{"id":33444,"date":"2022-07-10T17:05:27","date_gmt":"2022-07-10T08:05:27","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33444"},"modified":"2026-03-05T12:20:29","modified_gmt":"2026-03-05T03:20:29","slug":"3-hydroxy-3-methylglutaryl-coenzyme-a-lyase-deficiency","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/3-hydroxy-3-methylglutaryl-coenzyme-a-lyase-deficiency\/","title":{"rendered":"3-\u30d2\u30c9\u30ed\u30ad\u30b7-3-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30eb\u9178\u8840\u75c7"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>3-\u30d2\u30c9\u30ed\u30ad\u30b7-3-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30ea\u30ebCoA\u30ea\u30a2\u30fc\u30bc\u6b20\u640d\u75c7\uff08HMGCLD\uff09\u306f\u3001\u6975\u3081\u3066\u7a00\u306a\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u3067\u3042\u308a\u3001\u30b1\u30c8\u30f3\u4f53\u5408\u6210\u3068\u5206\u5c90\u9396\u30a2\u30df\u30ce\u9178\u30ed\u30a4\u30b7\u30f3\u306e\u4ee3\u8b1d\u306b\u95a2\u308f\u308bHMGCL\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u55aa\u5931\u5909\u7570\u306b\u8d77\u56e0\u3057\u307e\u3059\u3002HMGCL\u907a\u4f1d\u5b50\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u306b\u5b58\u5728\u3059\u308b3-\u30d2\u30c9\u30ed\u30ad\u30b7-3-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30ea\u30ebCoA\u30ea\u30a2\u30fc\u30bc\uff08HMG-CoA\u30ea\u30a2\u30fc\u30bc\uff09\u3068\u3044\u3046\u9175\u7d20\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u3053\u306e\u9175\u7d20\u306fHMG-CoA\u3092\u30a2\u30bb\u30c8\u9162\u9178\u3068\u30a2\u30bb\u30c1\u30ebCoA\u306b\u5206\u89e3\u3059\u308b\u5f79\u5272\u3092\u62c5\u3044\u307e\u3059\u3002\u3053\u306e\u4ee3\u8b1d\u7d4c\u8def\u306f\u3001\u8102\u80aa\u9178\u304b\u3089\u306e\u30a8\u30cd\u30eb\u30ae\u30fc\u7523\u751f\uff08\u30b1\u30c8\u30f3\u4f53\u5408\u6210\uff09\u304a\u3088\u3073\u30ed\u30a4\u30b7\u30f3\u306e\u5206\u89e3\u306b\u304a\u3044\u3066\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u3067\u306f\u3001\u30b1\u30c8\u30f3\u4f53\u5408\u6210\u306e\u969c\u5bb3\u306b\u3088\u308a\u3001\u98e2\u9913\u72b6\u614b\u3084\u611f\u67d3\u75c7\u306a\u3069\u306e\u4ee3\u8b1d\u30b9\u30c8\u30ec\u30b9\u6642\u306b\u6025\u6027\u4ee3\u8b1d\u5931\u8abf\u3092\u6765\u3057\u3001\u4f4e\u8840\u7cd6\u3001\u30b1\u30c8\u30f3\u4f53\u306e\u6b20\u4e4f\u3001\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u610f\u8b58\u969c\u5bb3\u3001\u75d9\u6523\u3001\u660f\u7761\u306b\u81f3\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u8a3a\u65ad\u3068\u7ba1\u7406\u306e\u9045\u308c\u306f\u91cd\u7be4\u306a\u795e\u7d4c\u5b66\u7684\u5f8c\u907a\u75c7\u3084\u6b7b\u4ea1\u306b\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u65e9\u671f\u306e\u8a3a\u65ad\u3068\u4ecb\u5165\u304c\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>HMGCLD\u306f\u975e\u5e38\u306b\u7a00\u3067\u3001\u51fa\u751f10\u4e07\u4eba\u3042\u305f\u308a\u306e\u6709\u75c5\u7387\u306f1\u672a\u6e80\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u8fd1\u89aa\u5a5a\u306e\u983b\u5ea6\u304c\u9ad8\u3044\u5730\u57df\u3001\u7279\u306b\u30b5\u30a6\u30b8\u30a2\u30e9\u30d3\u30a2\u3067\u306f\u767a\u75c7\u7387\u304c2\u500d\u4ee5\u4e0