{"id":33637,"date":"2022-07-11T17:24:02","date_gmt":"2022-07-11T08:24:02","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33637"},"modified":"2026-04-28T11:57:09","modified_gmt":"2026-04-28T02:57:09","slug":"citrin-deficiency","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/citrin-deficiency\/","title":{"rendered":"\u30b7\u30c8\u30ea\u30f3\u6b20\u640d\u75c7"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>SLC25A13\uff5cCitrin Deficiency<\/p>\n\n\n\n<p><sup><sub>\u30b7\u30c8\u30ea\u30f3\u6b20\u640d\u75c7\uff08CD\uff09\u306f\u30013\u3064\u306e\u6bb5\u968e\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u9032\u884c\u306e\u4ed5\u65b9\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001NICCD\u304b\u3089\u76f4\u63a5FTTDCD\u306b\u79fb\u884c\u3059\u308b\u5834\u5408\u3082\u3042\u308c\u3070\u3001\u6642\u9593\u3092\u304b\u3051\u3066CTLN2\u3092\u767a\u75c7\u3059\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/sub><\/sup><\/p>\n\n\n\n<p><sup>\u3010\u4e73\u5150\u671f\u3011<\/sup><br><sup><strong>\u30b7\u30c8\u30ea\u30f3\u6b20\u640d\u75c7\u306b\u3088\u308b\u65b0\u751f\u5150\u809d\u5185\u80c6\u6c41\u3046\u3063\u6ede<\/strong><\/sup><br>\u3000\u3000<sup><strong>NICCD; neonatal intrahepatic cholestasis caused by citrin deficiency<\/strong><br>\u3010\u5e7c\u5150\u671f\u304b\u3089\u5150\u7ae5\u671f\u3011<\/sup><br><sup><strong>\u30b7\u30c8\u30ea\u30f3\u6b20\u640d\u75c7\u306b\u3088\u308b\u767a\u80b2\u4e0d\u826f\u304a\u3088\u3073\u8102\u8cea\u7570\u5e38\u75c7<\/strong><\/sup><br>\u3000\u3000<sup><strong>FTTDCD; <strong>failure to thrive and dyslipidemia caused by citrin deficiency<\/strong><\/strong><br>\u3010\u601d\u6625\u671f\u304b\u3089\u6210\u4eba\u3011<\/sup><br><sup><strong>\u6210\u4eba\u767a\u75c7\u30b7\u30c8\u30eb\u30ea\u30f3\u8840\u75c7II\u578b<\/strong><\/sup><br>\u3000\u3000<sup><strong>CTLN2; adult-onset citrullinemia type II<\/strong><\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u30b7\u30c8\u30ea\u30f3\u6b20\u640d\u75c7\uff08Citrin Deficiency, CD\uff09\u306f\u3001<strong>SLC25A13<\/strong>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u4ee3\u8b1d\u7570\u5e38\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u819c\u306b\u5b58\u5728\u3059\u308b\u30a2\u30b9\u30d1\u30e9\u30ae\u30f3\u9178\/\u30b0\u30eb\u30bf\u30df\u30f3\u9178\u8f38\u9001\u4f53\uff08Aspartate\/Glutamate Carrier 2, AGC2\uff09\u3067\u3042\u308b<strong>\u30b7\u30c8\u30ea\u30f3<\/strong>\u3092\u4f5c\u308b\u50cd\u304d\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>CD\u306f\u3001\u767a\u75c7\u5e74\u9f62\u306b\u3088\u3063\u3066<strong>\u65b0\u751f\u5150\u671f\u809d\u5185\u80c6\u6c41\u3046\u3063\u6ede\u75c7\uff08Neonatal Intrahepatic Cholestasis due to Citrin Deficiency, NICCD\uff09<\/strong>\u3001<strong>\u30b7\u30c8\u30ea\u30f3\u6b20\u640d\u75c7\u306b\u3088\u308b\u767a\u80b2\u4e0d\u826f\u30fb\u8102\u8cea\u7570\u5e38\u75c7\uff08Failure to Thrive and Dyslipidemia due to Citrin Deficiency, FTTDCD\uff09<\/strong>\u3001\u6210\u4eba\u767a\u75c7\u578bII\u578b\u30b7\u30c8\u30eb\u30ea\u30f3\u8840\u75c7\uff08Adult-Onset Type II