{"id":33606,"date":"2022-07-11T17:12:24","date_gmt":"2022-07-11T08:12:24","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33606"},"modified":"2026-04-28T13:05:46","modified_gmt":"2026-04-28T04:05:46","slug":"biotinidase-deficiency","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/biotinidase-deficiency\/","title":{"rendered":"\u30d3\u30aa\u30c1\u30cb\u30c0\u30fc\u30bc\u6b20\u640d\u75c7"},"content":{"rendered":"\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><sup>\u30d3\u30aa\u30c1\u30cb\u30c0\u30fc\u30bc\u6b20\u640d\u75c7\uff08BTD\u6b20\u640d\u75c7\uff09\u306f\u3001\u30d3\u30aa\u30c1\u30f3\u3092\u518d\u5229\u7528\u3059\u308b\u305f\u3081\u306b\u5fc5\u8981\u306a\u9175\u7d20\u304c\u6b20\u640d\u307e\u305f\u306f\u6a5f\u80fd\u4f4e\u4e0b\u3059\u308b\u3053\u3068\u306b\u3088\u308a\u767a\u75c7\u3059\u308b\u907a\u4f1d\u6027\u4ee3\u8b1d\u75be\u60a3\u3067\u3059\u3002\u767a\u4f5c\u3001\u7b4b\u529b\u4f4e\u4e0b\u3001\u76ae\u819a\u708e\u3001\u8131\u6bdb\u3001\u8996\u529b\u30fb\u8074\u529b\u969c\u5bb3\u306a\u3069\u306e\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u304c\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u30d3\u30aa\u30c1\u30f3\u88dc\u5145\u7642\u6cd5\u306b\u3088\u3063\u3066\u5065\u5eb7\u306a\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001BTD\u6b20\u640d\u75c7\u306e\u539f\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u6cd5\u3001\u305d\u3057\u3066\u4e88\u5f8c\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>BTD\uff5cBiotinidase Deficiency<\/p>\n\n\n\n<p><sup>Multiple Carboxylase Deficiency<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u30d3\u30aa\u30c1\u30cb\u30c0\u30fc\u30bc\u6b20\u640d\u75c7\uff08Biotinidase Deficiency, BTD\u6b20\u640d\u75c7\uff09\u306f\u3001BTD\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u5e0c\u5c11\u306a\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u306e\u4ee3\u8b1d\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u3067\u306f\u3001\u30d3\u30aa\u30c1\u30cb\u30c0\u30fc\u30bc\u3068\u3044\u3046\u9175\u7d20\u306e\u6d3b\u6027\u304c\u4f4e\u4e0b\u3059\u308b\u304b\u3001\u5b8c\u5168\u306b\u6b20\u640d\u3057\u3066\u3057\u307e\u3044\u307e\u3059\u3002\u30d3\u30aa\u30c1\u30cb\u30c0\u30fc\u30bc\u306f\u3001\u6c34\u6eb6\u6027\u306e\u30d3\u30bf\u30df\u30f3B\u7fa4\u306e\u4e00\u7a2e\u3067\u3042\u308b\u30d3\u30aa\u30c1\u30f3\u3092\u518d\u5229\u7528\u3059\u308b\u305f\u3081\u306b\u4e0d\u53ef\u6b20\u306a\u9175\u7d20\u3067\u3042\u308a\u3001\u30d3\u30aa\u30b7\u30c1\u30f3\u3084\u30d3\u30aa\u30c1\u30cb\u30eb\u30da\u30d7\u30c1\u30c9\u304b\u3089\u904a\u96e2\u30d3\u30aa\u30c1\u30f3\u3092\u5207\u308a\u51fa\u3059\u50cd\u304d\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002BTD\u6b20\u640d\u75c7\u306e\u60a3\u8005\u306f\u3001\u3053\u306e\u30ea\u30b5\u30a4\u30af\u30eb\u6a5f\u80fd\u304c\u640d\u306a\u308f\u308c\u308b\u305f\u3081\u3001\u4f53\u5185\u306e\u30d3\u30aa\u30c1\u30f3\u304c\u4e0d\u8db3\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u30d3\u30aa\u30c1\u30f3\u3092\u5fc5\u8981\u3068\u3059\u308b\u4ee3\u8b1d\u7d4c\u8def\u304c\u6b63\u5e38\u306b\u6a5f\u80fd\u305b\u305a\u3001\u795e\u7d4c\u7cfb\u3084\u76ae\u819a\u