a\u306b\u9054\u3059\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u5168\u4e16\u754c\u7684\u306b\u306f\u6563\u767a\u7684\u306b\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u7279\u5b9a\u96c6\u56e3\u306b\u504f\u3063\u305f\u6d41\u884c\u50be\u5411\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u67d3\u8272\u4f531p36.11\u306b\u4f4d\u7f6e\u3059\u308bHMGCL\u907a\u4f1d\u5b50\u306e\u30db\u30e2\u63a5\u5408\u307e\u305f\u306f\u8907\u5408\u30d8\u30c6\u30ed\u63a5\u5408\u5909\u7570\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002HMG-CoA\u30ea\u30a2\u30fc\u30bc\u306f\u3001\u8102\u80aa\u9178\u306e\u03b2\u9178\u5316\u306b\u3088\u3063\u3066\u7523\u751f\u3055\u308c\u305f\u30a2\u30bb\u30c1\u30ebCoA\u3092HMG-CoA\u5408\u6210\u9175\u7d20\u3067HMG-CoA\u306b\u5909\u63db\u3057\u305f\u5f8c\u3001\u3053\u306eHMG-CoA\u3092\u30a2\u30bb\u30c8\u9162\u9178\u3068\u30a2\u30bb\u30c1\u30ebCoA\u306b\u5206\u89e3\u3057\u307e\u3059\u3002\u3053\u306e\u6700\u7d42\u6bb5\u968e\u306e\u9175\u7d20\u304c\u6b20\u640d\u3059\u308b\u3068\u3001\u30b1\u30c8\u30f3\u4f53\uff08\u30a2\u30bb\u30c8\u9162\u9178\u3001\u03b2-\u30d2\u30c9\u30ed\u30ad\u30b7\u916a\u9178\u3001\u30a2\u30bb\u30c8\u30f3\uff09\u306e\u7523\u751f\u304c\u3067\u304d\u306a\u304f\u306a\u308a\u3001\u98e2\u9913\u6642\u306e\u4ee3\u66ff\u30a8\u30cd\u30eb\u30ae\u30fc\u4f9b\u7d66\u304c\u906e\u65ad\u3055\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u30ed\u30a4\u30b7\u30f3\u4ee3\u8b1d\u306e\u7d42\u672b\u6bb5\u968e\u306b\u3082\u969c\u5bb3\u304c\u751f\u3058\u3001\u7279\u6709\u306e\u6709\u6a5f\u9178\u304c\u4f53\u5185\u306b\u84c4\u7a4d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>\u81e8\u5e8a\u75c7\u72b6\u306f\u4e73\u5150\u671f\u65e9\u671f\u3001\u7279\u306b\u751f\u5f8c\u6570\u304b\u6708\u4ee5\u5185\u306b\u521d\u3081\u3066\u51fa\u73fe\u3059\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u6025\u6027\u4ee3\u8b1d\u5931\u8abf\u306e\u5f62\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u4e3b\u306a\u75c7\u72b6\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5614\u5410\u3001\u4e0b\u75e2\u3001\u8131\u6c34<\/li>\n\n\n\n<li>\u4f4e\u8840\u7cd6\uff08\u7279\u306b\u30b1\u30c8\u30f3\u4f53\u3092\u4f34\u308f\u306a\u3044\u4f4e\u8840\u7cd6\uff09<\/li>\n\n\n\n<li>\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\uff08\u8840\u4e2dpH\u306e\u4f4e\u4e0b\uff09<\/li>\n\n\n\n<li>\u50be\u7720\u3001\u55dc\u7720\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u4eee\u6027\u9ebb\u75fa\uff09<\/li>\n\n\n\n<li>\u75d9\u6523\u3001\u660f\u7761\u3001\u547c\u5438\u969c\u5bb3<\/li>\n\n\n\n<li>\u610f\u8b58\u969c\u5bb3\u3092\u4f34\u3046\u6025\u6fc0\u306a\u795e\u7d4c\u75c7\u72b6<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u767a\u4f5c\u306f\u611f\u67d3\u75c7\u3001\u30ef\u30af\u30c1\u30f3\u63a5\u7a2e\u3001\u9577\u6642\u9593\u306e\u7d76\u98df\u3001\u6fc0\u3057\u3044\u904b\u52d5\u3001\u5fc3\u7406\u7684\u30fb\u8eab\u4f53\u7684\u30b9\u30c8\u30ec\u30b9\u306a\u3069\u306b\u3088\u3063\u3066\u8a98\u767a\u3055\u308c\u3084\u3059\u304f\u3001\u6cbb\u7642\u3055\u308c\u306a\u3044\u5834\u5408\u306f\u81f4\u6b7b\u7684\u3068\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u9577\u671f\u7684\u306b\