{"id":136705,"date":"2026-09-08T12:23:15","date_gmt":"2026-09-08T03:23:15","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=136705"},"modified":"2026-09-08T12:23:15","modified_gmt":"2026-09-08T03:23:15","slug":"propionicacidemia-pcca","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/propionicacidemia-pcca\/","title":{"rendered":"\u30d7\u30ed\u30d4\u30aa\u30f3\u9178\u8840\u75c7"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u30d7\u30ed\u30d4\u30aa\u30f3\u9178\u8840\u75c7\u306f\u3001\u305f\u3093\u3071\u304f\u8cea\u306e\u4e00\u90e8\uff08\u30a4\u30bd\u30ed\u30a4\u30b7\u30f3\u3001\u30d0\u30ea\u30f3\u3001\u30e1\u30c1\u30aa\u30cb\u30f3\u3001\u30c8\u30ec\u30aa\u30cb\u30f3\uff09\u3084\u8102\u80aa\u3092\u5206\u89e3\u3059\u308b\u904e\u7a0b\u3067\u4f5c\u3089\u308c\u308b\u300c\u30d7\u30ed\u30d4\u30aa\u30f3\u9178\u300d\u3092\u51e6\u7406\u3067\u304d\u305a\u3001\u4f53\u306b\u305f\u307e\u3063\u3066\u3057\u307e\u3046\u75c5\u6c17\u3067\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001<strong>PCCA<\/strong> \u307e\u305f\u306f <strong>PCCB<\/strong> \u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u65b0\u751f\u5150\u671f\u306b\u3001\u54fa\u4e73\u4e0d\u826f\u30fb\u5614\u5410\u30fb\u610f\u8b58\u969c\u5bb3\u3068\u3044\u3046\u5f62\u3067\u6025\u6fc0\u306b\u767a\u75c7\u3059\u308b<\/strong>\u3053\u3068\u304c\u591a\u304f\u3001\u7dca\u6025\u306e\u5bfe\u5fdc\u304c\u5fc5\u8981\u3067\u3059\u3002\u65e5\u672c\u3067\u306f\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u5bfe\u8c61\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>PCCA<\/strong> \u3068 <strong>PCCB<\/strong> 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class=\"wp-block-paragraph\">\u9175\u7d20\u304c\u306f\u305f\u3089\u304b\u306a\u3044\u3068\u30d7\u30ed\u30d4\u30aa\u30f3\u9178\u3068\u305d\u306e\u95a2\u9023\u7269\u8cea\u304c\u4f53\u306b\u305f\u307e\u308a\u3001<strong>\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\uff08\u8840\u6db2\u304c\u9178\u6027\u306b\u306a\u308b\uff09<\/strong>\u3068<strong>\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7<\/strong>\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u8133\u306b\u5f37\u3044\u969c\u5bb3\u3092\u4e0e\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65b0\u751f\u5150\u671f\u767a\u75c7\u578b<\/strong>\uff1a\u751f\u5f8c\u6570\u65e5\u3067\u306e\u54fa\u4e73\u4e0d\u826f\u3001\u5614\u5410\u3001\u7b4b\u7dca\u5f35\u306e\u4f4e\u4e0b\u3001\u3051\u3044\u308c\u3093\u3001\u660f\u7761<\/li>\n\n\n\n<li><strong>\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\u3001\u30b1\u30c8\u30fc\u30b7\u30b9\u3001\u4f4e\u8840\u7cd6<\/strong><\/li>\n\n\n\n<li>\u6c4e\u8840\u7403\u6e1b\u5c11\uff08\u767d\u8840\u7403\u30fb\u8840\u5c0f\u677f\u306e\u6e1b\u5c11\uff09<\/li>\n\n\n\n<li><strong>\u9045\u767a\u578b<\/strong>\uff1a\u767a\u9054\u306e\u9045\u308c\u3001\u304f\u308a\u8fd4\u3059\u5614\u5410\u3001\u6210\u9577\u306e\u9045\u308c<\/li>\n\n\n\n<li>\u9577\u671f\u306e\u5408\u4f75\u75c7\uff1a<strong>\u5fc3\u7b4b\u75c7\u3001QT\u5ef6\u9577\u306a\u3069\u306e\u4e0d\u6574\u8108<\/strong>\u3001\u81b5\u708e\u3001\u8996\u795e\u7d4c\u840e\u7e2e\u3001\u6162\u6027\u814e\u81d3\u75c5<\/li>\n\n\n\n<li>\u767a\u9054\u306e\u9045\u308c\u3001\u904b\u52d5\u969c\u5bb3\uff08\u57fa\u5e95\u6838\u306e\u969c\u5bb3\u306b\u3088\u308b\uff09<\/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 