3001\u4ee3\u8b1d\u306b\u6df1\u523b\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u65e9\u671f\u306b\u8a3a\u65ad\u3055\u308c\u3001\u751f\u6daf\u306b\u308f\u305f\u3063\u3066\u30d3\u30aa\u30c1\u30f3\u3092\u88dc\u5145\u3059\u308c\u3070\u3001\u75c7\u72b6\u3092\u9632\u3050\u3053\u3068\u304c\u53ef\u80fd\u3067\u3042\u308a\u3001\u5065\u5eb7\u306a\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>BTD\u6b20\u640d\u75c7\u306f\u4e16\u754c\u5168\u4f53\u3067\u65b0\u751f\u5150\u7d046\u4e07\u4eba\u306b1\u4eba\u306e\u5272\u5408\u3067\u767a\u75c7\u3059\u308b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3088\u308a\u91cd\u75c7\u306a\u300c\u6df1\u523b\u578b\uff08Profound BTD Deficiency\uff09\u300d\u306f\u3001\u7d0413\u4e077\u5343\u4eba\u306b1\u4eba\u306e\u983b\u5ea6\u3067\u898b\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001BTD\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u3092\u6301\u3064\u4fdd\u56e0\u8005\uff08\u30ad\u30e3\u30ea\u30a2\uff09\u306e\u983b\u5ea6\u306f\u7d04120\u4eba\u306b1\u4eba\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5730\u57df\u306b\u3088\u3063\u3066\u907a\u4f1d\u5b50\u5909\u7570\u306e\u983b\u5ea6\u306b\u306f\u5dee\u304c\u3042\u308a\u3001\u4e00\u90e8\u306e\u96c6\u56e3\u3067\u306f\u30ad\u30e3\u30ea\u30a2\u306e\u5272\u5408\u304c\u3088\u308a\u9ad8\u3044\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u591a\u304f\u306e\u56fd\u3067\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff08Newborn Screening, NBS\uff09\u304c\u5c0e\u5165\u3055\u308c\u3001BTD\u6b20\u640d\u75c7\u306e\u65e9\u671f\u767a\u898b\u3068\u6cbb\u7642\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3057\u305f\u3002\u3057\u304b\u3057\u3001\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u304c\u7fa9\u52d9\u5316\u3055\u308c\u3066\u3044\u306a\u3044\u5730\u57df\u3067\u306f\u3001\u8a3a\u65ad\u306e\u9045\u308c\u306b\u3088\u3063\u3066\u91cd\u7be4\u306a\u75c7\u72b6\u304c\u767a\u751f\u3059\u308b\u3053\u3068\u304c\u4f9d\u7136\u3068\u3057\u3066\u5927\u304d\u306a\u8ab2\u984c\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>BTD\u6b20\u640d\u75c7\u306f\u30013\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff083p25\uff09\u306b\u4f4d\u7f6e\u3059\u308bBTD\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002\u901a\u5e38\u3001\u30d3\u30aa\u30c1\u30cb\u30c0\u30fc\u30bc\u9175\u7d20\u306f\u3001\u30d3\u30aa\u30c1\u30f3\u3092\u518d\u5229\u7528\u3059\u308b\u305f\u3081\u306b\u4e0d\u53ef\u6b20\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u304a\u308a\u3001\u30d3\u30aa\u30b7\u30c1\u30f3\u3084\u30d3\u30aa\u30c1\u30cb\u30eb\u30da\u30d7\u30c1\u30c9\u304b\u3089\u904a\u96e2\u30d3\u30aa\u30c1\u30f3\u3092\u5207\u308a\u51fa\u3059\u3053\u3068\u3067\u3001\u4f53\u5185\u3067\u7e70\u308a\u8fd4\u3057\u4f7f\u7528\u3067\u304d\u308b\u3088\u3046\u306b\u3057\u307e\u3059\u3002\u3057\u304b\u3057\u3001BTD\u6b20\u640d\u75c7\u3067\u306f\u3053\u306e\u30d7\u30ed\u30bb\u30b9\u304c\u6a5f\u80fd\u3057\u306a\u3044\u305f\u3081\u3001\u30d3\u30aa\u30c1\u30f3\u306e\u5229\u7528\u52b9\u7387\u304c\u8457\u3057\u304f\u4f4e\u4e0b\u3057\u3001\u4f53\u5185\u3067\u306e\u30d3\u30aa\u30c1\u30f3\u6b20\u4e4f\u304c\