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class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n\n<p>\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u3001\u9577\u9396\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\uff08C16\u3001C18:1\uff09\u304c\u8457\u660e\u306b\u9ad8\u304f\u3001\u904a\u96e2\u30ab\u30eb\u30cb\u30c1\u30f3\uff08C0\uff09\u304c\u4f4e\u3044\u3053\u3068\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u3002<strong>CPT2\u6b20\u640d\u75c7\u3068\u751f\u5316\u5b66\u7684\u6240\u898b\u304c\u4f3c\u3066\u3044\u308b<\/strong>\u305f\u3081\u3001<strong>SLC25A20<\/strong> \u907a\u4f1d\u5b50\u306e\u89e3\u6790\u306b\u3088\u308b\u78ba\u5b9a\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n\n<ul 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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>CACT\u6b20\u640d\u75c7\u306f <strong>SLC25A20<\/strong>\uff083p21.31\uff09\u306e\u4e21\u30a2\u30ec\u30eb\u5909\u7570\u306b\u3088\u308b\u3002CACT\u306f\u30ab\u30eb\u30cb\u30c1\u30f3\u30b7\u30e3\u30c8\u30eb\u306e\u7b2c2\u6bb5\u968e\u3092\u62c5\u3044\u3001CPT1\u304c\u751f\u6210\u3057\u305f\u9577\u9396\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\u3092\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u30de\u30c8\u30ea\u30c3\u30af\u30b9\u3078\u8f38\u9001\u3059\u308b\u3002<\/p>\n\n\n\n<p>\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\u5206\u6790\u3067\u306f<strong>\u9577\u9396\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\uff08C16\u3001C18\u3001C18:1\uff09\u306e\u8457\u660e\u9ad8\u5024\u3068\u904a\u96e2\u30ab\u30eb\u30cb\u30c1\u30f3\u4f4e\u5024<\/strong>\u3092\u793a\u3059\u304c\u3001\u3053\u306e\u30d1\u30bf\u30fc\u30f3\u306f<strong>CPT2\u6b20\u640d\u75c7\u3068\u9451\u5225\u56f0\u96e3<\/strong>\u3067\u3042\u308b\u3002\u4e21\u8005\u306e\u533a\u5225\u306b\u306f\u907a\u4f1d\u5b50\u89e3\u6790\u307e\u305f\u306f\u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a\u3092\u8981\u3059\u308b\u3002<\/p>\n\n\n\n<p>\u8102\u80aa\u9178\u9178\u5316\u7570\u5e38\u75c7\u306e\u306a\u304b\u3067\u3082\u6700\u3082\u91cd\u75c7\u5ea6\u304c\u9ad8\u304f\u3001<strong>\u65b0\u751f\u5150\u671f\u767a\u75c7\u4f8b\u306e\u4e88\u5f8c\u306f\u4e0d\u826f<\/strong>\u3067\u3042\u308b\u3002\u84c4\u7a4d\u3057\u305f\u9577\u9396\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\u304c\u5fc3\u7b4b\u306e\u30a4\u30aa\u30f3\u30c1\u30e3\u30cd\u30eb\u3092\u963b\u5bb3\u3057\u3001\u81f4\u6b7b\u6027\u4e0d\u6574\u8108\u3092\u60f9\u8d77\u3059\u308b\u3053\u3068\u304c\u75c5\u614b\u306e\u4e2d\u5fc3\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306e\u8981\u8ae6\u306f\u7570\u5316\u306e\u5fb9\u5e95\u7684\u306a\u56de\u907f\u3067\u3001\u30b7\u30c3\u30af\u30c7\u30a4\u306b\u306f\u8e8a\u8e87\u306a\u304f\u9ad8\u6fc3\u5ea6\u30d6\u30c9\u30a6\u7cd6\u8f38\u6db2\u3092\u958b\u59cb\u3059\u308b\u3002\u30ab\u30eb\u30cb\u30c1\u30f3\u88dc\u5145\u306f\u9577\u9396\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\u306e\u7523\u751f\u3092\u5897\u3084\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u3001\u305d\u306e\u9069\u5fdc\u306b\u306f\u8b70\u8ad6\u304c\u3042\u308b\u3002\u30c8\u30ea\u30d8\u30d7\u30bf\u30ce\u30a4\u30f3\u306e\u6709\u52b9\u6027\u304c\u5831\u544a\u3055\u308c\u3066\u3044\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. \u3069\u306e\u304f\u3089\u3044\u53b3\u683c\u306b\u7d76\u98df\u3092\u907f\u3051\