{"id":61548,"date":"2023-09-01T12:52:53","date_gmt":"2023-09-01T03:52:53","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=61548"},"modified":"2026-05-08T13:43:29","modified_gmt":"2026-05-08T04:43:29","slug":"congenital-n-linked-glycosylation-pathway-disorders","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-n-linked-glycosylation-pathway-disorders\/","title":{"rendered":"\u5148\u5929\u6027N-\u7d50\u5408\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u7d4c\u8def\u7570\u5e38\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>ALG6-CDG\uff08\u5148\u5929\u6027\u7cd6\u9396\u7570\u5e38\u75c7\u30bf\u30a4\u30d71C\uff09\u306f\u3001ALG6\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3001\u767a\u9054\u9045\u6ede\u3084\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u3066\u3093\u304b\u3093\u306a\u3069\u306e\u591a\u69d8\u306a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001ALG6-CDG\u306e\u75c5\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u306e\u73fe\u72b6\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u3001\u6700\u65b0\u306e\u7814\u7a76\u60c5\u5831\u3082\u4ea4\u3048\u3066\u3054\u7d39\u4ecb\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>ALG6\uff5cCongenital Disorder of Glycosylation Type 1C<\/p>\n\n\n\n<p><sup>Carbohydrate-Deficient Glycoprotein Syndrome, Type I, with Deficient Glycosylation of Dolichol-Linked Oligosaccharide, (Formerly)<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u5148\u5929\u6027\u7cd6\u9396\u7570\u5e38\u75c7\u30bf\u30a4\u30d71C\uff08Congenital Disorder of Glycosylation Type 1C, ALG6-CDG\uff09\u306f\u3001N-\u7d50\u5408\u578b\u7cd6\u9396\u4fee\u98fe\u7d4c\u8def\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u5e0c\u5c11\u306a\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u3067\u3042\u308b\u3002\u672c\u75be\u60a3\u306f\u3001<strong>ALG6\u907a\u4f1d\u5b50\uff081p31.3\uff09<\/strong> \u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u3001<strong>\u03b1-1,3-\u30b0\u30eb\u30b3\u30b7\u30eb\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc<\/strong>\uff08\u30b0\u30eb\u30b3\u30b7\u30eb\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc1\uff09\u306e\u6a5f\u80fd\u4e0d\u5168\u304c\u751f\u3058\u308b\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u9069\u5207\u306a\u7cd6\u9396\u4fee\u98fe\u304c\u963b\u5bb3\u3055\u308c\u3001\u591a\u7cfb\u7d71\u306b\u308f\u305f\u308b\u75c7\u72b6\u304c\u767a\u73fe\u3059\u308b\u3002<\/p>\n\n\n\n<p>ALG6-CDG\u306e\u4e3b\u306a\u81e8\u5e8a\u75c7\u72b6\u306b\u306f\u3001<strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u767a\u9054\u9045\u6ede\u3001\u3066\u3093\u304b\u3093\u3001\u5931\u8abf\u3001\u659c\u8996\u3001\u4f4e\u8840\u6e05\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u3001\u5185\u5206\u6ccc\u7570\u5e38\u3001\u304a\u3088\u3073\u51dd\u56fa\u56e0\u5b50\u6b20\u4e4f<\/strong> \u304c\u542b\u307e\u308c\u308b\u3002\u7a00\u306b\u3001<strong>\u7db2\u819c\u5909\u6027\u3001\u6df1\u90e8\u9759\u8108\u8840\u6813\u75c7\u3001\u4eee\u6027\u816b\u760d\u6027\u8133\u75c7<\/strong> \u306a\u3069\u306e\u91cd\u7be4\u306a\u5408\u4f75\u75c7\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f<strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/strong> \u5f62\u5f0f\u3092\u3068\u308a\u3001\u6975\u3081\u3066\u7a00\u306a\u75be\u60a3\u3067\u3042\u308b\u304c\u3001PMM2-CDG\uff08CDG-Ia\uff09\u306b\u6b21\u3044