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<a href=\"\/nipt\/nipt\/autosomal-recessive-inheritance\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8228<\/a> \u306e\u30da\u30fc\u30b8\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n\n<p>\u30a2\u30eb\u30ae\u30cb\u30ce\u30b3\u30cf\u30af\u9178\u5c3f\u75c7\u306f <strong>ASL<\/strong>\uff087q11.21\uff09\u306e\u4e21\u30a2\u30ec\u30eb\u5909\u7570\u306b\u3088\u308a\u751f\u3058\u308b\u5c3f\u7d20\u30b5\u30a4\u30af\u30eb\u7570\u5e38\u75c7\u3067\u3001\u983b\u5ea6\u306fOTC\u6b20\u640d\u75c7\u306b\u6b21\u3050\u3002ASL\u306f\u30a2\u30eb\u30ae\u30cb\u30ce\u30b3\u30cf\u30af\u9178\u3092\u30a2\u30eb\u30ae\u30cb\u30f3\u3068\u30d5\u30de\u30eb\u9178\u3078\u958b\u88c2\u3059\u308b\u3002<\/p>\n\n\n\n<p>\u8840\u6f3f\u30a2\u30df\u30ce\u9178\u5206\u6790\u3067\u306f\u30b7\u30c8\u30eb\u30ea\u30f3\u9ad8\u5024\uff08\u901a\u5e38100\u301c300 \u03bcmol\/L\u7a0b\u5ea6\u3067\u3001\u30b7\u30c8\u30eb\u30ea\u30f3\u8840\u75c7I\u578b\u307b\u3069\u8457\u660e\u3067\u306f\u306a\u3044\uff09\u3092\u793a\u3057\u3001<strong>\u8840\u4e2d\u30fb\u5c3f\u4e2d\u306e\u30a2\u30eb\u30ae\u30cb\u30ce\u30b3\u30cf\u30af\u9178\u306e\u691c\u51fa<\/strong>\u304c\u8a3a\u65ad\u78ba\u5b9a\u7684\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u672c\u75c7\u306b\u7279\u5fb4\u7684\u306a\u306e\u306f\u3001\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\u306e\u91cd\u75c7\u5ea6\u306b\u898b\u5408\u308f\u306a\u3044<strong>\u9577\u671f\u5408\u4f75\u75c7\uff08\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u3001\u809d\u7dda\u7dad\u75c7\u3001\u9ad8\u8840\u5727\uff09<\/strong>\u304c\u751f\u3058\u308b\u70b9\u3067\u3042\u308b\u3002ASL\u306fNO\u5408\u6210\u306b\u5fc5\u8981\u306a\u30a2\u30eb\u30ae\u30cb\u30f3\u306e\u7d30\u80de\u5185\u4f9b\u7d66\u306b\u3082\u95a2\u4e0e\u3057\u3066\u304a\u308a\u3001\u305d\u306e\u969c\u5bb3\u306b\u3088\u308bNO\u6b20\u4e4f\u304c\u3001\u809d\u969c\u5bb3\u30fb\u9ad8\u8840\u5727\u30fb\u795e\u7d4c\u5b66\u7684\u8ee2\u5e30\u306b\u5bc4\u4e0e\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002\u3053\u306e\u305f\u3081\u3001\u30a2\u30f3\u30e2\u30cb\u30a2\u7ba1\u7406\u304c\u826f\u597d\u3067\u3082\u8a8d\u77e5\u6a5f\u80fd\u306e\u969c\u5bb3\u304c\u6b8b\u308a\u3046\u308b\u3002<\/p>\n\n\n\n<p>\u6025\u6027\u671f\u6cbb\u7642\u306f\u86cb\u767d\u9664\u53bb\u30fb\u9ad8\u30ab\u30ed\u30ea\u30fc\u8f38\u6db2\u30fb\u30a2\u30eb\u30ae\u30cb\u30f3\u9759\u6ce8\u30fb\u7a92\u7d20\u6392\u6cc4\u85ac\uff08\u30d5\u30a7\u30cb\u30eb\u9162\u9178\u30ca\u30c8\u30ea\u30a6\u30e0\/\u5b89\u606f\u9999\u9178\u30ca\u30c8\u30ea\u30a6\u30e0\uff09\u3067\u3042\u308a\u3001\u8840\u4e2d\u30a2\u30f3\u30e2\u30cb\u30a2\u304c\u9ad8\u5024\u6301\u7d9a\u3059\u308b\u5834\u5408\u306f\u901f\u3084\u304b\u306b\u8840\u6db2\u6d44\u5316\u7642\u6cd5\u3078\u79fb\u884c\u3059\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u98df\u4e8b\u306f\u3069\u306e\u3088\u3046\u306b\u6c17\u3092\u3064\u3051\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u305f\u3093\u3071\u304f\u8cea\u306e\u91cf\u3092\u8abf\u6574\u3057\u3001\u4e0d\u8db3\u3059\u308b\u30a2\u30df\u30ce\u9178\u3092\u5c02\u7528\u306e\u30d5\u30a9\u30fc\u30df\u30e5\u30e9\u3067\u88dc\u3044\u307e\