{"id":147454,"date":"2026-11-03T03:46:27","date_gmt":"2026-11-02T18:46:27","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/propionicacidemia-pcca-pccb\/"},"modified":"2026-11-03T03:46:27","modified_gmt":"2026-11-02T18:46:27","slug":"propionicacidemia-pcca-pccb","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/propionicacidemia-pcca-pccb\/","title":{"rendered":"\u30d7\u30ed\u30d4\u30aa\u30f3\u9178\u8840\u75c7"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u30d7\u30ed\u30d4\u30aa\u30f3\u9178\u8840\u75c7\u306f\u3001<strong>\u305f\u3093\u3071\u304f\u8cea\u306a\u3069\u3092\u5206\u89e3\u3059\u308b\u9014\u4e2d\u3067\u3067\u304d\u308b\u300c\u30d7\u30ed\u30d4\u30aa\u30f3\u9178\u300d\u3092\u3046\u307e\u304f\u51e6\u7406\u3067\u304d\u305a\u3001\u4f53\u306b\u9178\u6027\u306e\u7269\u8cea\u304c\u305f\u307e\u3063\u3066\u3057\u307e\u3046\u5148\u5929\u4ee3\u8b1d\u7570\u5e38\u75c7\uff08\u6709\u6a5f\u9178\u4ee3\u8b1d\u7570\u5e38\u75c7\uff09<\/strong>\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>\uff0813q32\uff09\u307e\u305f\u306f <strong>PCCB<\/strong>\uff083q22\uff09\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u91cd\u3044\u578b\u3067\u306f\u3001<strong>\u751f\u307e\u308c\u3066\u6570\u65e5\u306e\u3046\u3061\u306b\u3001\u54fa\u4e73\u304c\u5f31\u3044\u30fb\u5410\u304f\u30fb\u3050\u3063\u305f\u308a\u3059\u308b\u30fb\u610f\u8b58\u304c\u60aa\u304f\u306a\u308b\u3068\u3044\u3063\u305f\u75c7\u72b6\u3067\u6025\u306b\u5177\u5408\u304c\u60aa\u304f\u306a\u308a\u307e\u3059<\/strong>\u3002\u4e00\u65b9\u3001<strong>\u75c7\u72b6\u304c\u8efd\u3044\u3001\u307e\u305f\u306f\u307b\u3068\u3093\u3069\u51fa\u306a\u3044\u307e\u307e\u6210\u9577\u3059\u308b\u65b9\u3082\u3044\u307e\u3059<\/strong>\u3002\u65e5\u672c\u3067\u306f\u3001<strong>\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff08\u751f\u307e\u308c\u3066\u3059\u3050\u306e\u8840\u6db2\u691c\u67fb\uff09\u306e\u5bfe\u8c61\u75be\u60a3<\/strong>\u306b\u306a\u3063\u3066\u304a\u308a\u3001\u75c7\u72b6\u304c\u51fa\u308b\u524d\u306b\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">PCCA \u3068 PCCB \u306f\u3001\u3069\u3061\u3089\u3082\u540c\u3058\u9175\u7d20\u306e\u90e8\u54c1\u3092\u3064\u304f\u308b\u907a\u4f1d\u5b50\u3067\u3001<strong>\u3069\u3061\u3089\u306e\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u3042\u3063\u3066\u3082\u540c\u3058\u30d7\u30ed\u30d4\u30aa\u30f3\u9178\u8840\u75c7\u306b\u306a\u308a\u307e\u3059<\/strong>\u3002\u75c5\u6c17\u306e\u91cd\u3055\u306f\u3001\u3069\u3061\u3089\u306e\u907a\u4f1d\u5b50\u304b\u3088\u308a\u3082\u3001<strong>\u9175\u7d20\u306e\u306f\u305f\u3089\u304d\u304c\u3069\u306e\u304f\u3089\u3044\u6b8b\u3063\u3066\u3044\u308b\u304b<\/strong>\u306b\u3088\u3063\u3066\u6c7a\u307e\u308a\u307e\u3059\u3002<strong>\u65e5\u672c\u3067\u306f\u3001PCCB \u907a\u4f1d\u5b50\u306e\u7279\u5b9a\u306e\u5909\u5316\u306b\u3088\u308b\u8efd\u75c7\u578b\u304c\u6bd4\u8f03\u7684\u591a\u3044\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>PCCA<\/strong> \u3068 <strong>PCCB<\/strong> \u306f\u3001<strong>\u300c\u30d7\u30ed\u30d4\u30aa\u30cb\u30ebCoA\u30ab\u30eb\u30dc\u30ad\u30b7\u30e9\u30fc\u30bc\u300d\u3068\u3044\u3046\u9175\u7d20<\/strong>\u306e2\u7a2e\u985e\u306e\u90e8\u54c1\u3092\u3064\u304f\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002\u3053\u306e\u9175\u7d20\u306f\u3001\u30d3\u30bf\u30df\u30f3\u306e\u4e00\u7a2e\u3067\u3042\u308b\u30d3\u30aa\u30c1\u30f3\u306e\u52a9\u3051\u3092\u501f\u308a\u3066\u306f\u305f\u3089\u304d\u307e\u3059\u3002<\/p>\n\n\n<p 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class=\"wp-block-paragraph\">\u304a\u7236\u3055\u307e\u30fb\u304a\u6bcd\u3055\u307e\u304c\u305d\u308c\u305e\u308c\u75c7\u72b6\u306e\u306a\u3044\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u3067\u3001\u305d\u306e\u4e21\u65b9\u304b\u3089\u5909\u5316\u3057\u305f\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3044\u3060\u3068\u304d\u306b\u767a\u75c7\u3057\u307e\u3059\uff08\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff09\u3002PCCA \u306e\u5909\u5316\u3068 PCCB \u306e\u5909\u5316\u30921\u3064\u305a\u3064\u6301\u3063\u3066\u3044\u3066\u3082\u767a\u75c7\u306f\u305b\u305a\u3001<strong>\u540c\u3058\u907a\u4f1d\u5b50\u306b\u7236\u65b9\u30fb\u6bcd\u65b9\u305d\u308c\u305e\u308c\u7531\u6765\u306e\u5909\u5316\u304c\u305d\u308d\u3063\u305f\u3068\u304d\u306b\u767a\u75c7\u3057\u307e\u3059<\/strong>\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n<ul 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class=\"wp-block-paragraph\">\u78ba\u5b9a\u8a3a\u65ad\u306f\u3001<strong>\u9175\u7d20\u6d3b\u6027\u306e\u6e2c\u5b9a<\/strong>\u3084<strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\u3067\u884c\u3044\u3001<strong>PCCA<\/strong> \u307e\u305f\u306f <strong>PCCB<\/strong> \u907a\u4f1d\u5b50\u306b\u7236\u65b9\u30fb\u6bcd\u65b9\u305d\u308c\u305e\u308c\u7531\u6765\u306e\u5909\u5316\u304c\u898b\u3064\u304b\u308a\u307e\u3059\u3002<strong>\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u304c\u308f\u304b\u308b\u3068\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u306e\u51fa\u751f\u524d\u691c\u67fb\u3084\u3054\u5bb6\u65cf\u306e\u30ad\u30e3\u30ea\u30a2\u691c\u67fb\u304c\u53ef\u80fd\u306b\u306a\u308a\u3001\u898b\u901a\u3057\u3092\u3088\u308a\u6b63\u3057\u304f\u304a\u4f1d\u3048\u3067\u304d\u307e\u3059\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u73fe\u6642\u70b9\u3067\u3001\u75c5\u6c17\u305d\u306e\u3082\u306e\u3092\u6839\u672c\u304b\u3089\u6cbb\u3059\u85ac\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u3057\u304b\u3057\u3001<strong>\u65e9\u304f\u898b\u3064\u3051\u3066\u98df\u4e8b\u7642\u6cd5\u3084\u85ac\u3092\u7d9a\u3051\u308b\u3053\u3068\u3067\u3001\u767a\u4f5c\u3092\u6e1b\u3089\u3057\u3001\u5408\u4f75\u75c7\u3092\u9632\u3050\u3053\u3068\u304c\u671f\u5f85\u3067\u304d\u307e\u3059<\/strong>\u3002\u6cbb\u7642\u306f\u5148\u5929\u4ee3\u8b1d\u7570\u5e38\u75c7\u306e\u5c02\u9580\u533b\u306e\u3082\u3068\u3067\u3001\u751f\u6daf\u306b\u308f\u305f\u3063\u3066\u7d9a\u3051\u307e\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6025\u6027\u671f\u306