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class=\"wp-block-paragraph\">\u78ba\u5b9a\u8a3a\u65ad\u306f<strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\u3067\u884c\u3044\u3001\u3053\u306e\u75c5\u6c17\u3067\u306f <strong>SERAC1<\/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\u30023-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30b3\u30f3\u9178\u304c\u5897\u3048\u308b\u75c5\u6c17\u306f\u307b\u304b\u306b\u3082\u3042\u308b\u305f\u3081\u3001<strong>\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u304c\u3001\u6b63\u78ba\u306a\u8a3a\u65ad\u3068\u6b21\u306e\u304a\u5b50\u3055\u307e\u306e\u898b\u901a\u3057\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/strong>\u306a\u304a\u3001\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u3053\u306e\u75c5\u6c17\u306b\u6c17\u3065\u304f\u3053\u3068\u306f\u307b\u3068\u3093\u3069\u3042\u308a\u307e\u305b\u3093\u3002<\/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\u3053\u306e\u75c5\u6c17\u3092\u6839\u672c\u304b\u3089\u6cbb\u3059\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u6cbb\u7642\u3068\u3001\u304a\u5b50\u3055\u307e\u3068\u3054\u5bb6\u65cf\u306e\u751f\u6d3b\u3092\u652f\u3048\u308b\u652f\u63f4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<strong>\u5c0f\u5150\u795e\u7d4c\u79d1\u30fb\u8033\u9f3b\u79d1\u30fb\u6d88\u5316\u5668\u79d1\u30fb\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u306a\u3069\u3001\u8907\u6570\u306e\u5c02\u9580\u5bb6\u304c\u9023\u643a\u3057\u3066\u8a3a\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong><\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65b0\u751f\u5150\u671f\u306e\u7ba1\u7406<\/strong>\uff1a\u4f4e\u8840\u7cd6\u3092\u9632\u3050\u305f\u3081\u306e\u6804\u990a\u7ba1\u7406\u3068\u3001\u809d\u81d3\u306e\u306f\u305f\u3089\u304d\u306e\u898b\u5b88\u308a<\/li>\n\n\n\n<li><strong>\u805e\u3053\u3048\u3078\u306e\u5bfe\u5fdc<\/strong>\uff1a\u88dc\u8074\u5668\u3084\u4eba\u5de5\u5185\u8033\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002\u52b9\u679c\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308b\u305f\u3081\u3001\u533b\u5e2b\u3068\u3088\u304f\u76f8\u8ac7\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u30b8\u30b9\u30c8\u30cb\u30a2\u30fb\u3064\u3063\u3071\u308a\u3078\u306e\u5bfe\u5fdc<\/strong>\uff1a\u98f2\u307f\u85ac\u3084\u30dc\u30c4\u30ea\u30cc\u30b9\u6bd2\u7d20\u306e\u6ce8\u5c04\u306a\u3069\u3067\u3001\u3064\u3089\u3055\u3084\u59ff\u52e2\u306e\u5d29\u308c\u3092\u3084\u308f\u3089\u3052\u307e\u3059<\/li>\n\n\n\n<li><strong>\u6804\u990a\u3068\u98f2\u307f\u8fbc\u307f\u306e\u652f\u63f4<\/strong>\uff1a\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u80c3\u308d\u3046\u306a\u3069\u3067\u6804\u990a\u3092\u78ba\u4fdd\u3057\u3001\u8aa4\u56a5\u3092\u9632\u304e\u307e\u3059<\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3068\u7642\u80b2<\/strong>\uff1a\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u3001\u624b\u8a71\u3084\u7d75\u30ab\u30fc\u30c9\u306a\u3069\u3092\u4f7f\u3063\u305f\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u652f\u63f4<\/li>\n\n\n\n<li><strong>\u3051\u3044\u308c\u3093\u304c\u3042\u308b\u5834\u5408\u306e\u6cbb\u7642<\/strong>\u3001\u304a\u3088\u3073\u3054\u5bb6\u65cf\u3078\u306e\u5fc3\u7406\u7684\u30fb\u793e\u4f1a\u7684\u306a\u652f\u63f4<\/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>SERAC1<\/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>SERAC1<\/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\">\u3053\u306e\u75be\u60a3\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u305f\u3081\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\"><strong>SERAC1<\/strong>\uff08serine