class=\"wp-block-paragraph\">\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u3001\u8840\u6db2\u4e2d\u306eC3\uff08\u30d7\u30ed\u30d4\u30aa\u30cb\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\uff09\u304c\u9ad8\u3044\u3053\u3068\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u3002\u5c3f\u306e\u6709\u6a5f\u9178\u5206\u6790\u3067\u30e1\u30c1\u30eb\u30af\u30a8\u30f3\u9178\u30fb3-\u30d2\u30c9\u30ed\u30ad\u30b7\u30d7\u30ed\u30d4\u30aa\u30f3\u9178\u306e\u5897\u52a0\u3092\u78ba\u8a8d\u3057\u3001<strong>PCCA<\/strong> \u307e\u305f\u306f <strong>PCCB<\/strong> \u907a\u4f1d\u5b50\u306e\u89e3\u6790\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3057\u307e\u3059\u3002<strong>\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7\u3068\u306e\u533a\u5225<\/strong>\u304c\u5fc5\u8981\u3067\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>\u6025\u6027\u671f<\/strong>\uff1a\u305f\u3093\u3071\u304f\u8cea\u306e\u6442\u53d6\u3092\u4e00\u6642\u4e2d\u6b62\u3057\u3001\u9ad8\u30ab\u30ed\u30ea\u30fc\u8f38\u6db2\u3001\u30ab\u30eb\u30cb\u30c1\u30f3\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066<strong>\u8840\u6db2\u900f\u6790<\/strong>\u3067\u6bd2\u6027\u7269\u8cea\u3092\u9664\u53bb\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u6162\u6027\u671f<\/strong>\uff1a\u305f\u3093\u3071\u304f\u8cea\u3092\u5236\u9650\u3057\u305f\u98df\u4e8b\u7642\u6cd5\u3068\u3001\u5c02\u7528\u306e\u30d5\u30a9\u30fc\u30df\u30e5\u30e9<\/li>\n\n\n\n<li><strong>L-\u30ab\u30eb\u30cb\u30c1\u30f3\u306e\u88dc\u5145<\/strong><\/li>\n\n\n\n<li>\u8178\u5185\u7d30\u83cc\u304c\u4f5c\u308b\u30d7\u30ed\u30d4\u30aa\u30f3\u9178\u3092\u6e1b\u3089\u3059\u305f\u3081\u306e\u6297\u83cc\u85ac\uff08\u30e1\u30c8\u30ed\u30cb\u30c0\u30be\u30fc\u30eb\u306a\u3069\uff09<\/li>\n\n\n\n<li><strong>\u30b7\u30c3\u30af\u30c7\u30a4\u5bfe\u5fdc<\/strong>\uff1a\u4f53\u8abf\u304c\u60aa\u3044\u3068\u304d\u306f\u305f\u3081\u3089\u308f\u305a\u53d7\u8a3a\u3059\u308b<\/li>\n\n\n\n<li>\u91cd\u75c7\u4f8b\u3067\u306f<strong>\u809d\u79fb\u690d<\/strong>\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059<\/li>\n\n\n\n<li>\u5b9a\u671f\u7684\u306a\u5fc3\u30a8\u30b3\u30fc\u30fb\u5fc3\u96fb\u56f3\uff08\u5fc3\u7b4b\u75c7\u3068\u4e0d\u6574\u8108\u306e\u76e3\u8996\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 class=\"wp-block-paragraph\">\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>PCCA<\/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 