e\u6cbb\u7642<\/strong>\uff1a\u305f\u3093\u3071\u304f\u8cea\u3092\u3044\u3063\u305f\u3093\u6b62\u3081\u3001\u30d6\u30c9\u30a6\u7cd6\u306e\u70b9\u6ef4\u3067\u4f53\u306e\u5206\u89e3\u3092\u6291\u3048\u307e\u3059\u3002\u30a2\u30f3\u30e2\u30cb\u30a2\u304c\u975e\u5e38\u306b\u9ad8\u3044\u3068\u304d\u306f<strong>\u8840\u6db2\u6d44\u5316\u7642\u6cd5\uff08\u900f\u6790\uff09<\/strong>\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u98df\u4e8b\u7642\u6cd5<\/strong>\uff1a\u6210\u9577\u306b\u5fc5\u8981\u306a\u91cf\u3092\u5b88\u308a\u306a\u304c\u3089\u305f\u3093\u3071\u304f\u8cea\u3092\u8abf\u6574\u3057\u3001\u539f\u56e0\u3068\u306a\u308b\u30a2\u30df\u30ce\u9178\u3092\u9664\u3044\u305f\u7279\u6b8a\u30df\u30eb\u30af\u3092\u4f7f\u3044\u307e\u3059\u3002<strong>\u6804\u990a\u58eb\u3068\u76f8\u8ac7\u3057\u306a\u304c\u3089\u9032\u3081\u307e\u3059<\/strong><\/li>\n\n\n\n<li><strong>\u85ac\u7269\u7642\u6cd5<\/strong>\uff1a\u305f\u307e\u3063\u305f\u7269\u8cea\u306e\u6392\u51fa\u3092\u52a9\u3051\u308bL-\u30ab\u30eb\u30cb\u30c1\u30f3\u3001\u8178\u5185\u7d30\u83cc\u304c\u3064\u304f\u308b\u30d7\u30ed\u30d4\u30aa\u30f3\u9178\u3092\u6e1b\u3089\u3059\u6297\u83cc\u85ac\u3001\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\u306b\u5bfe\u3059\u308b\u30ab\u30eb\u30b0\u30eb\u30df\u30f3\u9178\u306a\u3069\u304c\u4f7f\u308f\u308c\u307e\u3059<\/li>\n\n\n\n<li><strong>\u4f53\u8abf\u3092\u304f\u305a\u3057\u305f\u3068\u304d\u306e\u5bfe\u5fdc\uff08\u30b7\u30c3\u30af\u30c7\u30a4\u5bfe\u7b56\uff09<\/strong>\uff1a\u767a\u71b1\u3084\u5614\u5410\u306e\u3068\u304d\u306f\u65e9\u3081\u306b\u53d7\u8a3a\u3057\u3001\u70b9\u6ef4\u306a\u3069\u3067\u60aa\u5316\u3092\u9632\u304e\u307e\u3059<\/li>\n\n\n\n<li><strong>\u809d\u79fb\u690d<\/strong>\uff1a\u767a\u4f5c\u3092\u304f\u308a\u8fd4\u3059\u91cd\u75c7\u4f8b\u3067\u306f\u9078\u629e\u80a2\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4ee3\u8b1d\u306e\u5b89\u5b9a\u304c\u671f\u5f85\u3067\u304d\u307e\u3059\u304c\u3001<strong>\u75c5\u6c17\u304c\u5b8c\u5168\u306b\u306a\u304f\u306a\u308b\u308f\u3051\u3067\u306f\u306a\u304f\u3001\u79fb\u690d\u306b\u4f34\u3046\u8ca0\u62c5\u3082\u3042\u308b\u305f\u3081\u614e\u91cd\u306b\u691c\u8a0e\u3057\u307e\u3059<\/strong><\/li>\n\n\n\n<li><strong>\u5fc3\u81d3\u30fb\u767a\u9054\u306e\u5b9a\u671f\u7684\u306a\u8a55\u4fa1\u3068\u3001\u7642\u80b2\u30fb\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4<\/strong><\/li>\n\n\n<\/ul>\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<p class=\"wp-block-paragraph\">\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>PCCA, PCCB<\/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\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\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<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, PCCB<\/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<p