{"id":60228,"date":"2023-08-24T16:55:13","date_gmt":"2023-08-24T07:55:13","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=60228"},"modified":"2026-05-08T12:56:35","modified_gmt":"2026-05-08T03:56:35","slug":"congenital-dysglycosylation","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-dysglycosylation\/","title":{"rendered":"\u5148\u5929\u6027\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\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>MPI-CDG\uff08\u30de\u30f3\u30ce\u30fc\u30b9\u30ea\u30f3\u9178\u30a4\u30bd\u30e1\u30e9\u30fc\u30bc\u6b20\u640d\u75c7\uff09\u306f\u3001\u307e\u308c\u306a\u5148\u5929\u6027\u7cd6\u9396\u7570\u5e38\u75c7\u306e\u4e00\u7a2e\u3067\u3001\u6d88\u5316\u5668\u75c7\u72b6\u3084\u4f4e\u8840\u7cd6\u3001\u51dd\u56fa\u7570\u5e38\u3092\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002\u4ed6\u306eCDG\u3068\u306f\u7570\u306a\u308a\u3001\u4e2d\u67a2\u795e\u7d4c\u7cfb\u306e\u95a2\u4e0e\u306f\u5c11\u306a\u304f\u3001\u7d4c\u53e3\u30de\u30f3\u30ce\u30fc\u30b9\u88dc\u5145\u7642\u6cd5\u304c\u6709\u52b9\u306a\u6cbb\u7642\u6cd5\u3068\u3057\u3066\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001MPI-CDG\u306e\u539f\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u6226\u7565\u3001\u305d\u3057\u3066\u6700\u65b0\u306e\u7814\u7a76\u52d5\u5411\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>MPI\uff5cCongenital Disorder of Glycosylation, Type 1B<\/p>\n\n\n\n<p><sup>Protein-Losing Enteropathy-Hepatic Fibrosis Syndrome; Mannosephosphate Isomerase Deficiency; Saguenay-Lac Saint-Jean Syndrome; Carbohydrate-Deficient Glycoprotein Syndrome Type Ib; Phosphomannose Isomerase Deficiency; Cdg Gastrointestinal Type<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u30de\u30f3\u30ce\u30fc\u30b9\u30ea\u30f3\u9178\u30a4\u30bd\u30e1\u30e9\u30fc\u30bc\u6b20\u640d\u75c7\uff08MPI-CDG\u3001\u65e7CDG-IB\uff09\u306f\u3001\u7cd6\u9396\u4fee\u98fe\u306e\u7570\u5e38\u3092\u4f34\u3046\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3042\u308a\u3001\u30de\u30f3\u30ce\u30fc\u30b9-6-\u30ea\u30f3\u9178\u30a4\u30bd\u30e1\u30e9\u30fc\u30bc\uff08MPI\uff09\u3092\u30b3\u30fc\u30c9\u3059\u308b<strong>MPI\u907a\u4f1d\u5b50\uff0815q24.1\uff09\u306e\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u75be\u60a3<\/strong>\u3067\u3042\u308b\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u4ed6\u306e\u5148\u5929\u6027\u7cd6\u9396\u7570\u5e38\u75c7\uff08Congenital Disorders of Glycosylation: CDG\uff09\u3068\u7570\u306a\u308a\u3001<strong>\u4e2d\u67a2\u795e\u7d4c\u7cfb\u306e\u95a2\u4e0e\u304c\u5c11\u306a\u3044<\/strong>\u70b9\u304c\u7279\u5fb4\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u4e3b\u306a\u81e8\u5e8a\u75c7\u72b6\u306b\u306f<strong>\u6162\u6027\u7684\u306a\u4e0b\u75e2\u3001\u6210\u9577\u969c\u5bb3\u3001\u86cb\u767d\u6f0f\u51fa\u6027\u8178\u75c7\u3001\u51dd\u56fa\u7570\u5e38\u3001\u4f4e\u8840\u7cd6\u3001\u809d\u7dda\u7dad\u75c7<\/strong>\u306a\u3069\u304c\u542b\u307e\u308c\u3001\u91cd\u75c7\u4f8b\u3067\u306f<strong>\u751f\u547d\u3092\u8105\u304b\u3059\u6d88\u5