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u3053\u306e\u75c5\u6c17\u3067\u306f\u3068\u304f\u306b\u53b3\u683c\u306a\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u3002\u4e73\u5150\u671f\u306f\u591c\u9593\u3082\u542b\u3081\u3066\u983b\u56de\u306e\u6804\u990a\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002\u62c5\u5f53\u306e\u5148\u751f\u306e\u6307\u793a\u306b\u5f93\u3063\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u4f53\u8abf\u304c\u60aa\u3044\u3068\u304d\u306f\u3069\u3046\u3059\u308c\u3070\u3088\u3044\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. <strong>\u305f\u3081\u3089\u308f\u305a\u3059\u3050\u306b\u53d7\u8a3a\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/strong>\u98df\u4e8b\u304c\u3068\u308c\u306a\u3044\u3068\u304d\u306f\u3001\u65e9\u671f\u306b\u30d6\u30c9\u30a6\u7cd6\u306e\u70b9\u6ef4\u304c\u5fc5\u8981\u3067\u3059\u3002\u7dca\u6025\u6642\u306e\u5bfe\u5fdc\u3092\u66f8\u3044\u305f\u66f8\u9762\uff08\u7dca\u6025\u6642\u30ab\u30fc\u30c9\uff09\u3092\u5e38\u306b\u643a\u5e2f\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u4e0d\u6574\u8108\u304c\u5371\u967a\u3068\u805e\u304d\u307e\u3057\u305f\u3002<\/h3>\n\n\n\n<p>A. \u305f\u307e\u3063\u305f\u7269\u8cea\u304c\u5fc3\u81d3\u306e\u306f\u305f\u3089\u304d\u306b\u5f71\u97ff\u3057\u3001\u5371\u967a\u306a\u4e0d\u6574\u8108\u3092\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5b9a\u671f\u7684\u306a\u5fc3\u96fb\u56f3\u306e\u78ba\u8a8d\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. CPT2\u6b20\u640d\u75c7\u3068\u4f3c\u3066\u3044\u308b\u3068\u8a00\u308f\u308c\u307e\u3057\u305f\u3002<\/h3>\n\n\n\n<p>A. \u8840\u6db2\u691c\u67fb\u306e\u6240\u898b\u304c\u3088\u304f\u4f3c\u3066\u3044\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u533a\u5225\u3057\u307e\u3059\u3002\u6cbb\u7642\u306e\u8003\u3048\u65b9\u306f\u5171\u901a\u3059\u308b\u90e8\u5206\u304c\u591a\u304f\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u30ab\u30eb\u30cb\u30c1\u30f3\u306f\u98f2\u3093\u3060\u307b\u3046\u304c\u3088\u3044\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u3053\u306e\u75c5\u6c17\u3067\u306f\u614e\u91cd\u306a\u5224\u65ad\u304c\u5fc5\u8981\u3067\u3059\u3002\u81ea\u5df1\u5224\u65ad\u3067\u670d\u7528\u305b\u305a\u3001\u5fc5\u305a\u62c5\u5f53\u306e\u5148\u751f\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\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>Huizing M, Iacobazzi V, Ijlst L, et al. Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient. <em>Am J Hum Genet<\/em>. 1997;61(6):1239-1245.<\/li>\n\n\n\n<li>Rubio-Gozalbo ME, Bakker JA, Waterham HR, Wanders RJ. Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects. <em>Mol Aspects Med<\/em>. 2004;25(5-6):521-532.<\/li>\n\n\n\n<li>Vitoria I, Mart\u00edn-Hern\u00e1ndez E, Pe\u00f1a-Quintana L, et al. Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature. <em>JIMD Rep<\/em>. 2015;20:11-20.<\/li>\n\n\n\n<li>OMIM #212138 Carnitine-acylcarnitine translocase deficiency<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136704","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\/136704","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\/136704\/revisions"}],"predecessor-version":[{"id":137074,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136704\/revisions\/137074"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136704"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}