active site containing 1\uff09\u306f\u3001<strong>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u95a2\u9023\u5c0f\u80de\u4f53\u819c\uff08MAM\uff09\u306b\u5c40\u5728\u3059\u308b\u30ea\u30f3\u8102\u8cea\u30ea\u30e2\u30c7\u30ea\u30f3\u30b0\u9175\u7d20<\/strong>\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002\u6b20\u640d\u306b\u3088\u308a<strong>\u30db\u30b9\u30d5\u30a1\u30c1\u30b8\u30eb\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u306e\u30a2\u30b7\u30eb\u9396\u30ea\u30e2\u30c7\u30ea\u30f3\u30b0\u304c\u969c\u5bb3<\/strong>\u3055\u308c\u3001\u305d\u306e\u4e0b\u6d41\u306e\u30ab\u30eb\u30b8\u30aa\u30ea\u30d4\u30f3\u7d44\u6210\u306e\u5909\u5316\u3092\u901a\u3058\u3066\u547c\u5438\u9396\u6a5f\u80fd\u304c\u4f4e\u4e0b\u3059\u308b\u3002\u307e\u305f<strong>\u7d30\u80de\u5185\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u8f38\u9001\u306e\u969c\u5bb3<\/strong>\uff08\u30d5\u30a3\u30ea\u30d4\u30f3\u67d3\u8272\u3067\u306e\u904a\u96e2\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u84c4\u7a4d\uff09\u3082\u793a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">3-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30b3\u30f3\u9178\u5c3f\u75c7\u306e\u5206\u985e\u3067\u306f\u3001<strong>\u30ed\u30a4\u30b7\u30f3\u5206\u89e3\u7d4c\u8def\u306e\u9175\u7d20\u6b20\u640d\u306b\u3088\u308b\u4e00\u6b21\u6027\uff08AUH \u6b20\u640d\u75c7\u30011\u578b\uff09\u3068\u533a\u5225\u3055\u308c\u308b\u4e8c\u6b21\u6027\u306e3-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30b3\u30f3\u9178\u5c3f\u75c7<\/strong>\u306b\u5c5e\u3057\u3001TAZ\uff08\u30d0\u30fc\u30b9\u75c7\u5019\u7fa4\uff09\u3001OPA3\uff08\u30b3\u30b9\u30c6\u30d5\u75c7\u5019\u7fa4\uff09\u3001DNAJC19\u3001TMEM70\u3001CLPB 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class=\"wp-block-paragraph\"><strong>\u8868\u73fe\u578b\u306b\u306f\u5e45\u304c\u3042\u308b<\/strong>\u3002\u4e73\u5150\u671f\u767a\u75c7\u306e\u5178\u578b\u7684\u306a MEGDEL\u75c7\u5019\u7fa4\u304c\u5927\u534a\u3092\u5360\u3081\u308b\u304c\u3001<strong>\u65b0\u751f\u5150\u671f\u306e\u91cd\u3044\u809d\u969c\u5bb3\u304c\u524d\u9762\u306b\u51fa\u308b\u4f8b\u3084\u3001\u82e5\u5e74\u767a\u75c7\u306e\u8907\u5408\u578b\u907a\u4f1d\u6027\u75d9\u6027\u5bfe\u9ebb\u75fa\u3068\u3057\u3066\u73fe\u308c\u308b\u8efd\u75c7\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u308b<\/strong>\u3002\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u4ed6\u306e\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5\u306b\u3088\u308b\u30ea\u30fc\u75c7\u5019\u7fa4\uff08SURF1\u3001MT-ATP6 \u306a\u3069\uff09\u3001\u4ed6\u306e\u4e8c\u6b21\u60273-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30b3\u30f3\u9178\u5c3f\u75c7\u3001\u5148\u5929\u6027\u96e3\u8074\u3092\u4f34\u3046\u795e\u7d4c\u5909\u6027\u75be\u60a3\u304c\u6319\u304c\u308b\u3002<strong>\u3044\u305a\u308c\u3082\u81e8\u5e8a\u50cf\u304c\u91cd\u306a\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u304c\u78ba\u5b9a\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u4e0d\u53ef\u6b20\u3067\u3042\u308b\u3002<\/strong><\/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\u306b\u30014\u5206\u306e1\u306e\u78ba\u7387\u3067\u5909\u5316\u3092\u53d7\u3051\u7d99\u304c\u306a\u3044\u304a\u5b50\u3055\u307e\u306b\u306a\u308a\u307e\u3059\u3002<strong>\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u78ba\u5b9a\u3057\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. \u598a\u5a20\u4e2d\u306b\u5206\u304b\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306f\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