Citrullinemia, CTLN2\uff09\u306e3\u3064\u306e\u75c5\u578b\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>NICCD\u306f\u65b0\u751f\u5150\u671f\u306b\u809d\u6a5f\u80fd\u969c\u5bb3\u3068\u3057\u3066\u73fe\u308c\u3001\u591a\u304f\u306e\u5834\u54081\u5e74\u4ee5\u5185\u306b\u81ea\u7136\u56de\u5fa9\u3057\u307e\u3059\u304c\u3001\u4e00\u90e8\u306e\u60a3\u8005\u306f\u305d\u306e\u5f8c\u3001\u767a\u80b2\u4e0d\u826f\u3084\u8102\u8cea\u7570\u5e38\uff08FTTDCD\uff09\u3092\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u4e00\u90e8\u306e\u6210\u4eba\u306fCTLN2\u3092\u767a\u75c7\u3057\u3001\u518d\u767a\u6027\u306e\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\u306b\u3088\u308a\u3001\u610f\u8b58\u969c\u5bb3\u3001\u8208\u596e\u3001\u653b\u6483\u6027\u3001\u3051\u3044\u308c\u3093\u3001\u660f\u7761\u306a\u3069\u306e\u795e\u7d4c\u7cbe\u795e\u75c7\u72b6\u3092\u5448\u3057\u307e\u3059\u3002\u91cd\u75c7\u306e\u5834\u5408\u3001\u8133\u6d6e\u816b\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u751f\u547d\u3092\u8105\u304b\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u304b\u3064\u3066\u65e5\u672c\u3092\u4e2d\u5fc3\u3068\u3059\u308b\u6771\u30a2\u30b8\u30a2\u306b\u591a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u73fe\u5728\u3067\u306f\u4e16\u754c\u4e2d\u3067\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u5730\u57df\u3054\u3068\u306b\u7570\u306a\u308bSLC25A13\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>\u30b7\u30c8\u30ea\u30f3\u6b20\u640d\u75c7\u306f\u3001\u65e5\u672c\u3084\u6771\u30a2\u30b8\u30a2\u306e\u56fd\u3005\u3067\u6700\u3082\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u56fd\u3054\u3068\u306e<strong>SLC25A13\u907a\u4f1d\u5b50\u306e\u4fdd\u56e0\u8005\uff08\u5909\u7570\u3092\u6301\u3064\u304c\u75c7\u72b6\u304c\u51fa\u306a\u3044\u4eba\uff09\u306e\u5272\u5408<\/strong>\u306f\u3001\u65e5\u672c\u306769\u4eba\u306b1\u4eba\u3001\u4e2d\u56fd\u306779\u4eba\u306b1\u4eba\u3001\u53f0\u6e7e\u306798\u4eba\u306b1\u4eba\u3001\u97d3\u56fd\u306750\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u30d9\u30c8\u30ca\u30e0\u3067\u306f31\u4eba\u306b1\u4eba\u3001\u30b7\u30f3\u30ac\u30dd\u30fc\u30eb\u3067\u306f41\u4eba\u306b1\u4eba\u3068\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u5730\u57df\u306b\u3088\u3063\u3066\u983b\u5ea6\u306e\u3070\u3089\u3064\u304d\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u30c7\u30fc\u30bf\u3092\u3082\u3068\u306b\u3059\u308b\u3068\u3001\u6771\u30a2\u30b8\u30a2\u306e\u4e00\u90e8\u306e\u5730\u57df\u3067\u306f\u3001\u4e21\u89aa\u3068\u3082\u306bSLC25A13\u907a\u4f1d\u5b50\u5909\u7570\u3092\u6301\u3064\u78ba\u7387\u306f\u7d040.08%\uff081,250\u7d44\u306b1\u7d44\u306e\u5272\u5408\uff09\u3068\u63a8\u5b9a\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u65e5\u672c\u3067\u306eCD\u306e\u767a\u75c7\u7387\u306f<strong>\u7d0417,000\u4eba\u306b1\u4eba<\/strong>\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u8fd1\u5e74\u3067\u306f\u4e16\u754c\u4e2d\u3067\u60a3\u8005\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u6771\u30a2\u30b8\u30a2\u4ee5\u5916\u3067\u3082\u3055\u307e\u3056\u307e\u306a\u907a\u4f1d\u7684\u5909\u7570\u304c\u78ba\u8a8d\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>\u30b7\u30c8\u30ea\u30f3\u6b20\u640d\u75c7\u306f\u3001SLC25A13\u907a\u4f1d\u5b50\u306e\u4e21\u65b9\u306b\u5909\u7570\u304c\u3042\u308b\u5834\u5408\u306b\u767a\u75c7\u3059\u308b\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u75be\u60a3\uff08Autosomal Recessive