class=\"wp-block-paragraph\">\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>PCCA<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u3080<strong>1,200\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u306b\u8abf\u3079\u3001<strong>\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059<\/strong>\u3002\u56fd\u5185\u306e\u691c\u67fb\u6240\u3067\u884c\u3044\u3001\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f5\u9031\u9593\u301c7\u9031\u9593\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\uff08228\u7a2e\u985e\uff09<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306f\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u304a\u5b50\u3055\u307e\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u3067\u306f\u3001\u3054\u592b\u5a66\u304c\u3053\u306e\u75be\u60a3\u306e\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u982c\u306e\u5185\u5074\u306e\u7c98\u819c\u304b\u3089\u8abf\u3079\u3001<strong>\u304a\u5b50\u3055\u307e\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u53ef\u80fd\u6027\u3092\u3001\u598a\u5a20\u524d\u3084\u51fa\u751f\u524d\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059<\/strong>\u3002<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <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 class=\"wp-block-paragraph\">\u30d7\u30ed\u30d4\u30aa\u30f3\u9178\u8840\u75c7\u306f <strong>PCCA<\/strong>\uff0813q32.3\uff09\u307e\u305f\u306f 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class=\"wp-block-paragraph\">\u84c4\u7a4d\u3057\u305f\u30d7\u30ed\u30d4\u30aa\u30cb\u30ebCoA\u306fN-\u30a2\u30bb\u30c1\u30eb\u30b0\u30eb\u30bf\u30df\u30f3\u9178\u5408\u6210\u9175\u7d20\uff08NAGS\uff09\u3092\u963b\u5bb3\u3057\u3001\u5c3f\u7d20\u30b5\u30a4\u30af\u30eb\u3092\u4e8c\u6b21\u7684\u306b\u969c\u5bb3\u3057\u3066<strong>\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7<\/strong>\u3092\u304d\u305f\u3059\u3002\u307e\u305f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6a5f\u80fd\u969c\u5bb3\u3092\u4ecb\u3057\u3066\u5fc3\u7b4b\u75c7\u30fb\u4e0d\u6574\u8108\u30fb\u81b5\u708e\u3092\u5f15\u304d\u8d77\u3053\u3059\u3002<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u6025\u6027\u5897\u60aa\u671f\u306e\u7ba1\u7406\u304c\u4e88\u5f8c\u3092\u898f\u5b9a\u3059\u308b\u3002<strong>\u30a2\u30f3\u30e2\u30cb\u30a2\u304c\u901f\u3084\u304b\u306b\u4f4e\u4e0b\u3057\u306a\u3044\u5834\u5408\u306f\u3001\u305f\u3081\u3089\u308f\u305a\u8840\u6db2\u6d44\u5316\u7642\u6cd5\u3078\u79fb\u884c\u3059\u308b<\/strong>\u3002\u9577\u671f\u7684\u306b\u306f\u3001\u4ee3\u8b1d\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u304c\u826f\u597d\u3067\u3082\u5fc3\u7b4b\u75c7\u30fbQT\u5ef6\u9577\u30fb\u6162\u6027\u814e\u81d3\u75c5\u304c\u9032\u884c\u3057\u3046\u308b\u70b9\u304c\u672c\u75c7\u306e\u7279\u5fb4\u3067\u3001\u5b9a\u671f\u7684\u306a\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\u3092\u8981\u3059\u308b\u3002<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u809d\u79fb\u690d\u306f\u4ee3\u8b1d\u7684\u30af\u30e9\u30a4\u30b7\u30b9\u306e\u983b\u5ea6\u3092\u6e1b\u5c11\u3055\u305b\u308b\u304c\u3001<strong>\u5fc3\u7b4b\u75c7\u3084\u795e\u7d4c\u5b66\u7684\u5408\u4f75\u75c7\u3092\u5b8c\u5168\u306b\u306f\u9632\u3052\u306a\u3044<\/strong>\uff08\u809d\u5916\u3067\u306e\u4ee3\u8b1d\u304c\u6b8b\u308b\u305f\u3081\uff09\u3002\u65e5\u672c\u3067\u306f\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u5bfe\u8c61\u75be\u60a3\u3067\u3042\u308a\u3001\u767a\u75c7\u524d\u8a3a\u65ad\u4f8b\u304c\u5897\u3048\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. \u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