u767a\u751f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30d3\u30aa\u30c1\u30f3\u306f\u3001\u30a2\u30df\u30ce\u9178\u4ee3\u8b1d\u3084\u8102\u80aa\u9178\u5408\u6210\u3001\u7cd6\u65b0\u751f\u3068\u3044\u3063\u305f\u91cd\u8981\u306a\u4ee3\u8b1d\u7d4c\u8def\u3067\u6a5f\u80fd\u3059\u308b\u4ee5\u4e0b\u306e\u9175\u7d20\u306e\u88dc\u56e0\u5b50\u3068\u3057\u3066\u50cd\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>3-\u30e1\u30c1\u30eb\u30af\u30ed\u30c8\u30cb\u30eb-CoA\u30ab\u30eb\u30dc\u30ad\u30b7\u30e9\u30fc\u30bc\uff08MCC\uff09<\/li>\n\n\n\n<li>\u30d7\u30ed\u30d4\u30aa\u30cb\u30eb-CoA\u30ab\u30eb\u30dc\u30ad\u30b7\u30e9\u30fc\u30bc\uff08PCC\uff09<\/li>\n\n\n\n<li>\u30d4\u30eb\u30d3\u30f3\u9178\u30ab\u30eb\u30dc\u30ad\u30b7\u30e9\u30fc\u30bc\uff08PC\uff09<\/li>\n\n\n\n<li>\u30a2\u30bb\u30c1\u30eb-CoA\u30ab\u30eb\u30dc\u30ad\u30b7\u30e9\u30fc\u30bc\uff08ACC\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u9175\u7d20\u304c\u9069\u5207\u306b\u6a5f\u80fd\u3057\u306a\u3044\u3068\u3001\u6709\u5bb3\u306a\u4ee3\u8b1d\u7523\u7269\u304c\u84c4\u7a4d\u3057\u3001\u795e\u7d4c\u75c7\u72b6\u3084\u76ae\u819a\u75c7\u72b6\u3001\u4ee3\u8b1d\u7570\u5e38\u306a\u3069\u306e\u81e8\u5e8a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>BTD\u6b20\u640d\u75c7\u306f\u3001\u9175\u7d20\u6d3b\u6027\u306e\u7a0b\u5ea6\u306b\u3088\u3063\u3066\u300c\u6df1\u523b\u578b\uff08Profound\uff09\u300d\u3068\u300c\u90e8\u5206\u578b\uff08Partial\uff09\u300d\u306e2\u3064\u306e\u30bf\u30a4\u30d7\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6df1\u523b\u578b\uff08\u9175\u7d20\u6d3b\u6027 &lt;10%\uff09\u3067\u306f\u3001\u3051\u3044\u308c\u3093\u3001\u7b4b\u529b\u4f4e\u4e0b\uff08\u4f4e\u7dca\u5f35\uff09\u3001\u767a\u9054\u9045\u5ef6\u3001\u904b\u52d5\u5931\u8abf\uff08\u30d0\u30e9\u30f3\u30b9\u3084\u5354\u8abf\u904b\u52d5\u306e\u969c\u5bb3\uff09\u3001\u8996\u795e\u7d4c\u840e\u7e2e\u306b\u3088\u308b\u8996\u529b\u4f4e\u4e0b\u3001\u611f\u97f3\u6027\u96e3\u8074\u3001\u8131\u6bdb\uff08\u7121\u6bdb\u75c7\uff09\u3001\u6e7f\u75b9\u69d8\u306e\u76ae\u819a\u708e\u3001\u53cd\u5fa9\u6027\u306e\u611f\u67d3\u75c7\uff08\u30ab\u30f3\u30b8\u30c0\u75c7\u3092\u542b\u3080\uff09\u3001\u547c\u5438\u5668\u5408\u4f75\u75c7\u3001\u30b1\u30c8\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u306a\u3069\u306e\u4ee3\u8b1d\u7570\u5e38\u304c\u73fe\u308c\u307e\u3059\u3002\u6cbb\u7642\u305b\u305a\u306b\u653e\u7f6e\u3059\u308b\u3068\u3001\u75c7\u72b6\u306f\u6b21\u7b2c\u306b\u60aa\u5316\u3057\u3001\u660f\u7761\u72b6\u614b\u3084\u6b7b\u4ea1\u306b\u81f3\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u90e8\u5206\u578b\uff08\u9175\u7d20\u6d3b\u6027 10-30%\uff09\u3067\u306f\u3001\u4e00\u822c\u7684\u306b\u75c7\u72b6\u306f\u8efd\u5ea6\u3067\u3059\u304c\u3001\u611f\u67d3\u75c7\u3084\u7a7a\u8179\u6642\u3001\u4ee3\u8b1d\u30b9\u30c8\u30ec\u30b9\u306e\u5897\u52a0\u6642\u306b\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4e3b\u306a\u75c7\u72b6\u3068\u3057\u3066\u306f\u3001\u7b4b\u529b\u4f4e\u4e0b\u3001\u76ae\u819a\u708e\u3001\u4e00\u6642\u7684\u306a\u8131\u6bdb\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff08NBS\uff09\u3067\u306f\u