316\u7ba1\u51fa\u8840\u3084\u9580\u8108\u9ad8\u8840\u5727<\/strong>\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u3002MPI-CDG\u306e\u8a3a\u65ad\u306b\u306f\u3001<strong>\u8840\u6e05\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30ea\u30f3\u306e\u30a2\u30a4\u30bd\u30a8\u30ec\u30af\u30c8\u30ea\u30c3\u30af\u30d5\u30a9\u30fc\u30ab\u30b7\u30f3\u30b0\uff08IEF\uff09\u7570\u5e38<\/strong>\u3084<strong>\u907a\u4f1d\u5b50\u89e3\u6790<\/strong>\u304c\u6709\u52b9\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u7279\u7b46\u3059\u3079\u304d\u70b9\u3068\u3057\u3066\u3001<strong>MPI-CDG\u306f\u7d4c\u53e3\u30de\u30f3\u30ce\u30fc\u30b9\u88dc\u5145\u7642\u6cd5\u304c\u6709\u52b9\u306a\u6570\u5c11\u306a\u3044CDG\u306e\u4e00\u3064<\/strong>\u3067\u3042\u308a\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u6cbb\u7642\u304c\u4e88\u5f8c\u3092\u5927\u304d\u304f\u6539\u5584\u3059\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>MPI-CDG\u306f<strong>\u6975\u3081\u3066\u307e\u308c\u306a\u75be\u60a3<\/strong>\u3067\u3042\u308a\u3001\u4e16\u754c\u7684\u306a\u6709\u75c5\u7387\u306f<strong>100\u4e07\u4eba\u306b1\u4eba\u672a\u6e80<\/strong>\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u308b\u3002\u73fe\u5728\u307e\u3067\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u60a3\u8005\u6570\u306f\u975e\u5e38\u306b\u9650\u3089\u308c\u3066\u304a\u308a\u3001\u591a\u304f\u306e\u75c7\u4f8b\u304c\u672a\u8a3a\u65ad\u306e\u307e\u307e\u5b58\u5728\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u306e\u767a\u75c7\u306f\u65b0\u751f\u5150\u671f\u304b\u3089\u4e73\u5150\u671f\uff08\u751f\u5f8c2\u301c12\u304b\u6708\uff09\u306b\u304b\u3051\u3066\u8a8d\u3081\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3002\u4e73\u5150\u671f\u306b\u660e\u78ba\u306a\u75c7\u72b6\u3092\u5448\u3059\u308b\u304c\u3001\u75be\u60a3\u306e\u81e8\u5e8a\u7d4c\u904e\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u540c\u4e00\u5bb6\u7cfb\u5185\u3067\u3082\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u304c\u7570\u306a\u308b\u3053\u3068\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>MPI-CDG\u306f\u3001<strong>MPI\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u306b\u75c5\u7684\u5909\u7570\u3092\u6709\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u767a\u75c7\u3059\u308b<\/strong>\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u7d30\u80de\u8cea\u5185\u3067<strong>\u30d5\u30eb\u30af\u30c8\u30fc\u30b9-6-\u30ea\u30f3\u9178\uff08F6P\uff09\u3092\u30de\u30f3\u30ce\u30fc\u30b9-6-\u30ea\u30f3\u9178\uff08M6P\uff09\u3078\u5909\u63db\u3059\u308b\u9175\u7d20<\/strong>\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u308b\u3002\u3053\u306e\u5909\u63db\u7d4c\u8def\u306f\u3001<strong>N-\u7d50\u5408\u578b\u7cd6\u9396\u306e\u5408\u6210\u306b\u5fc5\u9808<\/strong>\u3067\u3042\u308a\u3001MPI\u306e\u6a5f\u80fd\u304c\u6b20\u640d\u3059\u308b\u3068\u3001N-\u7cd6\u9396\u306e\u9069\u5207\u306a\u5f62\u6210\u304c\u59a8\u3052\u3089\u308c\u308b\u3002<\/p>\n\n\n\n<p>MPI-CDG\u306e\u767a\u75c7\u30e1\u30ab\u30cb\u30ba\u30e0\u306b\u306f\u4ee5\u4e0b\u306e\u8981\u56e0\u304c\u95a2\u4e0e\u3057\u3066\u3044\u308b\uff1a<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>N-\u7cd6\u9396\u5408\u6210\u306e\u7570\u5e38<\/strong>\n<ul