341\u5206\u306a\u30b5\u30dd\u30fc\u30c8\u30b1\u30a2\u306b\u3088\u3063\u3066\u3001\u60a3\u8005\u306e\u5feb\u9069\u3055\u3084\u751f\u5b58\u671f\u9593\u3092\u308f\u305a\u304b\u306b\u5ef6\u3070\u305b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u9577\u671f\u751f\u5b58\u3068\u826f\u597d\u306a\u767a\u9054\u3092\u9054\u6210\u3059\u308b\u3053\u3068\u306f\u975e\u5e38\u306b\u7a00\u3067\u3059\u3002\u4eca\u5f8c\u3001\u4e88\u5f8c\u6539\u5584\u306e\u305f\u3081\u306b\u306f\u3001\u65e9\u671f\u8a3a\u65ad\u3084\u4ee3\u8b1d\u6cbb\u7642\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\u6cd5\u306e\u767a\u5c55\u304c\u91cd\u8981\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-group references\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\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\/10.1016\/j.jbc.2022.102385\">Staklinski, S. J., Chang, M. C., Yu, F., Collins Ruff, K., Franz, D. N., Qian, Z., Bloom, L. B., Merritt, M. E., McKenna, R., &amp; Kilberg, M. S. (2022). Cellular and molecular characterization of two novel asparagine synthetase gene mutations linked to asparagine synthetase deficiency. <em>Journal of Biological Chemistry<\/em>, <em>298<\/em>(9), 102385. https:\/\/doi.org\/10.1016\/j.jbc.2022.102385<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.cca.2022.04.989\">Liu, L., Wang, J., Li, H., Dong, Y., Li, Y., Xia, L., Yang, B., Wang, H., Xu, Y., Cheng, G., Du, K., Zhang, X., Zhu, C., Cui, S., &amp; Ren, C. (2022). An intractable epilepsy phenotype of ASNS novel mutation in two patients with asparagine synthetase deficiency. <em>Clinica Chimica Acta<\/em>, <em>531<\/em>, 331\u2013336. https:\/\/doi.org\/10.1016\/j.cca.2022.04.989<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/nu15081938\">Chang, M. C., Staklinski, S. J., Malut, V. R., Pierre, G. L., Kilberg, M. S., &amp; Merritt, M. E. (2023). Metabolomic profiling of asparagine deprivation in asparagine synthetase deficiency patient-derived cells. <em>Nutrients<\/em>, <em>15<\/em>(8), 1938. https:\/\/doi.org\/10.3390\/nu15081938<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/jmd2.12356\">Staklinski, S. J., Chang, M. C., Ahrens\u2010Nicklas, R. C., Kaur, S., Stefanatos, A. K., Dudenhausen, E. E., Merritt, M. E., &amp; Kilberg, M. S. (2023). Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines. <em>JIMD Reports<\/em>, <em>64<\/em>(2), 167\u2013179. https:\/\/doi.org\/10.1002\/jmd2.12356<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fped.2023.1273789\">Zhu, L., Sun, Y., Xu, Y., Jin, P., Ding, H., &amp; Dong, M. (2023). Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis. <em>Frontiers in Pediatrics<\/em>, <em>11<\/em>, 1273789. https:\/\/doi.org\/10.3389\/fped.2023.1273789<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/biomethods\/bpad026\">Chang, M. C., Staklinski, S. J., Merritt, M. E., &amp; Kilberg, M. S. (2023). A method for measurement of human asparagine synthetase (Asns) activity and application to ASNS protein variants associated with ASNS deficiency. <em>Biology Methods and Protocols<\/em>, <em>8<\/em>(1), bpad026. https:\/\/doi.org\/10.1093\/biomethods\/bpad026<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":31,"template":"page_gd.php","class_list":["post-33572","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\/33572","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":8,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33572\/revisions"}],"predecessor-version":[{"id":128074,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33572\/revisions\/128074"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33572"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}