\u3067\u983b\u5ea6\u306e\u9ad8\u3044CDG\u306e\u4e00\u3064\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>ALG6-CDG\u306f\u4e16\u754c\u7684\u306b\u6975\u3081\u3066\u7a00\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u305d\u306e<strong>\u6709\u75c5\u7387\u306f100\u4e07\u4eba\u3042\u305f\u308a1\u4eba\u672a\u6e80<\/strong> \u3068\u63a8\u5b9a\u3055\u308c\u308b\u3002\u3053\u308c\u307e\u3067\u306b\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u306f<strong>100\u4f8b\u672a\u6e80<\/strong> \u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u4eba\u7a2e\u3084\u5730\u57df\u306b\u3088\u308b\u660e\u78ba\u306a\u504f\u308a\u306f\u8a8d\u3081\u3089\u308c\u3066\u3044\u306a\u3044\u304c\u3001\u4e00\u90e8\u306e<strong>\u907a\u4f1d\u7684\u30dc\u30c8\u30eb\u30cd\u30c3\u30af\u3092\u6301\u3064\u96c6\u56e3\uff08\u5357\u30a2\u30d5\u30ea\u30ab\u306e\u534a\u9694\u96e2\u96c6\u56e3\u306a\u3069\uff09<\/strong> \u3067\u9ad8\u983b\u5ea6\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>ALG6-CDG\u306f\u3001ALG6\u907a\u4f1d\u5b50\u306e\u30db\u30e2\u63a5\u5408\u578b\u307e\u305f\u306f\u8907\u5408\u30d8\u30c6\u30ed\u63a5\u5408\u578b\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001<strong>\u7cd6\u9396\u524d\u99c6\u4f53\u3067\u3042\u308b\u30ea\u30d4\u30c3\u30c9\u7d50\u5408\u30aa\u30ea\u30b4\u7cd6\uff08LLO\uff09\u3078\u306e\u6700\u521d\u306e\u30b0\u30eb\u30b3\u30fc\u30b9\u4ed8\u52a0<\/strong> \u3092\u89e6\u5a92\u3059\u308b\u9175\u7d20\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>ALG6\u9175\u7d20\u306e\u6a5f\u80fd\u55aa\u5931\u306b\u3088\u308a\u3001N-\u7d50\u5408\u578b\u7cd6\u9396\u306e\u9069\u5207\u306a\u4fee\u98fe\u304c\u884c\u308f\u308c\u305a\u3001<strong>\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u7acb\u4f53\u69cb\u9020\u3001\u5b89\u5b9a\u6027\u3001\u304a\u3088\u3073\u7d30\u80de\u9593\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306b\u7570\u5e38\u3092\u3082\u305f\u3089\u3059<\/strong>\u3002\u305d\u306e\u7d50\u679c\u3001\u591a\u7cfb\u7d71\u306b\u308f\u305f\u308b\u75c7\u72b6\u304c\u767a\u73fe\u3059\u308b\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>ALG6-CDG\u306e\u81e8\u5e8a\u75c7\u72b6\u306f\u591a\u69d8\u3067\u3042\u308a\u3001\u500b\u3005\u306e\u60a3\u8005\u306b\u3088\u3063\u3066\u7570\u306a\u308b\u3002\u4ee3\u8868\u7684\u306a\u75c7\u72b6\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u795e\u7d4c\u7cfb\u306e\u7570\u5e38<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u4f4e\u7dca\u5f35\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u767a\u9054\u9045\u6ede\uff08\u6b69\u884c\u304a\u3088\u3073\u8a00\u8a9e\u306e\u9045\u308c\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093\uff08\u767a\u71b1\u6027\u3051\u3044\u308c\u3093\u304b\u3089\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u307e\u3067\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u904b\u52d5\u5931\u8abf\uff08\u6b69\u884c\u969c\u5bb3\u3001\u5354\u8abf\u904b\u52d5\u969c\u5bb3\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u8133\u5352\u4e2d\u69d8\u30a8\u30d4\u30bd\u30fc\u30c9\uff08\u7121\u6c17\u529b\u3001\u4e00\u6642\u7684\u306a\u9ebb\u75fa\uff09<\/strong><\/li>\n<\/ul>\n\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u773c\u79d1\u7684\u7570\u5e38<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u659c\u8996<\/strong><\/li>\n\n\n\n<li><strong>\u7db2\u819c\u8272\u7d20\u5909\u6027\uff08\u