{"id":136661,"date":"2026-09-08T12:22:58","date_gmt":"2026-09-08T03:22:58","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=136661"},"modified":"2026-09-08T12:22:58","modified_gmt":"2026-09-08T03:22:58","slug":"alpha-methylacetoacetic-aciduria-acat1","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/alpha-methylacetoacetic-aciduria-acat1\/","title":{"rendered":"\u03b2-\u30b1\u30c8\u30c1\u30aa\u30e9\u30fc\u30bc\u6b20\u640d\u75c7\uff08\u03b1-\u30e1\u30c1\u30eb\u30a2\u30bb\u30c8\u9162\u9178\u5c3f\u75c7\uff09"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n\n<p>\u03b2-\u30b1\u30c8\u30c1\u30aa\u30e9\u30fc\u30bc\u6b20\u640d\u75c7\uff08\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u30a2\u30bb\u30c8\u30a2\u30bb\u30c1\u30ebCoA\u30c1\u30aa\u30e9\u30fc\u30bc\u6b20\u640d\u75c7\u30fb\u03b1-\u30e1\u30c1\u30eb\u30a2\u30bb\u30c8\u9162\u9178\u5c3f\u75c7\uff09\u306f\u3001\u305f\u3093\u3071\u304f\u8cea\u306e\u4e00\u90e8\uff08\u30a4\u30bd\u30ed\u30a4\u30b7\u30f3\uff09\u3068\u3001\u4f53\u5185\u3067\u4f5c\u3089\u308c\u308b\u30b1\u30c8\u30f3\u4f53\u3092\u51e6\u7406\u3059\u308b\u306f\u305f\u3089\u304d\u304c\u5f31\u304f\u306a\u308b\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>ACAT1<\/strong> \u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3075\u3060\u3093\u306f\u5143\u6c17\u3067\u3059\u304c\u3001\u304b\u305c\u3092\u3072\u3044\u305f\u3068\u304d\u3084\u98df\u4e8b\u304c\u3068\u308c\u306a\u3044\u3068\u304d\u306b\u3001\u5f37\u3044\u300c\u30b1\u30c8\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u767a\u4f5c\u300d\u3092\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u767a\u4f5c\u3092\u3044\u304b\u306b\u9632\u304e\u3001\u8d77\u304d\u305f\u3068\u304d\u306b\u65e9\u304f\u624b\u5f53\u3066\u3059\u308b\u304b\u304c\u6cbb\u7642\u306e\u4e2d\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n\n<p><strong>ACAT1<\/strong> \u907a\u4f1d\u5b50\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u306a\u304b\u3067\u306f\u305f\u3089\u304f\u30a2\u30bb\u30c8\u30a2\u30bb\u30c1\u30ebCoA\u30c1\u30aa\u30e9\u30fc\u30bc\uff08T2\uff09\u3068\u3044\u3046\u9175\u7d20\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u3053\u306e\u9175\u7d20\u306f\u3001\u30a4\u30bd\u30ed\u30a4\u30b7\u30f3\u306e\u5206\u89e3\u3068\u3001\u30b1\u30c8\u30f3\u4f53\u306e\u5229\u7528\u306e\u4e21\u65b9\u306b\u95a2\u308f\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9175\u7d20\u304c\u306f\u305f\u3089\u304b\u306a\u3044\u3068\u3001\u4f53\u8abf\u3092\u304f\u305a\u3057\u305f\u3068\u304d\u306b\u30b1\u30c8\u30f3\u4f53\u304c\u305f\u307e\u308a\u3059\u304e\u3001\u8840\u6db2\u304c\u9178\u6027\u306b\u304b\u305f\u3080\u3044\u3066\u30b1\u30c8\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3092\u8d77\u3053\u3057\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>\u3075\u3060\u3093\u306f\u7121\u75c7\u72b6\u3067\u3001\u767a\u9054\u3082\u6b63\u5e38\u306a\u3053\u3068\u304c\u591a\u3044<\/li>\n\n\n\n<li>\u611f\u67d3\u75c7\u3084\u7d76\u98df\u3092\u304d\u3063\u304b\u3051\u306b\u8d77\u3053\u308b<strong>\u30b1\u30c8\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u767a\u4f5c<\/strong>\uff08\u6fc0\u3057\u3044\u5614\u5410\u3001\u901f\u3044\u547c\u5438\u3001\u610f\u8b58\u306e\u4f4e\u4e0b\uff09<\/li>\n\n\n\n<li>\u767a\u4f5c\u6642\u306e\u8840\u6db2\u306e\u9178\u6027\u5316\u3001\u5c3f\u4e2d\u30b1\u30c8\u30f3\u4f53\u306e\u8457\u660e\u306a\u5897\u52a0<\/li>\n\n\n\n<li>\u91cd\u3044\u767a\u4f5c\u3092\u304f\u308a\u8fd4\u3059\u3068\u3001\u767a\u9054\u306b\u5f71\u97ff\u304c\u6b8b\u308b\u3053\u3068\u304c\u3042\u308b<\/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>\u767a\u4f5c\u6642\u306e\u8840\u6db2\u30ac\u30b9\u691c\u67fb\u3068\u5c3f\u4e2d\u30b1\u30c8\u30f3\u4f53\u3001\u5c3f\u306e\u6709\u6a5f\u9178\u5206\u6790\uff082-\u30e1\u30