u306f\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede\u3001\u75d9\u6027\u9ebb\u75fa\u3001\u5c0f\u8133\u5931\u8abf\u3001\u8a00\u8a9e\u767a\u9054\u9045\u5ef6\u3001\u6ce8\u610f\u6b20\u5982\u30fb\u591a\u52d5\u6027\u3068\u3044\u3063\u305f\u795e\u7d4c\u5b66\u7684\u5f8c\u907a\u75c7\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\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>\u8a3a\u65ad\u306f\u3001\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3084\u767a\u4f5c\u6642\u306e\u8840\u6db2\u30fb\u5c3f\u691c\u67fb\u306b\u3088\u308a\u884c\u308f\u308c\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8840\u6db2\u691c\u67fb\uff1a\u4f4e\u8840\u7cd6\u3001\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\uff08\u9ad8\u30a2\u30cb\u30aa\u30f3\u30ae\u30e3\u30c3\u30d7\uff09\u3001\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\u3001\u809d\u9175\u7d20\u4e0a\u6607<\/li>\n\n\n\n<li>\u5c3f\u4e2d\u6709\u6a5f\u9178\u5206\u6790\uff1a3-\u30d2\u30c9\u30ed\u30ad\u30b7-3-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30eb\u9178\u30013-\u30e1\u30c1\u30eb\u30b0\u30eb\u30bf\u30eb\u9178\u30013-\u30d2\u30c9\u30ed\u30ad\u30b7\u30a4\u30bd\u5409\u8349\u9178\u306a\u3069\u306e\u7570\u5e38\u6709\u6a5f\u9178\u306e\u5897\u52a0<\/li>\n\n\n\n<li>\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff1a\u30bf\u30f3\u30c7\u30e0\u30de\u30b9\u30b9\u30da\u30af\u30c8\u30ed\u30e1\u30c8\u30ea\u30fc\u306b\u3088\u308bC5-OH\uff083-\u30d2\u30c9\u30ed\u30ad\u30b7\u30a4\u30bd\u5409\u8349\u9178\u30ab\u30eb\u30cb\u30c1\u30f3\uff09\u306e\u4e0a\u6607<\/li>\n\n\n\n<li>\u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a\uff1a\u30ea\u30f3\u30d1\u7403\u3001\u7dda\u7dad\u82bd\u7d30\u80de\u3001\u307e\u305f\u306f\u4e0d\u6b7b\u5316\u30ea\u30f3\u30d1\u82bd\u7403\u3092\u7528\u3044\u305fHMGCL\u6d3b\u6027\u306e\u4f4e\u4e0b<\/li>\n\n\n\n<li>\u907a\u4f1d\u5b50\u691c\u67fb\uff1aHMGCL\u907a\u4f1d\u5b50\u306b\u304a\u3051\u308b\u75c5\u7684\u5909\u7570\uff08\u30db\u30e2\u63a5\u5408\u307e\u305f\u306f\u8907\u5408\u30d8\u30c6\u30ed\u63a5\u5408\uff09\u306e\u540c\u5b9a\uff08Sanger\u6cd5\u3084\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u307e\u305f\u3001\u975e\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306b\u3088\u308a\u3001\u5bfe\u8c61\u907a\u4f1d\u5b50\u306e\u5909\u7570\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3092\u884c\u3046\u3053\u3068\u3082\u53ef\u80fd\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>HMGCLD\u306e\u7ba1\u7406\u306b\u306f\u3001\u4ee3\u8b1d\u30b9\u30c8\u30ec\u30b9\u306e\u56de\u907f\u3068\u6025\u6027\u767a\u4f5c\u6642\u306e\u8fc5\u901f\u306a\u5bfe\u5fdc\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002\u4e3b\u306a\u6cbb\u7642\u65b9\u91dd\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u98df\u4e8b\u7642\u6cd5\uff1a\u30ed\u30a4\u30b7\u30f3\u304a\u3088\u3073\u5168\u4f53\u7684\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u5236\u9650\u98df\u3002\u4f4e\u30ed\u30a4\u30b7\u30f3\u98df\u306f\u3001\u795e\u7d4c\u6bd2\u6027\u3092\u5f15\u304d\u8d77\u3053\u3059\u6709\u6a5f\u9178\u306e\u84c4\u7a4d\u3092\u6291\u5236\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6804\u990a\u88dc\u52