{"id":136679,"date":"2026-09-08T12:23:05","date_gmt":"2026-09-08T03:23:05","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=136679"},"modified":"2026-09-08T12:23:05","modified_gmt":"2026-09-08T03:23:05","slug":"carnitine-palmitoyltransferase-i-deficiency-cpt1a","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/carnitine-palmitoyltransferase-i-deficiency-cpt1a\/","title":{"rendered":"\u30ab\u30eb\u30cb\u30c1\u30f3\u30d1\u30eb\u30df\u30c8\u30a4\u30eb\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bcI\u6b20\u640d\u75c7"},"content":{"rendered":"\n<h2 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class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u30b1\u30c8\u30f3\u6027\u4f4e\u8840\u7cd6\u306e\u767a\u4f5c<\/strong>\uff08\u610f\u8b58\u304c\u3082\u3046\u308d\u3046\u3068\u3059\u308b\u3001\u3051\u3044\u308c\u3093\u3001\u660f\u7761\uff09<\/li>\n\n\n\n<li>\u809d\u81d3\u304c\u5927\u304d\u304f\u306a\u308b\u3001\u809d\u6a5f\u80fd\u306e\u7570\u5e38\uff08\u6025\u6027\u809d\u4e0d\u5168\u306b\u81f3\u308b\u3053\u3068\u304c\u3042\u308b\uff09<\/li>\n\n\n\n<li>\u767a\u4f5c\u306f<strong>\u611f\u67d3\u75c7\u3001\u5614\u5410\u3084\u4e0b\u75e2\u3001\u9577\u6642\u9593\u306e\u7d76\u98df<\/strong>\u3092\u304d\u3063\u304b\u3051\u306b\u8d77\u3053\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u5fc3\u7b4b\u75c7\u3084\u9aa8\u683c\u7b4b\u306e\u75c7\u72b6\u306f\u4f34\u3044\u307e\u305b\u3093<\/strong>\uff08CPT2\u6b20\u640d\u75c7\u3068\u306e\u9055\u3044\u3067\u3059\uff09<\/li>\n\n\n\n<li>\u767a\u4f5c\u3092\u8d77\u3053\u3057\u3066\u3044\u306a\u3044\u3068\u304d\u306f\u7121\u75c7\u72b6\u3067\u3001\u767a\u9054\u3082\u6b63\u5e38\u3067\u3059<\/li>\n\n\n\n<li>\u6bcd\u89aa\u304c\u598a\u5a20\u4e2d\u306b\u6025\u6027\u8102\u80aa\u809d\u3084HELLP\u75c7\u5019\u7fa4\u3092\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308b<\/li>\n\n\n<\/ul>\n\n\n\n<h2 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\u904a\u96e2\u30ab\u30eb\u30cb\u30c1\u30f3\uff08C0\uff09\u304c\u9ad8\u304f\u9577\u9396\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\u304c\u4f4e\u3044\uff08C0\/(C16+C18)\u6bd4\u306e\u4e0a\u6607\uff09\u3053\u3068\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u3002<strong>CPT1A<\/strong> \u907a\u4f1d\u5b50\u306e\u89e3\u6790\u3084\u3001\u57f9\u990a\u3057\u305f\u76ae\u819a\u306e\u7d30\u80de\u3067\u306e\u9175\u7d20\u6d3b\u6027\u306e\u6e2c\u5b9a\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7d76\u98df\u3092\u907f\u3051\u308b<\/strong>\uff08\u5e74\u9f62\u306b\u5fdc\u3058\u305f\u9593\u9694\u3067\u5fc5\u305a\u98df\u4e8b\u3092\u3068\u308b\u3002\u591c\u9593\u306b\u751f\u3067\u3093\u3077\u3093\u3092\u7528\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff09<\/li>\n\n\n\n<li><strong>\u30b7\u30c3\u30af\u30c7\u30a4\u5bfe\u5fdc<\/strong>\uff1a\u98df\u4e8b\u304c\u3068\u308c\u306a\u3044\u3068\u304d\u306f\u65e9\u3081\u306b\u53d7\u8a3a\u3057\u3001\u30d6\u30c9\u30a6\u7cd6\u306e\u70b9\u6ef4\u3092\u53d7\u3051\u308b<\/li>\n\n\n\n<li>\u9577\u9396\u8102\u80aa\u3092\u63a7\u3048\u3001<strong>\u4e2d\u9396\u8102\u80aa\u9178\uff08MCT\uff09<\/strong>\u3092\u7528\u3044\u305f\u98df\u4e8b\u7642\u6cd5<\/li>\n\n\n\n<li>\u