u6307\u6458\u3055\u308c\u307e\u3057\u305f\u3002<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">A. \u65e9\u304f\u898b\u3064\u304b\u3063\u305f\u3053\u3068\u3067\u3001\u767a\u75c7\u524d\u304b\u3089\u98df\u4e8b\u7642\u6cd5\u3068\u4f53\u8abf\u7ba1\u7406\u3092\u59cb\u3081\u3089\u308c\u307e\u3059\u3002\u3059\u3050\u306b\u5c02\u9580\u306e\u533b\u7642\u6a5f\u95a2\u3092\u53d7\u8a3a\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u3069\u3093\u306a\u3068\u304d\u306b\u60aa\u5316\u3057\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">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<strong>\u305f\u3081\u3089\u308f\u305a\u53d7\u8a3a<\/strong>\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u98df\u4e8b\u306f\u3069\u3046\u3057\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">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\u6210\u9577\u306b\u5fc5\u8981\u306a\u91cf\u3092\u78ba\u4fdd\u3057\u306a\u304c\u3089\u3001\u7ba1\u7406\u6804\u990a\u58eb\u3068\u4e00\u7dd2\u306b\u9032\u3081\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u5fc3\u81d3\u306e\u691c\u67fb\u306f\u306a\u305c\u5fc5\u8981\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">A. \u4ee3\u8b1d\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u304c\u826f\u597d\u3067\u3082\u3001\u5fc3\u7b4b\u75c7\u3084\u4e0d\u6574\u8108\u304c\u8d77\u3053\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3067\u3059\u3002\u5b9a\u671f\u7684\u306a\u5fc3\u30a8\u30b3\u30fc\u3068\u5fc3\u96fb\u56f3\u3092\u304a\u53d7\u3051\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u809d\u79fb\u690d\u3067\u6cbb\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">A. \u767a\u4f5c\u306e\u983b\u5ea6\u306f\u6e1b\u308a\u307e\u3059\u304c\u3001\u5fc3\u81d3\u3084\u795e\u7d4c\u306e\u5408\u4f75\u75c7\u3092\u5b8c\u5168\u306b\u306f\u9632\u3052\u307e\u305b\u3093\u3002\u9069\u5fdc\u306f\u614e\u91cd\u306b\u5224\u65ad\u3055\u308c\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>Lamhonwah AM, Barankiewicz TJ, Willard HF, et al. Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes. <em>Proc Natl Acad Sci U S A<\/em>. 1986;83(12):4864-4868.<\/li>\n\n\n\n<li>Baumgartner MR, H\u00f6rster F, Dionisi-Vici C, et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. <em>Orphanet J Rare Dis<\/em>. 2014;9:130.<\/li>\n\n\n\n<li>Shchelochkov OA, Carrillo N, Venditti C. Propionic Acidemia. In: <em>GeneReviews\u00ae<\/em>. University of Washington, Seattle.<\/li>\n\n\n\n<li>K\u00f6lker S, Valayannopoulos V, Burlina AB, et al. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. <em>J Inherit Metab Dis<\/em>. 2015;38(6):1059-1074.<\/li>\n\n\n\n<li>OMIM #606054 Propionic acidemia<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136705","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\/136705","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\/136705\/revisions"}],"predecessor-version":[{"id":137075,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136705\/revisions\/137075"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136705"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}