a9\uff1a\u5341\u5206\u306a\u70ad\u6c34\u5316\u7269\u6442\u53d6\u306b\u3088\u308b\u7cd6\u65b0\u751f\u4fc3\u9032\u304a\u3088\u3073\u4ee3\u8b1d\u7684\u5b89\u5b9a\u5316\u3002\u30ab\u30eb\u30cb\u30c1\u30f3\u88dc\u5145\u306f\u3001\u8102\u80aa\u9178\u4ee3\u8b1d\u3092\u88dc\u52a9\u3059\u308b\u76ee\u7684\u3067\u6295\u4e0e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6025\u6027\u671f\u5bfe\u5fdc\uff1a\u9759\u8108\u5185\u30d6\u30c9\u30a6\u7cd6\u8f38\u6db2\u3001\u91cd\u70ad\u9178\u30ca\u30c8\u30ea\u30a6\u30e0\u306b\u3088\u308b\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u306e\u88dc\u6b63\u3001\u75d9\u6523\u3084\u610f\u8b58\u969c\u5bb3\u3078\u306e\u5bfe\u75c7\u7642\u6cd5<\/li>\n\n\n\n<li>\u611f\u67d3\u75c7\u306e\u65e9\u671f\u6cbb\u7642\u3068\u30ef\u30af\u30c1\u30f3\u63a5\u7a2e\u5f8c\u306e\u4ee3\u8b1d\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u6cbb\u7642\u6226\u7565\u306f\u3001\u7279\u306b\u4e73\u5150\u671f\u65e9\u671f\u306b\u8a3a\u65ad\u3055\u308c\u3001\u9069\u5207\u306b\u7ba1\u7406\u3055\u308c\u305f\u5834\u5408\u306b\u4e88\u5f8c\u306e\u6539\u5584\u306b\u5927\u304d\u304f\u5bc4\u4e0e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>HMGCLD\u306e\u4e88\u5f8c\u306f\u3001\u8a3a\u65ad\u3068\u6cbb\u7642\u306e\u30bf\u30a4\u30df\u30f3\u30b0\u306b\u5927\u304d\u304f\u4f9d\u5b58\u3057\u307e\u3059\u3002\u65e9\u671f\u306b\u8a3a\u65ad\u3055\u308c\u3001\u6804\u990a\u7ba1\u7406\u3068\u4ee3\u8b1d\u5371\u6a5f\u306e\u4e88\u9632\u304c\u5fb9\u5e95\u3055\u308c\u305f\u60a3\u8005\u3067\u306f\u3001\u9ad8\u3044\u751f\u5b58\u7387\u3068\u751f\u6d3b\u306e\u8cea\u306e\u7dad\u6301\u304c\u53ef\u80fd\u3067\u3059\u3002\u4e00\u65b9\u3001\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3084\u91cd\u5ea6\u306e\u4f4e\u8840\u7cd6\u304c\u7e70\u308a\u8fd4\u3055\u308c\u308b\u3068\u3001\u4e0d\u53ef\u9006\u7684\u306a\u4e2d\u67a2\u795e\u7d4c\u969c\u5bb3\u304c\u6b8b\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u767a\u4f5c\u3092\u7e70\u308a\u8fd4\u3059\u672a\u6cbb\u7642\u4f8b\u3067\u306f\u3001\u6b7b\u4ea1\u7387\u3082\u9ad8\u304f\u3001\u521d\u56de\u767a\u4f5c\u3067\u306e\u6b7b\u4ea1\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u795e\u7d4c\u5b66\u7684\u5f8c\u907a\u75c7\u306e\u7a0b\u5ea6\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u767a\u75c7\u5e74\u9f62\u3001\u767a\u4f5c\u983b\u5ea6\u3001\u6cbb\u7642\u958b\u59cb\u6642\u671f\u306b\u4f9d\u5b58\u3059\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5f15\u7528\u6587\u732e | References<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK493179\/\">Dhillon KK, Gupta S. Biochemistry, Ketogenesis. [Updated 2023 Feb 6]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK493179\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK541119\/\">Melkonian EA, Asuka E, Schury MP. Physiology, Gluconeogenesis. [Updated 2023 Nov 13]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK541119\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/3-hydroxy-3-methylglutaryl-coa-lyase-deficiency\/\">3-hydroxy-3-methylglutaryl-CoA lyase deficiency: MedlinePlus Genetics. (2017 March). Retrieved 31 March 2025, from https:\/\/medlineplus.gov\/genetics\/condition\/3-hydroxy-3-methylglutaryl-coa-lyase-deficiency\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/BF01800058\">Gibson, K. M., Breuer, J., Kaiser, K., Nyhan, W. L., McCoy, E. E., Ferreira, P., Greene, C. L., Blitzer, M. G., Shapira, E., &amp; Reverte, F. (1988). 