class=\"wp-block-paragraph\">\u30d7\u30ed\u30d4\u30aa\u30f3\u9178\u8840\u75c7\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u3067\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>\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/carrier-screening-1200\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c81,200\uff0b\u306e\u30da\u30fc\u30b8<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u30d7\u30ed\u30d4\u30aa\u30cb\u30ebCoA\u30ab\u30eb\u30dc\u30ad\u30b7\u30e9\u30fc\u30bc\uff08PCC\uff09\u306f\u3001<strong>PCCA \u304c\u30b3\u30fc\u30c9\u3059\u308b\u03b1\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\uff08\u30d3\u30aa\u30c1\u30f3\u7d50\u5408\u90e8\u4f4d\u3092\u3082\u3064\uff09\u3068 PCCB \u304c\u30b3\u30fc\u30c9\u3059\u308b\u03b2\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\uff08\u30ab\u30eb\u30dc\u30ad\u30b7\u30eb\u57fa\u8ee2\u79fb\u6d3b\u6027\u3092\u3082\u3064\uff09\u304b\u3089\u306a\u308b\u03b16\u03b26\u306e\u5341\u4e8c\u91cf\u4f53<\/strong>\u3067\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u3067\u30d7\u30ed\u30d4\u30aa\u30cb\u30ebCoA\u3092D-\u30e1\u30c1\u30eb\u30de\u30ed\u30cb\u30ebCoA\u3078\u5909\u63db\u3059\u308b\u3002\u6b20\u640d\u306b\u3088\u308a\u30d7\u30ed\u30d4\u30aa\u30cb\u30ebCoA\u304c\u84c4\u7a4d\u3057\u3001<strong>3-\u30d2\u30c9\u30ed\u30ad\u30b7\u30d7\u30ed\u30d4\u30aa\u30f3\u9178\u3001\u30e1\u30c1\u30eb\u30af\u30a8\u30f3\u9178\u3001\u30d7\u30ed\u30d4\u30aa\u30cb\u30eb\u30b0\u30ea\u30b7\u30f3\u3001\u30d7\u30ed\u30d4\u30aa\u30cb\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\u304c\u5897\u52a0<\/strong>\u3059\u308b\u3002<strong>\u30d7\u30ed\u30d4\u30aa\u30cb\u30ebCoA\u306fN-\u30a2\u30bb\u30c1\u30eb\u30b0\u30eb\u30bf\u30df\u30f3\u9178\u5408\u6210\u9175\u7d20\u3092\u963b\u5bb3\u3059\u308b\u305f\u3081\u5c3f\u7d20\u56de\u8def\u304c\u969c\u5bb3\u3055\u308c\u3001\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\u3092\u304d\u305f\u3059<\/strong>\u3002\u307e\u305f\u3001\u30e1\u30c1\u30eb\u30af\u30a8\u30f3\u9178\u306b\u3088\u308b\u30af\u30a8\u30f3\u9178\u56de\u8def\u306e\u969c\u5bb3\u306a\u3069\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u30a8\u30cd\u30eb\u30ae\u30fc\u4ee3\u8b1d\u969c\u5bb3\u304c\u5fc3\u7b4b\u75c7\u3084\u57fa\u5e95\u6838\u969c\u5bb3\u306b\u95a2\u4e0e\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>PCCA \u578b\u3068 PCCB \u578b\u306e\u9593\u3067\u81e8\u5e8a\u50cf\u306b\u660e\u78ba\u306a\u9055\u3044\u306f\u306a\u304f\u3001\u91cd\u75c7\u5ea6\u306f\u6b8b\u5b58\u9175\u7d20\u6d3b\u6027\u306b\u4f9d\u5b58\u3059\u308b<\/strong>\u3002\u03b2\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u306f\u03b1\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u3088\u308a\u904e\u5270\u306b\u5408\u6210\u3055\u308c\u308b\u305f\u3081\u3001PCCB \u306e\u30d8\u30c6\u30ed\u63a5\u5408\u4fdd\u56e0\u8005\u306e\u9175\u7d20\u6d3b\u6027\u306f\u6b63\u5e38\u306b\u8fd1\u304f\u3001PCCA \u4fdd\u56e0\u8005\u3088\u308a\u9175\u7d20\u5b66\u7684\u306a\u4fdd\u56e0\u8005\u8a3a\u65ad\u304c\u96e3\u3057\u3044\u3002<strong>\u65e5\u672c\u3067\u306f\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u767a\u898b\u3055\u308c\u308b\u4f8b\u306e\u591a\u304f\u304c PCCB \u306e