class=\"wp-block-list\">\n<li>MPI\u306e\u6a5f\u80fd\u6b20\u640d\u306b\u3088\u308a\u3001\u30de\u30f3\u30ce\u30fc\u30b9-6-\u30ea\u30f3\u9178\uff08M6P\uff09\u306e\u4f9b\u7d66\u304c\u4f4e\u4e0b\u3057\u3001N-\u7cd6\u9396\u306e\u4e0d\u5b8c\u5168\u306a\u5408\u6210\u3092\u5f15\u304d\u8d77\u3053\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u809d\u304a\u3088\u3073\u6d88\u5316\u7ba1\u3067\u306e\u5f71\u97ff<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7cd6\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u7570\u5e38\u306b\u3088\u308a\u3001\u8178\u7ba1\u7c98\u819c\u306e\u900f\u904e\u6027\u304c\u5897\u3057\u3001\u86cb\u767d\u6f0f\u51fa\u6027\u8178\u75c7\uff08PLE\uff09\u304c\u751f\u3058\u308b\u3002<\/li>\n\n\n\n<li>\u809d\u7d30\u80de\u306b\u304a\u3051\u308b\u7cd6\u9396\u4fee\u98fe\u306e\u7570\u5e38\u304c<strong>\u809d\u7dda\u7dad\u75c7<\/strong>\u3084<strong>\u9580\u8108\u9ad8\u8840\u5727<\/strong>\u306e\u539f\u56e0\u3068\u306a\u308b\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u51dd\u56fa\u7570\u5e38\u3068\u4ee3\u8b1d\u969c\u5bb3<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u51dd\u56fa\u56e0\u5b50\uff08\u30d7\u30ed\u30c6\u30a4\u30f3C\u3001S\u3001\u30a2\u30f3\u30c1\u30c8\u30ed\u30f3\u30d3\u30f3III\uff09\u306e\u4f4e\u4e0b\u306b\u3088\u308a\u3001<strong>\u8840\u6813\u75c7\u306e\u30ea\u30b9\u30af\u304c\u5897\u5927<\/strong>\u3059\u308b\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u8840\u7cd6\u3084\u9ad8\u30a4\u30f3\u30b9\u30ea\u30f3\u8840\u75c7<\/strong>\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308b\u304c\u3001\u6b63\u78ba\u306a\u30e1\u30ab\u30cb\u30ba\u30e0\u306f\u672a\u89e3\u660e\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>MPI-CDG\u306e\u4e3b\u306a\u81e8\u5e8a\u75c7\u72b6\u306f\u4ee5\u4e0b\u306e\u901a\u308a\uff1a<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u6d88\u5316\u5668\u75c7\u72b6<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6162\u6027\u306e\u4e0b\u75e2\u3001\u86cb\u767d\u6f0f\u51fa\u6027\u8178\u75c7\uff08PLE\uff09<\/li>\n\n\n\n<li><strong>\u96e3\u6cbb\u6027\u306e\u6d88\u5316\u7ba1\u51fa\u8840\uff08\u751f\u547d\u3092\u8105\u304b\u3059\u3053\u3068\u3082\u3042\u308b\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u809d\u7dda\u7dad\u75c7<\/strong>\u3001\u9580\u8108\u9ad8\u8840\u5727<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4ee3\u8b1d\u7570\u5e38<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u8840\u7cd6\u767a\u4f5c<\/strong><\/li>\n\n\n\n<li>\u6210\u9577\u969c\u5bb3\u3001\u4f53\u91cd\u5897\u52a0\u4e0d\u826f\uff08Failure to