u3059\u3002\u7ba1\u7406\u6804\u990a\u58eb\u3068\u3068\u3082\u306b\u3001\u6210\u9577\u306b\u5fc5\u8981\u306a\u91cf\u3092\u78ba\u4fdd\u3057\u306a\u304c\u3089\u9032\u3081\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u30a2\u30f3\u30e2\u30cb\u30a2\u304c\u4e0a\u304c\u308b\u306e\u306f\u3069\u3093\u306a\u3068\u304d\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u611f\u67d3\u75c7\u3001\u767a\u71b1\u3001\u5614\u5410\u3084\u4e0b\u75e2\u3001\u9577\u6642\u9593\u306e\u7d76\u98df\u3001\u624b\u8853\u306e\u3042\u3068\u306a\u3069\u3067\u3059\u3002\u3053\u3046\u3057\u305f\u3068\u304d\u306f\u65e9\u3081\u306b\u53d7\u8a3a\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u9aea\u306e\u6bdb\u304c\u3082\u308d\u3044\u306e\u306f\u95a2\u4fc2\u304c\u3042\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u306f\u3044\u3002\u3053\u306e\u75c5\u6c17\u3067\u306f\u6bdb\u9aea\u304c\u3082\u308d\u304f\u5207\u308c\u3084\u3059\u304f\u306a\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\uff08\u7d50\u7bc0\u6027\u88c2\u6bdb\u75c7\uff09\u3002\u30a2\u30eb\u30ae\u30cb\u30f3\u306e\u88dc\u5145\u3067\u6539\u5584\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u30a2\u30f3\u30e2\u30cb\u30a2\u304c\u5b89\u5b9a\u3057\u3066\u3044\u308c\u3070\u5b89\u5fc3\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u3053\u306e\u75c5\u6c17\u3067\u306f\u3001\u30a2\u30f3\u30e2\u30cb\u30a2\u306e\u7ba1\u7406\u304c\u826f\u597d\u3067\u3082\u3001\u809d\u81d3\u306e\u7dda\u7dad\u5316\u3084\u9ad8\u8840\u5727\u3001\u5b66\u7fd2\u306e\u56f0\u96e3\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5b9a\u671f\u7684\u306a\u691c\u67fb\u3092\u7d9a\u3051\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u5b50\u3082\u540c\u3058\u75c5\u6c17\u306b\u306a\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u3067\u3059\u3002\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u306e\u5834\u5408\u3001\u598a\u5a20\u306e\u305f\u3073\u306b4\u5206\u306e1\u306e\u78ba\u7387\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Nagamani SC, Erez A, Lee B. Argininosuccinate lyase deficiency. <em>Genet Med<\/em>. 2012;14(5):501-507.<\/li>\n\n\n\n<li>Erez A, Nagamani SC, Shchelochkov OA, et al. Requirement of argininosuccinate lyase for systemic nitric oxide production. <em>Nat Med<\/em>. 2011;17(12):1619-1626.<\/li>\n\n\n\n<li>Baruteau J, Diez-Fernandez C, Lerner S, et al. Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospect. <em>J Inherit Metab Dis<\/em>. 2019;42(6):1147-1161.<\/li>\n\n\n\n<li>H\u00e4berle J, Burlina A, Chakrapani A, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision. <em>J Inherit Metab Dis<\/em>. 2019;42(6):1192-1230.<\/li>\n\n\n\n<li>OMIM #207900 Argininosuccinic aciduria<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136665","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\/136665","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":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136665\/revisions"}],"predecessor-version":[{"id":137035,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136665\/revisions\/137035"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136665"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}