Disorder\uff09<strong>\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f<\/strong>7\u756a\u67d3\u8272\u4f53\uff087q21.3\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u819c\u306e\u30a2\u30b9\u30d1\u30e9\u30ae\u30f3\u9178\/\u30b0\u30eb\u30bf\u30df\u30f3\u9178\u8f38\u9001\u4f53\uff08AGC2\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30b7\u30c8\u30ea\u30f3\u306e\u6b20\u640d\u306b\u3088\u308a\u3001\u30de\u30ec\u30fc\u30c8-\u30a2\u30b9\u30d1\u30e9\u30ae\u30f3\u9178\u30b7\u30e3\u30c8\u30eb\uff08Malate-Aspartate Shuttle\uff09\u304c\u6b63\u5e38\u306b\u6a5f\u80fd\u3057\u306a\u304f\u306a\u308a\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u4ee3\u8b1d\u7570\u5e38\u304c\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c3f\u7d20\u56de\u8def\uff08Urea Cycle\uff09\u306e\u7570\u5e38<\/strong> \u2192 \u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7<\/li>\n\n\n\n<li><strong>\u7cd6\u65b0\u751f\uff08Gluconeogenesis\uff09\u306e\u4f4e\u4e0b<\/strong> \u2192 \u30a8\u30cd\u30eb\u30ae\u30fc\u4ee3\u8b1d\u306e\u7570\u5e38<\/li>\n\n\n\n<li><strong>\u89e3\u7cd6\u7cfb\uff08Glycolysis\uff09\u306e\u6291\u5236\u3068\u8102\u8cea\u4ee3\u8b1d\u306e\u4ea2\u9032<\/strong> \u2192 \u70ad\u6c34\u5316\u7269\u306e\u4ee3\u8b1d\u7570\u5e38<\/li>\n<\/ul>\n\n\n\n<p>\u305d\u306e\u305f\u3081\u3001\u60a3\u8005\u306f\u70ad\u6c34\u5316\u7269\u3092\u907f\u3051\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u3084\u8102\u8cea\u3092\u597d\u3080\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u3046\u3057\u305f\u4ee3\u8b1d\u7570\u5e38\u304c\u3001\u5e74\u9f62\u306b\u3088\u3063\u3066\u7570\u306a\u308b\u5f62\u3067\u75c7\u72b6\u3068\u3057\u3066\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<!-- CTA Button -->\n\n<figure class=\"cta-btn\">\n<div class=\"cta-img\">\n<img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2023\/03\/button_pc.png\" alt=\"\u539f\u56e0\">\n<\/div>\n<div class=\"button-1\">\n<img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2023\/03\/cta-btn-orng-2.png\">\n<img decoding=\"async\" class=\"button-2\" src=\"\/nipt\/wp-content\/uploads\/2023\/03\/cta-btn-down.png\" alt=\"blue-btn\">\n<\/div>\n<\/figure>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u65b0\u751f\u5150\u671f\u30fb\u4e73\u5150\u671f\uff08NICCD\u30fbFTTDCD\uff09<\/strong><\/h3>\n\n\n\n<p>\u65b0\u751f\u5150\u671f\u306b\u767a\u75c7\u3059\u308bNICCD\u3067\u306f\u3001\u9ec4\u75b8\u3084\u809d\u816b\u5927\uff08\u809d\u81d3\u306e\u816b\u308c\uff09\u3092\u4f34\u3046<strong>\u809d\u5185\u80c6\u6c41\u3046\u3063\u6ede<\/strong>\u304c\u4e3b\u306a\u75c7\u72b6\u3067\u3059\u3002\u4ee3\u8b1d\u7570\u5e38\u306b\u3088\u3063\u3066\u3001\u4f4e\u8840\u7cd6\u3001\u4f4e\u30bf\u30f3\u30d1\u30af\u8840\u75c7\u3001\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u4e00\u90e8\u306e\u4e73\u5150\u3067\u306f\u3001\u8102\u8cea\u7570\u5e38\u3084\u767a\u80b2\u4e0d\u826f\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08FTTDCD\uff09\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u6210\u4eba\u767a\u75c7\u578b\u30b7\u30c8\u30eb\u30ea\u30f3\u8840\u75c7II\u578b\uff08CTLN2\uff09<\/strong><\/h3>\n\n\n\n<p>\u6210\u4eba\u3067\u306f\u3001\u7e70\u308a\u8fd4\u3059<strong>\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7<\/strong>\u304c\u7279\u5fb4\u3067\u3059\u3002\u3053\u306e\u305f\u3081