p.Tyr435Cys\uff08Y435C\uff09\u3092\u3082\u3064\u8efd\u75c7\u578b\u3067\u3042\u308a\u3001\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u5c0e\u5165\u524d\u306b\u8003\u3048\u3089\u308c\u3066\u3044\u305f\u3088\u308a\u983b\u5ea6\u304c\u9ad8\u3044\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b<\/strong>\u3002\u8efd\u75c7\u578b\u3067\u3082\u6210\u9577\u5f8c\u306b\u5fc3\u7b4b\u75c7\u3084QT\u5ef6\u9577\u3092\u5448\u3057\u305f\u4f8b\u304c\u3042\u308a\u3001\u9577\u671f\u306e\u5fc3\u6a5f\u80fd\u8a55\u4fa1\u304c\u63a8\u5968\u3055\u308c\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u8840\u75c7\uff08<em>MMUT<\/em> \u307b\u304b\uff09\u3001\u591a\u7a2e\u30ab\u30eb\u30dc\u30ad\u30b7\u30e9\u30fc\u30bc\u6b20\u640d\u75c7\uff08<em>HLCS<\/em>\u3001<em>BTD<\/em>\uff09\u3001\u5c3f\u7d20\u30b5\u30a4\u30af\u30eb\u7570\u5e38\u75c7\u304c\u6319\u304c\u308b\u3002<strong>\u591a\u7a2e\u30ab\u30eb\u30dc\u30ad\u30b7\u30e9\u30fc\u30bc\u6b20\u640d\u75c7\u306f\u30d3\u30aa\u30c1\u30f3\u6295\u4e0e\u306b\u53cd\u5fdc\u3059\u308b\u306e\u306b\u5bfe\u3057\u3001\u30d7\u30ed\u30d4\u30aa\u30f3\u9178\u8840\u75c7\u306f\u30d3\u30aa\u30c1\u30f3\u3078\u306e\u53cd\u5fdc\u304c\u307b\u3068\u3093\u3069\u307f\u3089\u308c\u306a\u3044\u70b9\u304c\u91cd\u8981\u3067\u3042\u308b\u3002<\/strong>\u3044\u305a\u308c\u3082\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3042\u308a\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u78ba\u5b9a\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3084\u4fdd\u56e0\u8005\u8a3a\u65ad\u306e\u524d\u63d0\u3068\u306a\u308b\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u305f\u3081\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/strong>2\u5206\u306e1\u306e\u78ba\u7387\u3067\u3054\u4e21\u89aa\u3068\u540c\u3058\u30ad\u30e3\u30ea\u30a2\u3068\u306a\u308a\u30014\u5206\u306e1\u306e\u78ba\u7387\u3067\u5909\u5316\u3092\u53d7\u3051\u7d99\u304e\u307e\u305b\u3093\u3002<strong>\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u304c\u308f\u304b\u3063\u3066\u3044\u308c\u3070\u3001\u6b21\u306e\u598a\u5a20\u3067\u51fa\u751f\u524d\u691c\u67fb\u3092\u691c\u8a0e\u3067\u304d\u307e\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u898b\u3064\u304b\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u65e5\u672c\u3067\u306f\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u5bfe\u8c61\u75be\u60a3\u3067\u3001\u591a\u304f\u306f\u75c7\u72b6\u304c\u51fa\u308b\u524d\u306b\u898b\u3064\u304b\u308a\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u91cd\u3044\u578b\u3067\u306f\u7d50\u679c\u304c\u51fa\u308b\u524d\u306b\u767a\u75c7\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<strong>\u751f\u5f8c\u307e\u3082\u306a\u304f\u54fa\u4e73\u304c\u5f31\u3044\u3001\u5410\u304f\u3001\u3050\u3063\u305f\u308a\u3057\u3066\u3044\u308b\u306a\u3069\u306e\u69d8\u5b50\u304c\u3042\u308c\u3070\u3001\u3059\u3050\u306b\u53d7\u8a3a\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u300c\u8efd\u75c7\u578b\u300d\u3068\u8a00\u308f\u308c\u307e\u3057\u305f\u3002\u6cbb\u7642\u306f\u5fc5\u8981\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