8996\u529b\u4f4e\u4e0b\uff09<\/strong><\/li>\n<\/ul>\n\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u5185\u5206\u6ccc\u304a\u3088\u3073\u6210\u9577\u969c\u5bb3<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u8840\u6e05\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb<\/strong><\/li>\n\n\n\n<li><strong>\u9ad8\u30b4\u30ca\u30c9\u30c8\u30ed\u30d4\u30f3\u6027\u4f4e\u6027\u817a\u6a5f\u80fd\u75c7\uff08\u5973\u6027\u3067\u306f\u601d\u6625\u671f\u9045\u5ef6\uff09<\/strong><\/li>\n<\/ul>\n\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u6d88\u5316\u5668\u7cfb\u304a\u3088\u3073\u809d\u81d3\u306e\u7570\u5e38<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6442\u98df\u56f0\u96e3\u3001\u6210\u9577\u969c\u5bb3<\/strong><\/li>\n\n\n\n<li><strong>\u86cb\u767d\u55aa\u5931\u6027\u8178\u75c7\uff08\u4f4e\u30a2\u30eb\u30d6\u30df\u30f3\u8840\u75c7\u3001\u6d6e\u816b\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u809d\u816b\u5927\uff08\u809d\u6a5f\u80fd\u7570\u5e38\uff09<\/strong><\/li>\n<\/ul>\n\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u8840\u6db2\u304a\u3088\u3073\u5faa\u74b0\u5668\u7cfb\u306e\u7570\u5e38<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8840\u6db2\u51dd\u56fa\u7570\u5e38\uff08\u7b2cIX\u3001XI\u56e0\u5b50\u6b20\u4e4f\u3001\u6297\u30c8\u30ed\u30f3\u30d3\u30f3III\u4f4e\u5024\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u6df1\u90e8\u9759\u8108\u8840\u6813\u75c7<\/strong><\/li>\n<\/ul>\n\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>ALG6-CDG\u306e\u8a3a\u65ad\u306f\u3001<strong>\u81e8\u5e8a\u75c7\u72b6\u3001\u8840\u6db2\u691c\u67fb\u3001\u304a\u3088\u3073\u907a\u4f1d\u5b50\u691c\u67fb<\/strong> \u306b\u57fa\u3065\u3044\u3066\u884c\u308f\u308c\u308b\u3002<\/p>\n\n\n\n<ul start=\"1\" class=\"wp-block-list\">\n<li><strong>\u8840\u6db2\u691c\u67fb<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30ea\u30f3\u7cd6\u9396\u30d7\u30ed\u30d5\u30a1\u30a4\u30ea\u30f3\u30b0\uff08\u7570\u5e38\u306a\u7cd6\u9396\u4fee\u98fe\u306e\u691c\u51fa\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u4f4e\u30a2\u30eb\u30d6\u30df\u30f3\u8840\u75c7\u3001\u4f4e\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u8840\u75c7<\/strong><\/li>\n\n\n\n<li><strong>\u51dd\u56fa\u56e0\u5b50\u306e\u4f4e\u4e0b<\/strong><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<ul start=\"1\" class=\"wp-block-list\">\n<li><strong>\u753b\u50cf\u691c\u67fb<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u8133MRI\uff08\u8133\u840e\u7e2e\u3001\u5c0f\u8133\u4f4e\u5f62\u6210\u3001\u767d\u8cea\u7570\u5e38\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u773c\u5e95\u691c\u67fb\uff08\u7db2\u819c\u5909\u6027\u306e\u8a55\u4fa1\uff09<\/strong><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<ul start=\"1\" class=\"wp-block-list\">\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>ALG6\u907a\u4f1d\u5b50\u306e\u5909\u7570\u89e3\u6790\uff08\u30db\u30e2\u63a5\u5408\u578b\u307e\u305f\u306f\u8907\u5408\u30d8\u30c6\u30ed\u63a5\u5408\u578b\u5909\u7570\u306e\u691c\u51fa\uff09<\/strong><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>ALG6-CDG\u306b\u306f\u73fe\u5728\u3001<strong>\u6839\u6cbb\u7684\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u305b\u305a\u3001\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3<\/strong> \u3068\u306a\u308b\u3002<\/p>\n\n\n\n<ul