u7570\u5e38\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u307b\u3068\u3093\u3069\u306a\u304f\u3001\u901a\u5e38\u306f\u751f\u307e\u308c\u3066\u304b\u3089\u75c7\u72b6\u3067\u6c17\u3065\u304b\u308c\u307e\u3059\u3002<\/strong>\u598a\u5a20\u4e2d\u306b\u77e5\u308b\u306b\u306f\u907a\u4f1d\u5b50\u306e\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u8a3a\u65ad\u304c\u3064\u3044\u3066\u3044\u308b\u5834\u5408\u3084\u3001\u3054\u592b\u5a66\u304c\u30ad\u30e3\u30ea\u30a2\u3068\u5206\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u96e3\u8074\u306f\u88dc\u8074\u5668\u3084\u4eba\u5de5\u5185\u8033\u3067\u6539\u5584\u3057\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u88dc\u8074\u5668\u3084\u4eba\u5de5\u5185\u8033\u3067\u805e\u3053\u3048\u3092\u88dc\u3046\u3053\u3068\u306f\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<strong>\u305f\u3060\u3057\u3001\u3053\u306e\u75c5\u6c17\u3067\u306f\u8133\u306e\u306f\u305f\u3089\u304d\u306b\u3082\u5f71\u97ff\u304c\u3042\u308b\u305f\u3081\u3001\u52b9\u679c\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u8033\u9f3b\u79d1\u3068\u5c0f\u5150\u795e\u7d4c\u79d1\u306e\u533b\u5e2b\u3068\u3088\u304f\u76f8\u8ac7\u3057\u3001\u624b\u8a71\u3084\u7d75\u30ab\u30fc\u30c9\u306a\u3069\u3001\u304a\u5b50\u3055\u307e\u306b\u5408\u3063\u305f\u4f1d\u3048\u5408\u3044\u306e\u65b9\u6cd5\u3092\u3042\u308f\u305b\u3066\u8003\u3048\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u540c\u3058\u907a\u4f1d\u5b50\u3067\u8efd\u3044\u75c5\u6c17\u3082\u3042\u308b\u3068\u805e\u304d\u307e\u3057\u305f\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u306f\u3044\u3002<strong>SERAC1 \u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u306f\u3001\u4e73\u5150\u671f\u304b\u3089\u96e3\u8074\u3068\u30b8\u30b9\u30c8\u30cb\u30a2\u304c\u9032\u3080 MEGDEL\u75c7\u5019\u7fa4\u304c\u591a\u304f\u3092\u5360\u3081\u307e\u3059\u304c\u3001\u5b66\u7ae5\u671f\u4ee5\u964d\u306b\u8db3\u306e\u3064\u3063\u3071\u308a\u3092\u4e3b\u306a\u75c7\u72b6\u3068\u3057\u3066\u59cb\u307e\u308b\u3001\u6bd4\u8f03\u7684\u3086\u3063\u304f\u308a\u9032\u3080\u578b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u3069\u306e\u3088\u3046\u306a\u7d4c\u904e\u306b\u306a\u308b\u304b\u306f\u5909\u5316\u306e\u7a2e\u985e\u3060\u3051\u3067\u306f\u4e88\u6e2c\u3057\u304d\u308c\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u3001\u5c02\u9580\u533b\u306b\u3088\u308b\u8a55\u4fa1\u304c\u5927\u5207\u3067\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>Wortmann SB, de Brouwer APM, Wevers RA, Morava E. SERAC1 Deficiency. In: Adam MP, et al., editors. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle; 1993-.<\/li>\n\n\n\n<li>OMIM #614739 3-Methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome; MEGDELS. Online Mendelian Inheritance in Man.<\/li>\n\n\n\n<li>Wortmann SB, Vaz FM, Gardeitchik T, et al. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. <em>Nat Genet<\/em>. 2012;44(7):797-802.<\/li>\n\n\n\n<li>Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, et al. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. <em>Ann Neurol<\/em>. 2017;82(6):1004-1015.<\/li>\n\n\n\n<li>Wortmann SB, Kluijtmans LA, Engelke UF, Wevers RA, Morava E. The 3-methylglutaconic acidurias: what&#8217;s new? <em>J Inherit Metab Dis<\/em>. 2012;35(1):13-22.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147580","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\/147580","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\/147580\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147580"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}