767a\u4f5c\u6642\u306f\u30d6\u30c9\u30a6\u7cd6\u8f38\u6db2<\/li>\n\n\n\n<li><strong>\u30ab\u30eb\u30cb\u30c1\u30f3\u306e\u88dc\u5145\u306f\u539f\u5247\u884c\u3044\u307e\u305b\u3093<\/strong>\uff08\u3053\u306e\u75c5\u6c17\u3067\u306f\u30ab\u30eb\u30cb\u30c1\u30f3\u306f\u3080\u3057\u308d\u9ad8\u5024\u3067\u3059\uff09<\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>CPT1A<\/strong> \u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u767a\u75c7\u524d\u3084\u51fa\u751f\u524d\u306b\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u6b21\u306e2\u3064\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09<\/h3>\n\n\n\n<p>\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u306b\u3042\u305f\u308b\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u307e\u3068\u3081\u3066\u8aad\u307f\u53d6\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u89e3\u6790\u3092\u884c\u3063\u305f\u3046\u3048\u3067\u3001<strong>CPT1A<\/strong> 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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>CPT1\u6b20\u640d\u75c7\u306f <strong>CPT1A<\/strong>\uff0811q13.3\uff09\u306e\u4e21\u30a2\u30ec\u30eb\u5909\u7570\u306b\u3088\u308b\u3002CPT1A\u306f\u809d\u81d3\u30fb\u814e\u81d3\u306b\u767a\u73fe\u3059\u308b\u30a2\u30a4\u30bd\u30d5\u30a9\u30fc\u30e0\u3067\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5916\u819c\u306b\u304a\u3044\u3066\u9577\u9396\u30a2\u30b7\u30ebCoA\u3092\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\u3078\u5909\u63db\u3057\u3001\u30ab\u30eb\u30cb\u30c1\u30f3\u30b7\u30e3\u30c8\u30eb\u306e\u5f8b\u901f\u6bb5\u968e\u3092\u62c5\u3046\u3002<\/p>\n\n\n\n<p>\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\u5206\u6790\u3067\u306f<strong>\u904a\u96e2\u30ab\u30eb\u30cb\u30c1\u30f3\uff08C0\uff09\u9ad8\u5024\u3068\u9577\u9396\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\u4f4e\u5024<\/strong>\u3068\u3044\u3046\u3001\u4ed6\u306e\u8102\u80aa\u9178\u9178\u5316\u7570\u5e38\u75c7\u3068\u9006\u306e\u30d1\u30bf\u30fc\u30f3\u3092\u793a\u3059\u3002C0\/(C16+C18) \u6bd4\u304c\u8a3a\u65ad\u6307\u6a19\u3068\u306a\u308b\u3002<\/p>\n\n\n\n<p>CPT1A\u306f\u7b4b\u8089\u306b\u306f\u767a\u73fe\u3057\u306a\u3044\uff08\u7b4b\u8089\u306fCPT1B\u3092\u4f7f\u3046\uff09\u305f\u3081\u3001<strong>\u6a2a\u7d0b\u7b4b\u878d\u89e3\u75c7\u3084\u5fc3\u7b4b\u75c7\u3092\u4f34\u308f\u306a\u3044<\/strong>\u70b9\u304c\u3001CPT2\u6b20\u640d\u75c7\u3084VLCAD\u6b20\u640d\u75c7\u3068\u306e\u91cd\u8981\u306a\u9451\u5225\u70b9\u3067\u3042\u308b\u3002\u81e8\u5e8a\u50cf\u306f\u809d\u578b\uff08\u4f4e\u8840\u7cd6\u767a\u4f5c\u3001\u809d\u816b\u5927\u3001Reye\u69d8\u75c7\u5019\u7fa4\uff09\u306b\u9650\u3089\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u5317\u7c73\u5148\u4f4f\u6c11\u30fb\u30a4\u30cc\u30a4\u30c3\u30c8\u306b\u9ad8\u983b\u5ea6\u306ep.Pro479Leu\u5909\u7570\u304c\u77e5\u3089\u308c\u3001\u4e73\u5150\u7a81\u7136\u6b7b\u3068\u306e\u95a2\u9023\u304c\u8b70\u8ad6\u3055\u308c\u3066\u3044\u308b\u3002\u6bcd\u4f53\u304c\u30d8\u30c6\u30ed\u63a5\u5408\u4f53\u3067\u3042\u308b\u5834\u5408\u306e\u598a\u5a20\u5408\u4f75\u75c7\uff08AFLP\u3001HELLP\u75c7\u5019\u7fa4\uff09\u3082\