start=\"1\" class=\"wp-block-list\">\n<li><strong>\u795e\u7d4c\u75c7\u72b6\u306e\u7ba1\u7406<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093\u7ba1\u7406\uff08\u6297\u3066\u3093\u304b\u3093\u85ac\u3001\u30b1\u30c8\u30f3\u98df\u7642\u6cd5\u306a\u3069\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\uff08\u904b\u52d5\u6a5f\u80fd\u306e\u5411\u4e0a\uff09<\/strong><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<ul start=\"1\" class=\"wp-block-list\">\n<li><strong>\u6804\u990a\u7ba1\u7406<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u7d4c\u7ba1\u6804\u990a\u3084\u9ad8\u30ab\u30ed\u30ea\u30fc\u98df\u306e\u5c0e\u5165\uff08\u6210\u9577\u4e0d\u826f\u5bfe\u7b56\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u86cb\u767d\u55aa\u5931\u6027\u8178\u75c7\u306b\u5bfe\u3059\u308b\u30a2\u30eb\u30d6\u30df\u30f3\u88dc\u5145<\/strong><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<ul start=\"1\" class=\"wp-block-list\">\n<li><strong>\u8840\u6db2\u51dd\u56fa\u7570\u5e38\u306e\u7ba1\u7406<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6297\u51dd\u56fa\u7642\u6cd5\uff08\u8840\u6813\u75c7\u4e88\u9632\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u8840\u6f3f\u88fd\u5264\u30fb\u51dd\u56fa\u56e0\u5b50\u88dc\u5145\u7642\u6cd5<\/strong><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<ul start=\"1\" class=\"wp-block-list\">\n<li><strong>\u5185\u5206\u6ccc\u7570\u5e38\u306e\u7ba1\u7406<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u30db\u30eb\u30e2\u30f3\u88dc\u5145\u7642\u6cd5\uff08\u6210\u9577\u30db\u30eb\u30e2\u30f3\u3001\u6027\u30db\u30eb\u30e2\u30f3\u88dc\u5145\uff09<\/strong><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>ALG6-CDG\u306e\u4e88\u5f8c\u306f\u3001<strong>\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u304a\u3088\u3073\u5408\u4f75\u75c7\u306e\u6709\u7121<\/strong> \u306b\u5927\u304d\u304f\u5de6\u53f3\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c0f\u5150\u671f\u306b\u6b7b\u4ea1\u3059\u308b\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u304c\u3001\u601d\u6625\u671f\u4ee5\u964d\u307e\u3067\u751f\u5b58\u3059\u308b\u4f8b\u3082\u3042\u308b<\/strong>\u3002<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093\u3092\u5408\u4f75\u3059\u308b\u4f8b\u3067\u306f\u795e\u7d4c\u5b66\u7684\u5f8c\u907a\u75c7\u304c\u9855\u8457<\/strong> \u3067\u3042\u308a\u3001\u767a\u9054\u306e\u505c\u6ede\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u7be4\u306a\u86cb\u767d\u55aa\u5931\u6027\u8178\u75c7\u3084\u8840\u6813\u75c7\u3092\u5408\u4f75\u3059\u308b\u5834\u5408\u3001\u751f\u547d\u4e88\u5f8c\u304c\u4e0d\u826f<\/strong> \u3067\u3042\u308b\u3002<\/li>\n<\/ul>\n\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u65e9\u671f\u8a3a\u65ad\u306b\u3088\u308a\u3001\u9069\u5207\u306a\u7ba1\u7406\u3092\u884c\u3046\u3053\u3068\u3067QOL\u306e\u5411\u4e0a\u304c\u671f\u5f85\u3055\u308c\u308b\u304c\u3001\u73fe\u6642\u70b9\u3067\u306f\u6709\u52b9\u306a\u75be\u60a3\u4fee\u98fe\u6cbb\u7642\u306f\u5b58\u5728\u3057\u306a\u3044\u3002\u305d\u306e\u305f\u3081\u3001\u4eca\u5f8c\u306e\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u304c\u6c42\u3081\u3089\u308c\u308b\u75be\u60a3\u3067\u3042\u308b\u3002<\/p>\n\n\n\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\/ijms24108632\">Conte, F., Sam, J.