c1\u30eb-3-\u30d2\u30c9\u30ed\u30ad\u30b7\u916a\u9178\u3001\u30c1\u30b0\u30ea\u30eb\u30b0\u30ea\u30b7\u30f3\u306e\u5897\u52a0\uff09\u3001\u8840\u6db2\u306e\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\u5206\u6790\uff08C5:1\u3001C5-OH\u306e\u4e0a\u6607\uff09\u3067\u7591\u3044\u3001<strong>ACAT1<\/strong> \u907a\u4f1d\u5b50\u306e\u89e3\u6790\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3057\u307e\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>\u767a\u4f5c\u3092\u9632\u3050<\/strong>\uff1a\u9577\u6642\u9593\u306e\u7d76\u98df\u3092\u907f\u3051\u3001\u4f53\u8abf\u304c\u60aa\u3044\u3068\u304d\u306f\u65e9\u3081\u306b\u7cd6\u5206\u3092\u3068\u308b<\/li>\n\n\n\n<li><strong>\u30b7\u30c3\u30af\u30c7\u30a4\u5bfe\u5fdc<\/strong>\uff1a\u98df\u4e8b\u304c\u3068\u308c\u306a\u3044\u3068\u304d\u306f\u305f\u3081\u3089\u308f\u305a\u53d7\u8a3a\u3057\u3001\u30d6\u30c9\u30a6\u7cd6\u306e\u70b9\u6ef4\u3092\u53d7\u3051\u308b<\/li>\n\n\n\n<li>\u767a\u4f5c\u6642\u306f\u30d6\u30c9\u30a6\u7cd6\u8f38\u6db2\u3068\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u91cd\u70ad\u9178\u30ca\u30c8\u30ea\u30a6\u30e0\u306b\u3088\u308b\u88dc\u6b63<\/li>\n\n\n\n<li>\u305f\u3093\u3071\u304f\u8cea\u3092\u3084\u3084\u63a7\u3048\u305f\u98df\u4e8b\u304c\u6307\u793a\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u30ab\u30eb\u30cb\u30c1\u30f3\u306e\u88dc\u5145<\/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>\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>ACAT1<\/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>\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>ACAT1<\/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>\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>\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>\u03b2-\u30b1\u30c8\u30c1\u30aa\u30e9\u30fc\u30bc\u6b20\u640d\u75c7\u306f <strong>ACAT1<\/strong>\uff0811q22.3\uff09\u306e\u4e21\u30a2\u30ec\u30eb\u5909\u7570\u306b\u3088\u308a\u751f\u3058\u308b\u3002ACAT1\u304c\u30b3\u30fc\u30c9\u3059\u308b\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u30a2\u30bb\u30c8\u30a2\u30bb\u30c1\u30ebCoA\u30c1\u30aa\u30e9\u30fc\u30bc\uff08T2\uff09\u306f\u3001\u30a4\u30bd\u30ed\u30a4\u30b7\u30f3\u7570\u5316\u7d4c\u8def\u306b\u304a\u3051\u308b 2-\u30e1\u30c1\u30eb\u30a2\u30bb\u30c8\u30a2\u30bb\u30c1\u30ebCoA \u306e\u30c1\u30aa\u30fc\u30eb\u958b\u88c2\u3068\u3001\u30b1\u30c8\u30f3\u4f53\u4ee3\u8b1d\u306b\u304a\u3051\u308b\u30a2\u30bb\u30c8\u30a2\u30bb\u30c1\u30ebCoA\u306e\u958b\u88c2\u306e\u53cc\u65b9\u3092\u89e6\u5a92\u3059\u308b\u3002<\/p>\n\n\n\n<p>\u751f\u5316\u5b66\u7684\u306b\u306f\u3001\u5c3f\u4e2d\u6709\u6a5f\u9178\u5206\u6790\u306b\u304a\u3051\u308b 2-methyl-3-hydroxybutyric acid \u3068 tiglylglycine \u306e\u5897\u52a0\u3001\u8840\u4e2d\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\u306b\u304a\u3051\u308b C5:1 \u304a\u3088\u3073 C5-OH \u306e\u4e0a\u6607\u304c\u7279\u5fb4\u3067\u3042\u308b\u3002\u305f\u3060\u3057\u767a\u4f5c\u9593\u6b20\u671f\u306b\u306f\u6240\u898b\u304c\u4e4f\u3057\u3044\u3053\u3068\u304c\u3042\u308a\u3001\u7121\u75c7\u72b6\u671f\u306e\u691c\u4f53\u3067\u306f\u898b\u9003\u3055\u308c\u3046\u308b\u3002<\/p>\n\n\n\n<p>\u81e8\u5e8a\u7d4c\u904e\u306f\u9593\u6b20\u7684\u3067\u3001\u611f\u67d3\u30fb\u7d76\u98df\u30fb\u9ad8\u86cb\u767d\u6442\u53d6\u3092\u5951\u6a5f\u306b\u91cd\u7be4\u306a\u30b1\u30c8\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\uff08pH < 7.1 \u306b\u81f3\u308b\u3053\u3068\u3082\u3042\u308b\uff09\u3092\u5448\u3059\u308b\u4e00\u65b9\u3001\u767a\u4f5c\u9593\u6b20\u671f\u306f\u5b8c\u5168\u306b\u7121\u75c7\u72b6\u3067\u3042\u308b\u3002\u9069\u5207\u306a\u767a\u4f5c\u4e88\u9632\u3068\u65e9\u671f\u4ecb\u5165\u306b\u3088\u308a\u3001\u4e88\u5f8c\u306f\u826f\u597d\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3002<\/p>\n\n\n\n<p>\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\u5206\u6790\u3067\u691c\u51fa\u3055\u308c\u3046\u308b\u304c\u3001\u611f\u5ea6\u306f\u5b8c\u5168\u3067\u306f\u306a\u3044\u3002\u65e5\u672c\u4eba\u75c7\u4f8b\u306e\u5831\u544a\u304c\u6bd4\u8f03\u7684\u591a\u304f\u3001\u7279\u5b9a\u306e\u5909\u7570\u306e\u96c6\u7a4d\u304c\u77e5\u3089\u308c\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. \u3075\u3060\u3093\u306f\u5143\u6c17\u3067\u3059\u304c\u3001\u4f55\u306b\u6c17\u3092\u3064\u3051\u308c\u3070\u3088\u3044\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u304b\u305c\u3092\u3072\u3044\u305f\u3068\u304d\u3001\u71b1\u304c\u51fa\u305f\u3068\u304d\u3001\u98df\u4e8b\u304c\u3068\u308c\u306a\u3044\u3068\u304d\u304c\u8981\u6ce8\u610f\u3067\u3059\u3002\u65e9\u3081\u306b\u7cd6\u5206\u3092\u3068\u308a\u3001\u7121\u7406\u305d\u3046\u306a\u3068\u304d\u306f\u53d7\u8a3a\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u767a\u4f5c\u304c\u8d77\u304d\u305f\u3089\u3069\u3046\u3059\u308c\u3070\u3088\u3044\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u5614\u5410\u304c\u3068\u307e\u3089\u306a\u3044\u3001\u547c\u5438\u304c\u901f\u3044\u3001\u3050\u3063\u305f\u308a\u3057\u3066\u3044\u308b\u3068\u3044\u3063\u305f\u69d8\u5b50\u304c\u3042\u308c\u3070\u3001\u3059\u3050\u306b\u533b\u7642\u6a5f\u95a2\u3092\u53d7\u8a3a\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u30d6\u30c9\u30a6\u7cd6\u306e\u70b9\u6ef4\u3067\u56de\u5fa9\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u98df\u4e8b\u5236\u9650\u306f\u5fc5\u8981\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u305f\u3093\u3071\u304f\u8cea\u3092\u3084\u3084\u63a7\u3048\u308b\u3088\u3046\u6307\u793a\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u53b3\u3057\u3044\u5236\u9650\u306f\u901a\u5e38\u5fc5\u8981\u3042\u308a\u307e\u305b\u3093\u3002\u62c5\u5f53\u306e\u5148\u751f\u306e\u6307\u793a\u306b\u5f93\u3063\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u767a\u9054\u306b\u5f71\u97ff\u3057\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u767a\u4f5c\u3092\u8d77\u3053\u3055\u305a\u306b\u7d4c\u904e\u3059\u308c\u3070\u3001\u767a\u9054\u306f\u6b63\u5e38\u306a\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u91cd\u3044\u767a\u4f5c\u3092\u304f\u308a\u8fd4\u3059\u3068\u5f71\u97ff\u304c\u6b8b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u5927\u4eba\u306b\u306a\u3063\u3066\u3082\u7d9a\u304d\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u5e74\u9f62\u3068\u3068\u3082\u306b\u767a\u4f5c\u306f\u8d77\u3053\u308a\u306b\u304f\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u4f53\u8abf\u7ba1\u7406\u306f\u7d9a\u3051\u308b\u3053\u3068\u304c\u671b\u307e\u3057\u3044\u3068\u3055\u308c\u3066\u3044\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>Fukao T, Yamaguchi S, Kano M, et al. Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency. <em>J Clin Invest<\/em>. 1990;86(6):2086-2092.<\/li>\n\n\n\n<li>Fukao T, Mitchell G, Sass JO, et al. Ketone body metabolism and its defects. <em>J Inherit Metab Dis<\/em>. 2014;37(4):541-551.<\/li>\n\n\n\n<li>Gr\u00fcnert SC, Sass JO. \u03b2-ketothiolase deficiency: one disease &#8211; two pathways. <em>Orphanet J Rare Dis<\/em>. 2020;15(1):106.<\/li>\n\n\n\n<li>OMIM #203750 Alpha-methylacetoacetic aciduria<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136661","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\/136661","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\/136661\/revisions"}],"predecessor-version":[{"id":137031,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136661\/revisions\/137031"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136661"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}