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\u3093\u306a\u3068\u304d\u306b\u6c17\u3092\u3064\u3051\u308c\u3070\u3088\u3044\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u98df\u4e8b\u304c\u3068\u308c\u306a\u3044\u3068\u304d\u3001\u71b1\u304c\u51fa\u305f\u3068\u304d\u3001\u5614\u5410\u3084\u4e0b\u75e2\u304c\u7d9a\u304f\u3068\u304d\u3067\u3059\u3002\u65e9\u3081\u306b\u7cd6\u5206\u3092\u3068\u308a\u3001\u96e3\u3057\u3051\u308c\u3070\u53d7\u8a3a\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u591c\u9593\u306e\u7d76\u98df\u3082\u907f\u3051\u308b\u3079\u304d\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u5e74\u9f62\u306b\u3088\u3063\u3066\u5b89\u5168\u306b\u7a7a\u3051\u3089\u308c\u308b\u6642\u9593\u304c\u6c7a\u307e\u3063\u3066\u3044\u307e\u3059\u3002\u591c\u9593\u306b\u751f\u3067\u3093\u3077\u3093\u3092\u4f7f\u3046\u65b9\u6cd5\u304c\u6307\u793a\u3055\u308c\u308b\u3053\u3068\u3082\u3042\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. \u30ab\u30eb\u30cb\u30c1\u30f3\u3092\u98f2\u3080\u5fc5\u8981\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u3053\u306e\u75c5\u6c17\u3067\u306f\u3001\u30ab\u30eb\u30cb\u30c1\u30f3\u306f\u3080\u3057\u308d\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002\u539f\u5247\u3068\u3057\u3066\u88dc\u5145\u306f\u884c\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u904b\u52d5\u3057\u3066\u3082\u5927\u4e08\u592b\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u7b4b\u8089\u306e\u75c7\u72b6\u306f\u4f34\u308f\u306a\u3044\u75c5\u6c17\u306a\u306e\u3067\u3001\u901a\u5e38\u306e\u904b\u52d5\u306f\u53ef\u80fd\u3067\u3059\u3002\u305f\u3060\u3057\u9577\u6642\u9593\u306e\u7a7a\u8179\u3092\u4f34\u3046\u904b\u52d5\u306f\u907f\u3051\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u767a\u4f5c\u3092\u8d77\u3053\u3055\u306a\u3051\u308c\u3070\u666e\u901a\u306b\u6210\u9577\u3057\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u306f\u3044\u3002\u767a\u4f5c\u3092\u9632\u3052\u3066\u3044\u308c\u3070\u3001\u767a\u9054\u306f\u6b63\u5e38\u306b\u7d4c\u904e\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\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>IJlst L, Mandel H, Oostheim W, et al. Molecular basis of hepatic carnitine palmitoyltransferase I deficiency. <em>J Clin Invest<\/em>. 1998;102(3):527-531.<\/li>\n\n\n\n<li>Bennett MJ, Santani AB. Carnitine Palmitoyltransferase 1A Deficiency. In: <em>GeneReviews\u00ae<\/em>. University of Washington, Seattle.<\/li>\n\n\n\n<li>Gessner BD, Gillingham MB, Birch S, et al. Evidence for an association between infant mortality and a carnitine palmitoyltransferase 1A genetic variant. <em>Pediatrics<\/em>. 2010;126(5):945-951.<\/li>\n\n\n\n<li>OMIM #255120 CPT deficiency, hepatic, type IA<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136679","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\/136679","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\/136679\/revisions"}],"predecessor-version":[{"id":137049,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136679\/revisions\/137049"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136679"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}