3001\u4e7e\u71e5\u8840\u6db2\u30b9\u30dd\u30c3\u30c8\u3092\u7528\u3044\u305f\u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a\u306b\u3088\u308a\u3001\u30d3\u30aa\u30c1\u30cb\u30c0\u30fc\u30bc\u6d3b\u6027\u306e\u4f4e\u4e0b\u3092\u691c\u51fa\u3057\u307e\u3059\u3002\u78ba\u5b9a\u8a3a\u65ad\u306e\u305f\u3081\u306b\u306f\u3001BTD\u907a\u4f1d\u5b50\u306e\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u884c\u3044\u3001\u75c5\u7684\u5909\u7570\u3092\u7279\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u8a3a\u65ad\u306e\u88dc\u52a9\u3068\u3057\u3066\u3001\u5c3f\u4e2d\u306e3-\u30d2\u30c9\u30ed\u30ad\u30b7\u30a4\u30bd\u5409\u8349\u9178\u306e\u6392\u6cc4\u5897\u52a0\u3084\u3001\u8840\u6f3f\u4e2d\u306e3-\u30d2\u30c9\u30ed\u30ad\u30b7\u30a4\u30bd\u30d0\u30ec\u30ea\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\uff08C5-OH\uff09\u306e\u4e0a\u6607\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u81e8\u5e8a\u7684\u306b\u306f\u3001\u3051\u3044\u308c\u3093\u3001\u76ae\u819a\u708e\u3001\u8131\u6bdb\u3001\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3092\u5448\u3059\u308b\u4e73\u5150\u3067\u306fBTD\u6b20\u640d\u75c7\u3092\u7591\u3044\u3001\u4ed6\u306e\u591a\u30ab\u30eb\u30dc\u30ad\u30b7\u30e9\u30fc\u30bc\u6b20\u640d\u75c7\uff08\u30db\u30ed\u30ab\u30eb\u30dc\u30ad\u30b7\u30e9\u30fc\u30bc\u5408\u6210\u9175\u7d20\u6b20\u640d\u75c7\u306a\u3069\uff09\u3068\u306e\u9451\u5225\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>\u6cbb\u7642\u306e\u57fa\u672c\u306f\u3001\u30d3\u30aa\u30c1\u30f3\u306e\u88dc\u5145\u3067\u3059\u3002\u6df1\u523b\u578b\u3067\u306f\u3001\u751f\u6daf\u306b\u308f\u305f\u308a1\u65e55\uff5e20mg\u306e\u30d3\u30aa\u30c1\u30f3\u3092\u7d4c\u53e3\u6295\u4e0e\u3059\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u90e8\u5206\u578b\u3067\u306f\u3001\u75c7\u72b6\u306e\u6709\u7121\u306b\u5fdc\u3058\u30661\uff5e5mg\u306e\u30d3\u30aa\u30c1\u30f3\u3092\u88dc\u5145\u3059\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u30d3\u30aa\u30c1\u30f3\u7642\u6cd5\u306e\u52b9\u679c\u306f\u9ad8\u304f\u3001\u9069\u5207\u306a\u6642\u671f\u306b\u958b\u59cb\u3059\u308c\u3070\u795e\u7d4c\u75c7\u72b6\u306e\u767a\u751f\u3092\u9632\u3050\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u307e\u305f\u3001\u8131\u6bdb\u3084\u76ae\u819a\u75c7\u72b6\u3082\u901f\u3084\u304b\u306b\u6539\u5584\u3057\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u6cbb\u7642\u306e\u958b\u59cb\u304c\u9045\u308c\u305f\u5834\u5408\u3001\u611f\u97f3\u6027\u96e3\u8074\u3084\u8996\u795e\u7d4c\u840e\u7e2e\u306b\u3088\u308b\u8996\u529b\u969c\u5bb3\u306f\u4e0d\u53ef\u9006\u7684\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u6cbb\u7642\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u3092\u884c\u3046\u969b\u306b\u306f\u3001\u30d3\u30aa\u30c1\u30f3\u306e\u5438\u53ce\u3092\u59a8\u3052\u308b\u8981\u56e0\u306b\u3082\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002\u4f8b\u3048\u3070\u3001\u751f\u306e\u5375\u767d\u306b\u306f\u30d3\u30aa\u30c1\u30f3\u3068\u7d50\u5408\u3057\u5438\u53ce\u3092\u963b\u5bb3\u3059\u308b\u30a2\u30d3\u30b8\u30f3\uff08avidin\uff09\