\u3001\u610f\u8b58\u969c\u5bb3\u3001\u8a18\u61b6\u969c\u5bb3\u3001\u8208\u596e\u3001\u653b\u6483\u6027\u3001\u591c\u9593\u305b\u3093\u5984\u306a\u3069\u306e\u795e\u7d4c\u7cbe\u795e\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002\u91cd\u75c7\u5316\u3059\u308b\u3068\u3051\u3044\u308c\u3093\u3084\u660f\u7761\u72b6\u614b\u306b\u81f3\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u9069\u5207\u306a\u6cbb\u7642\u304c\u306a\u3051\u308c\u3070\u8133\u6d6e\u816b\u306b\u3088\u3063\u3066\u6b7b\u4ea1\u3059\u308b\u53ef\u80fd\u6027\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u60a3\u8005\u306f\u3057\u3070\u3057\u3070\u70ad\u6c34\u5316\u7269\u3092\u907f\u3051\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u3084\u8102\u8cea\u3092\u591a\u304f\u542b\u3080\u98df\u54c1\u3092\u597d\u3080\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u611f\u67d3\u75c7\u3001\u624b\u8853\u3001\u30a2\u30eb\u30b3\u30fc\u30eb\u6442\u53d6\u3001\u7279\u5b9a\u306e\u85ac\u5264\u306a\u3069\u304c\u75c7\u72b6\u3092\u60aa\u5316\u3055\u305b\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\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>CD\u306e\u8a3a\u65ad\u306b\u306f\u3001<strong>\u8840\u6db2\u691c\u67fb\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3001\u4ee3\u8b1d\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0<\/strong>\u304c\u7528\u3044\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8840\u6db2\u691c\u67fb\u3067\u306f\u3001<strong>\u8840\u4e2d\u306e\u30b7\u30c8\u30eb\u30ea\u30f3\u6fc3\u5ea6\u306e\u4e0a\u6607<\/strong>\u3084\u3001CTLN2\u3067\u306f<strong>\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7<\/strong>\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3059\u3002NICCD\u3067\u306f\u809d\u6a5f\u80fd\u7570\u5e38\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f<strong>SLC25A13\u907a\u4f1d\u5b50\u306e\u5909\u7570\u89e3\u6790<\/strong>\u304c\u5fc5\u8981\u3067\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001NICCD\u3084CTLN2\u306e\u8a3a\u65ad\u304c\u78ba\u5b9a\u3055\u308c\u307e\u3059\u3002\u5c3f\u4e2d\u6709\u6a5f\u9178\u5206\u6790\u3084\u30a2\u30df\u30ce\u9178\u30d7\u30ed\u30d5\u30a1\u30a4\u30eb\u89e3\u6790\u3082\u88dc\u52a9\u7684\u306b\u7528\u3044\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u809d\u969c\u5bb3\u306e\u9032\u884c\u8a55\u4fa1\u306e\u305f\u3081\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u809d\u751f\u691c\u304c\u884c\u308f\u308c\u308b\u3053\u3068\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<h3 class=\"wp-block-heading\"><strong>\u65b0\u751f\u5150\u30fb\u4e73\u5150\u671f\u306e\u6cbb\u7642<\/strong><\/h3>\n\n\n\n<p>NICCD\u306e\u591a\u304f\u306f1\u5e74\u4ee5\u5185\u306b\u81ea\u7136\u56de\u5fa9\u3057\u307e\u3059\u304c\u3001\u6804\u990a\u7ba1\u7406\u304c\u91cd\u8981\u3067\u3059\u3002\u4e2d\u9396\u8102\u80aa\u9178\uff08Medium-Chain Triglyceride, MCT\uff09\u3092\u542b\u3080\u98df\u4e8b\u3092\u63a8\u5968\u3057\u3001\u4ee3\u8b1d\u7570\u5e38\u3092\u88dc\u3046\u305f\u3081\u306b\u30d3\u30bf\u30df\u30f3\u3084\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u9069\u5207\u306b\u6442\u53d6\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u6210\u4eba\uff08CTLN2\uff09\u306e\u6cbb\u7642<\/strong><\/h3>\n\n\n\n<p>CTLN2\u3067\u306f<strong>\u9ad8\u30bf\u30f3\u30d1\u30af\u30fb\u9ad8\u8102\u8cea\u30fb\u4f4e\u70ad\u6c34\u5316\u7269\u98df<\/strong>\u3092\u57fa\u672c\u3068\u3057\u3001\u4ee3\u8b1d\u30b9\u30c8\u30ec\u30b9\u3092\u8efd\u6e1b\u3057\u307e\u3059\u3002\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\u306e\u767a\u4f5c\u6642\u306b\u306f<strong>\u30ca\u30c8\u30ea\u30a6\u30e0\u30d9\u30f3\u30ba\u30aa\u30a8\u30fc\u30c8\uff08Sodium