-E., Lefeber, D. J., &amp; Passier, R. (2023). Metabolic cardiomyopathies and cardiac defects in inherited disorders of carbohydrate metabolism: A systematic review. <em>International Journal of Molecular Sciences<\/em>, <em>24<\/em>(10), 8632. https:\/\/doi.org\/10.3390\/ijms24108632<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/diagnostics11081438\">Lipi\u0144ski, P., St\u0119pie\u0144, K. M., Ciara, E., Tylki-Szyma\u0144ska, A., &amp; Jezela-Stanek, A. (2021). Skeletal and bone mineral density features, genetic profile in congenital disorders of glycosylation: Review. <em>Diagnostics<\/em>, <em>11<\/em>(8), 1438. https:\/\/doi.org\/10.3390\/diagnostics11081438<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/jimd.12496\">Abu Bakar, N., Ashikov, A., Brum, J. M., Smeets, R., Kersten, M., Huijben, K., Keng, W. T., Speck-Martins, C. E., de Carvalho, D. R., de Rizzo, I. M. P. O., de Mello, W. D., Heiner-Fokkema, R., Gorman, K., Grunewald, S., Michelakakis, H., Moraitou, M., Martinelli, D., van Scherpenzeel, M., Janssen, M., de Boer, L., \u2026 Lefeber, D. J. (2022). Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1. <em>Journal of inherited metabolic disease<\/em>, <em>45<\/em>(4), 769\u2013781. https:\/\/doi.org\/10.1002\/jimd.12496<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.taylorfrancis.com\/chapters\/edit\/10.1201\/9781003145394-2\/defects-human-glycome-congenital-non-congenital-disorders-mumtaz-anwar\">Malik, A., &amp; Dar, T. A. (Eds.). (2022). <em>The glycome: Understanding the diversity and complexity of glycobiology<\/em> (First edition). Apple Academic Press.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1177\/2329048X231153781\">Clark, D. J., Murray, T., Drees, M., &amp; Kulkarni, N. (2023). A case of alg6-cdg with explosive onset of intractable epilepsy during infancy. <em>Child Neurology Open<\/em>, <em>10<\/em>, 2329048X231153781. https:\/\/doi.org\/10.1177\/2329048X231153781<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1136\/archdischild-2021-europaediatrics.105\">Golub, M. K., \u017digman, T., Ramad\u017ea, D. P., Jurin, M., Drinkovi\u0107, D. T., \u0106avar, S., D\u017eida, S., Nikoli\u0107, J., Miculini\u0107, A., Bili\u0107, E., Fumi\u0107, K., &amp; Bari\u0107, I. (2021). 105 ALG6-CDG- congenital disorder of glycosylation with recognizable phenotype. <em>Abstracts<\/em>, A44.2-A45. https:\/\/doi.org\/10.1136\/archdischild-2021-europaediatrics.105<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>ALG6-CDG, \u5148\u5929\u6027\u7cd6\u9396\u7570\u5e38\u75c7, ALG6\u907a\u4f1d\u5b50, \u3066\u3093\u304b\u3093, \u7b4b\u7dca\u5f35\u4f4e\u4e0b, \u767a\u9054\u9045\u6ede, \u4f4e\u8840\u6e05\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb, \u659c\u8996, \u86cb\u767d\u55aa\u5931\u6027\u8178\u75c7, \u9ad8\u30b4\u30ca\u30c9\u30c8\u30ed\u30d4\u30f3\u6027\u4f4e\u6027\u817a\u6a5f\u80fd\u75c7, N-\u7d50\u5408\u578b\u7cd6\u9396\u7570\u5e38, \u907a\u4f1d\u6027\u4ee3\u8b1d\u75be\u60a3<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-61548","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\/61548","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":6,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/61548\/revisions"}],"predecessor-version":[{"id":128117,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/61548\/revisions\/128117"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=61548"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}