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u6442\u53d6\u3092\u907f\u3051\u308b\u3079\u304d\u3067\u3059\u3002\u307e\u305f\u3001\u5b9a\u671f\u7684\u306a\u4ee3\u8b1d\u30de\u30fc\u30ab\u30fc\u306e\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3001\u8074\u899a\u30fb\u8996\u899a\u306e\u691c\u67fb\u3001\u795e\u7d4c\u5b66\u7684\u8a55\u4fa1\u3092\u7d99\u7d9a\u7684\u306b\u884c\u3046\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306b\u3088\u308b\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u30d3\u30aa\u30c1\u30f3\u88dc\u5145\u7642\u6cd5\u304c\u884c\u308f\u308c\u308c\u3070\u3001BTD\u6b20\u640d\u75c7\u306e\u60a3\u8005\u306f\u5065\u5eb7\u306a\u767a\u9054\u3068\u901a\u5e38\u306e\u5bff\u547d\u3092\u671f\u5f85\u3067\u304d\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u6cbb\u7642\u304c\u9045\u308c\u308b\u3068\u3001\u4e0d\u53ef\u9006\u7684\u306a\u795e\u7d4c\u969c\u5bb3\uff08\u8a8d\u77e5\u6a5f\u80fd\u969c\u5bb3\u3001\u5931\u660e\u3001\u8074\u899a\u969c\u5bb3\uff09\u304c\u6b8b\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u4e16\u754c\u7684\u306b\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3092\u666e\u53ca\u3055\u305b\u308b\u3053\u3068\u304c\u3001\u91cd\u7be4\u306a\u5408\u4f75\u75c7\u3092\u9632\u3050\u305f\u3081\u306e\u91cd\u8981\u306a\u516c\u8846\u885b\u751f\u5bfe\u7b56\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-group references\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\">\u5f15\u7528\u6587\u732e\uff5cReferences<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.3390\/ijms241210239\">Liu, S., Zhang, Y., Deng, Z., He, H., Zheng, X., Hong, Q., &amp; Luo, X. (2023). Delayed biotin therapy in a child with atypical profound biotinidase deficiency: Late arrival of the truth and a lesson worth thinking. <em>International Journal of Molecular Sciences<\/em>, <em>24<\/em>(12), 10239. https:\/\/doi.org\/10.3390\/ijms241210239<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ymgme.2023.107560\">Tankeu, A. T., Van Winckel, G., Elmers, J., Jaccard, E., Superti-Furga, A., Wolf, B., &amp; Tran, C. (2023). Biotinidase deficiency: What have we learned in forty years? <em>Molecular Genetics and Metabolism<\/em>, <em>138<\/em>(4), 107560. https:\/\/doi.org\/10.1016\/j.ymgme.2023.107560<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1055\/s-0042-1757887\">Kannan, B., Navamani, H. K., Jayaseelan, V. P., &amp; Arumugam, P. (2023). A rare biotinidase deficiency in the pediatrics population: Genotype\u2013phenotype analysis. <em>Journal of Pediatric Genetics<\/em>, <em>12<\/em>(01), 001\u2013015. https:\/\/doi.org\/10.1055\/s-0042-1757887<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":32,"template":"page_gd.php","class_list":["post-33606","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\/33606","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":7,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33606\/revisions"}],"predecessor-version":[{"id":127721,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33606\/revisions\/127721"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33606"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}