thrive\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u51dd\u56fa\u7570\u5e38<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u30d7\u30ed\u30c6\u30a4\u30f3C\u3001\u30d7\u30ed\u30c6\u30a4\u30f3S\u3001\u30a2\u30f3\u30c1\u30c8\u30ed\u30f3\u30d3\u30f3III\u306e\u6b20\u4e4f<\/strong><\/li>\n\n\n\n<li>\u8840\u6813\u75c7\u30ea\u30b9\u30af\u306e\u5897\u5927<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u75c7\u72b6\u306e\u6b20\u5982<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4ed6\u306eCDG\u3068\u306f\u7570\u306a\u308a\u3001<strong>\u4e2d\u67a2\u795e\u7d4c\u7cfb\u306e\u95a2\u4e0e\u304c\u306a\u3044<\/strong>\uff08\u8a8d\u77e5\u767a\u9054\u306f\u901a\u5e38\u6b63\u5e38\uff09<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>MPI-CDG\u306e\u8a3a\u65ad\u306b\u306f\u4ee5\u4e0b\u306e\u691c\u67fb\u304c\u6709\u52b9\u3067\u3042\u308b\uff1a<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u8840\u6e05\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30ea\u30f3\u7570\u5e38\u306e\u691c\u51fa<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30a2\u30a4\u30bd\u30a8\u30ec\u30af\u30c8\u30ea\u30c3\u30af\u30d5\u30a9\u30fc\u30ab\u30b7\u30f3\u30b0\uff08IEF\uff09\u306b\u3088\u308b\u7570\u5e38\u306a\u7cd6\u9396\u4fee\u98fe\u30d1\u30bf\u30fc\u30f3<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>MPI\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306e\u540c\u5b9a<\/strong>\uff08\u4e21\u30a2\u30ec\u30eb\u306e\u5909\u7570\u78ba\u8a8d\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8840\u6db2\u691c\u67fb<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u8840\u7cd6\u3001\u51dd\u56fa\u7570\u5e38\uff08\u30d7\u30ed\u30c6\u30a4\u30f3C\u3001S\u3001\u30a2\u30f3\u30c1\u30c8\u30ed\u30f3\u30d3\u30f3III\u306e\u4f4e\u4e0b\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u4f4e\u30a2\u30eb\u30d6\u30df\u30f3\u8840\u75c7\uff08\u86cb\u767d\u6f0f\u51fa\u6027\u8178\u75c7\u306e\u6307\u6a19\uff09<\/strong><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u809d\u6a5f\u80fd\u691c\u67fb\u3068\u753b\u50cf\u8a3a\u65ad<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u809d\u7dda\u7dad\u75c7\u3084\u9580\u8108\u9ad8\u8840\u5727\u306e\u8a55\u4fa1\uff08\u8d85\u97f3\u6ce2\u30fbCT\u30fbMRI\uff09<\/strong><\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>MPI-CDG\u306f\u3001<strong>\u7d4c\u53e3\u30de\u30f3\u30ce\u30fc\u30b9\u88dc\u5145\u7642\u6cd5\u304c\u6709\u52b9\u306a\u6570\u5c11\u306a\u3044CDG\u306e\u4e00\u3064<\/strong>\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u30de\u30f3\u30ce\u30fc\u30b9\u88dc\u5145\u7642\u6cd5<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>150 mg\/kg\/\u56de\u30011\u65e54\u56de\u7d4c\u53e3\u6295\u4e0e<\/strong>\uff08\u8178\u7ba1\u3067\u306e\u5438\u53ce\u304c\u826f\u597d\uff09<\/li>\n\n\n\n<li><strong>\u4f4e\u8840\u7cd6\u3001\u86cb\u767d\u6f0f\u51fa\u6027\u8178\u75c7\u3001\u51dd\u56fa\u7570\u5e38\u306e\u6539\u5584\u304c\u671f\u5f85\u3067\u304d\u308b<\/strong><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6804\u990a\u7ba1\u7406<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9ad8\u30ab\u30ed\u30ea\u30fc\u30fb\u9ad8\u86cb\u767d\u98df\u3001\u9759\u8108\u6804\u990a\uff08\u91cd\u75c7\u4f8b\uff09<\/li>\n\n\n\n<li>\u809d\u6a5f\u80fd\u969c\u5bb3\u306b\u5bfe\u3059\u308b\u88dc\u52a9\u7642\u6cd5<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u809d\u79fb\u690d<\/strong>\uff08\u4e00\u90e8\u306e\u91cd\u75c7\u4f8b\uff09\n<ul