u65e5\u672c\u3067\u306f\u3001\u75c7\u72b6\u304c\u307b\u3068\u3093\u3069\u51fa\u306a\u3044\u8efd\u75c7\u578b\u304c\u6bd4\u8f03\u7684\u591a\u304f\u898b\u3064\u304b\u3063\u3066\u3044\u307e\u3059\u3002<strong>\u8efd\u75c7\u578b\u3067\u3082\u3001\u6210\u9577\u3057\u3066\u304b\u3089\u5fc3\u81d3\u306e\u5408\u4f75\u75c7\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u8a3a\u5bdf\u3068\u691c\u67fb\u3092\u7d9a\u3051\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong>\u6cbb\u7642\u306e\u5fc5\u8981\u6027\u3084\u5185\u5bb9\u306f\u3001\u4e3b\u6cbb\u533b\u3068\u76f8\u8ac7\u3057\u3066\u6c7a\u3081\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u666e\u6bb5\u306e\u751f\u6d3b\u3067\u6c17\u3092\u3064\u3051\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u6c7a\u3081\u3089\u308c\u305f\u98df\u4e8b\u7642\u6cd5\u3068\u304a\u85ac\u3092\u7d9a\u3051\u308b\u3053\u3068\u3001\u305d\u3057\u3066\u767a\u71b1\u30fb\u5614\u5410\u30fb\u98df\u6b32\u304c\u306a\u3044\u3068\u304d\u306b\u306f\u65e9\u3081\u306b\u53d7\u8a3a\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/strong>\u9577\u3044\u6642\u9593\u98df\u3079\u3089\u308c\u306a\u3044\u72b6\u614b\u306f\u767a\u4f5c\u306e\u304d\u3063\u304b\u3051\u306b\u306a\u308a\u307e\u3059\u3002\u4e3b\u6cbb\u533b\u304b\u3089\u4f53\u8abf\u3092\u304f\u305a\u3057\u305f\u3068\u304d\u306e\u5bfe\u5fdc\u3092\u66f8\u9762\u3067\u3082\u3089\u3063\u3066\u304a\u304f\u3068\u3001\u6551\u6025\u53d7\u8a3a\u306e\u969b\u306b\u3082\u5f79\u7acb\u3061\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306f\u4f55\u3092\u76f8\u8ac7\u3067\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u8a3a\u65ad\u306e\u610f\u5473\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u3001\u51fa\u751f\u524d\u691c\u67fb\u3084\u7740\u5e8a\u524d\u691c\u67fb\u306e\u9078\u629e\u80a2\u3001\u3054\u304d\u3087\u3046\u3060\u3044\u3084\u3054\u89aa\u65cf\u3078\u306e\u5f71\u97ff\u306a\u3069\u3092\u3054\u76f8\u8ac7\u3044\u305f\u3060\u3051\u307e\u3059\u3002\u5224\u65ad\u3092\u6025\u304c\u305b\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li>Shchelochkov OA, Carrillo N, Venditti C. Propionic Acidemia. In: Adam MP, et al., editors. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle; 1993-.<\/li>\n\n\n\n<li>OMIM #606054 Propionicacidemia. Online Mendelian Inheritance in Man.<\/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>Forny P, H\u00f6rster F, Ballhausen D, et al. Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision. <em>J Inherit Metab Dis<\/em>. 2021;44(3):566-592.<\/li>\n\n\n\n<li>Yorifuji T, Kawai M, Muroi J, et al. Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications. <em>Hum Genet<\/em>. 2002;111(2):161-165.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147454","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\/147454","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":0,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/147454\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147454"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}