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients. Journal of inherited metabolic disease, 11(1), 76\u201387. https:\/\/doi.org\/10.1007\/BF01800058<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/omim.org\/clinicalSynopsis\/246450\">Clinical synopsis\u2014#246450\u20143-hydroxy-3-methylglutaryl-coa lyase deficiency; hmgcld\u2014Omim. (2017 May). Retrieved 31 March 2025, from https:\/\/omim.org\/clinicalSynopsis\/246450<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fgene.2022.880464\">Alfadhel, M., Abadel, B., Almaghthawi, H., Umair, M., Rahbeeni, Z., Faqeih, E., Almannai, M., Alasmari, A., Saleh, M., Eyaid, W., Alfares, A., &amp; Al Mutairi, F. (2022). Hmg-coa lyase deficiency: A retrospective study of 62 saudi patients. Frontiers in Genetics, 13, 880464. https:\/\/doi.org\/10.3389\/fgene.2022.880464<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.37349\/eemd.2025.101423\">Nguyen-Huu, H. T., Nguyen, K. L., Vu, P. N., &amp; Nguyen, H. H. (2025). Whole-exome sequencing uncovered the 3-hydroxy-3-methylglutaryl-CoA lyase deficiency as the cause of lethal in a Vietnamese infant. Exploration of Endocrine and Metabolic Diseases, 101423. https:\/\/doi.org\/10.37349\/eemd.2025.101423<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/nu15030531\">Thompson, S., Hertzog, A., Selvanathan, A., Batten, K., Lewis, K., Nisbet, J., Mitchell, A., Dalkeith, T., Billmore, K., Moore, F., Tolun, A. A., Devanapalli, B., Bratkovic, D., Hilditch, C., Rahman, Y., Tchan, M., &amp; Bhattacharya, K. (2023). Treatment of HMG-CoA Lyase Deficiency-Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases. Nutrients, 15(3), 531. https:\/\/doi.org\/10.3390\/nu15030531<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u30ad\u30fc\u30ef\u30fc\u30c9 | Keywords<\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup>HMGCLD, \u30b1\u30c8\u30f3\u4f53, \u30b1\u30c8\u30f3\u4f53\u5408\u6210, \u4f4e\u8840\u7cd6, \u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9, \u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5, \u30ed\u30a4\u30b7\u30f3\u4ee3\u8b1d\u7570\u5e38, HMGCL\u907a\u4f1d\u5b50, \u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7, \u5c0f\u5150\u75be\u60a3, \u907a\u4f1d\u6027\u75be\u60a3, \u6709\u6a5f\u9178\u5c3f\u75c7, \u9ad8\u6821\u751f\u5411\u3051\u533b\u7642\u8a18\u4e8b, \u30a8\u30cd\u30eb\u30ae\u30fc\u4ee3\u8b1d, \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":28,"template":"page_gd.php","class_list":["post-33444","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\/33444","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":11,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33444\/revisions"}],"predecessor-version":[{"id":125555,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33444\/revisions\/125555"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33444"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}