Benzoate\uff09\u3084\u30d5\u30a7\u30cb\u30eb\u916a\u9178\u30ca\u30c8\u30ea\u30a6\u30e0\uff08Sodium Phenylbutyrate\uff09\u3092\u6295\u4e0e\u3057\u3001\u91cd\u75c7\u4f8b\u3067\u306f\u900f\u6790<\/strong>\u3092\u884c\u3044\u307e\u3059\u3002<strong>\u809d\u79fb\u690d\u304c\u552f\u4e00\u306e\u6839\u672c\u7684\u6cbb\u7642<\/strong>\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>NICCD\u306f\u591a\u304f\u306e\u5834\u5408\u3001\u4e73\u5150\u671f\u306b\u56de\u5fa9\u3057\u307e\u3059\u304c\u3001\u4e00\u90e8\u306fFTTDCD\u3084CTLN2\u3078\u9032\u884c\u3057\u307e\u3059\u3002CTLN2\u306f\u6cbb\u7642\u304c\u9045\u308c\u308b\u3068\u81f4\u547d\u7684\u3067\u3059\u304c\u3001\u809d\u79fb\u690d\u306b\u3088\u3063\u3066\u4e88\u5f8c\u304c\u5927\u5e45\u306b\u6539\u5584\u3057\u307e\u3059\u3002\u9069\u5207\u306a\u98df\u4e8b\u7ba1\u7406\u3068\u6cbb\u7642\u306b\u3088\u308a\u3001\u9577\u671f\u7684\u306a\u795e\u7d4c\u75c7\u72b6\u306e\u9032\u884c\u3092\u9632\u3050\u3053\u3068\u304c\u53ef\u80fd\u3067\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\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1038\/srep29732\">Lin, WX., Zeng, HS., Zhang, ZH.&nbsp;<em>et al.<\/em>&nbsp;Molecular diagnosis of pediatric patients with citrin deficiency in China:&nbsp;<em>SLC25A13<\/em>&nbsp;mutation spectrum and the geographic distribution.&nbsp;<em>Sci Rep<\/em>&nbsp;<strong>6<\/strong>, 29732 (2016). https:\/\/doi.org\/10.1038\/srep29732<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1371\/journal.pone.0074544\">Song Y-Z, Zhang Z-H, Lin W-X, Zhao X-J, Deng M, Ma Y-L, et al. (2013)&nbsp;<em>SLC25A13<\/em>&nbsp;Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China. PLoS ONE 8(9): e74544. https:\/\/doi.org\/10.1371\/journal.pone.0074544<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/jimd.12772\">H\u00e4berle, J. (2024). Citrin deficiency\u2014The East\u2010side story.&nbsp;<em>Journal of Inherited Metabolic Disease<\/em>,&nbsp;<em>47<\/em>(6), 1129\u20131133. https:\/\/doi.org\/10.1002\/jimd.12772<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/S1096-7192(03)00140-9\">Kobayashi, K. (2003). Screening of nine SLC25A13 mutations: Their frequency in patients with citrin deficiency and high carrier rates in Asian populations.&nbsp;<em>Molecular Genetics and Metabolism<\/em>,&nbsp;<em>80<\/em>(3), 356\u2013359. https:\/\/doi.org\/10.1016\/S1096-7192(03)00140-9<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":29,"template":"page_gd.php","class_list":["post-33637","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\/33637","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":18,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33637\/revisions"}],"predecessor-version":[{"id":127664,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33637\/revisions\/127664"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33637"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}