class=\"wp-block-list\">\n<li>\u9032\u884c\u6027\u809d\u7dda\u7dad\u75c7\u3084\u9580\u8108\u9ad8\u8840\u5727\u306b\u3088\u308b\u5408\u4f75\u75c7\u304c\u3042\u308b\u5834\u5408\u3001<strong>\u809d\u79fb\u690d\u304c\u691c\u8a0e\u3055\u308c\u308b<\/strong><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5b9a\u671f\u7684\u306a\u8840\u6db2\u691c\u67fb\u3068\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8840\u7cd6\u3001\u809d\u6a5f\u80fd\u3001\u51dd\u56fa\u80fd\u306e\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>MPI-CDG\u306e\u4e88\u5f8c\u306f<strong>\u65e9\u671f\u8a3a\u65ad\u3068\u6cbb\u7642\u306e\u6709\u7121\u306b\u5927\u304d\u304f\u4f9d\u5b58\u3059\u308b<\/strong>\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30de\u30f3\u30ce\u30fc\u30b9\u88dc\u5145\u7642\u6cd5\u3092\u9069\u5207\u306b\u884c\u3048\u3070\u3001\u751f\u547d\u4e88\u5f8c\u306f\u826f\u597d<\/strong><\/li>\n\n\n\n<li>\u305f\u3060\u3057\u3001<strong>\u809d\u7dda\u7dad\u75c7\u306e\u9032\u884c\u306f\u5b8c\u5168\u306b\u306f\u9632\u3052\u306a\u3044\u5834\u5408\u304c\u3042\u308b<\/strong>\u305f\u3081\u3001<strong>\u9577\u671f\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u304c\u5fc5\u8981<\/strong><\/li>\n\n\n\n<li><strong>\u65e9\u671f\u8a3a\u65ad\u304c\u9045\u308c\u308b\u3068\u3001\u91cd\u7be4\u306a\u809d\u969c\u5bb3\u3084\u6d88\u5316\u7ba1\u51fa\u8840\u3001\u51dd\u56fa\u7570\u5e38\u306b\u3088\u308b\u81f4\u6b7b\u7684\u306a\u5408\u4f75\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3059<\/strong><\/li>\n<\/ul>\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:\/\/www.ncbi.nlm.nih.gov\/books\/NBK579928\/ doi: 10.1101\/glycobiology.4e.45\">Lefeber DJ, Freeze HH, Steet R, et al. Congenital Disorders of Glycosylation. In: Varki A, Cummings RD, Esko JD, et al., editors. Essentials of Glycobiology [Internet]. 4th edition. Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press; 2022. Chapter 45. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK579928\/ doi: 10.1101\/glycobiology.4e.45<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s13023-023-02852-w\">Monticelli, M., D\u2019Onofrio, T., Jaeken, J. <em>et al.<\/em> Congenital disorders of glycosylation: narration of a story through its patents. <em>Orphanet J Rare Dis<\/em> <strong>18<\/strong>, 247 (2023). https:\/\/doi.org\/10.1186\/s13023-023-02852-w<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ymgmr.2024.101162\">Luo, C., Peng, D., Li, Y., Liu, S., Wu, Q., Xu, X., &amp; Wen, J. (2024). Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia. <em>Molecular Genetics and Metabolism Reports<\/em>, <em>41<\/em>, 101162. https:\/\/doi.org\/10.1016\/j.ymgmr.2024.101162<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fped.2021.715151\">Lipi\u0144ski, P., &amp; Tylki-Szyma\u0144ska, A. (2021). Congenital disorders of glycosylation: What clinicians need to know? <em>Frontiers in Pediatrics<\/em>, <em>9<\/em>, 715151. https:\/\/doi.org\/10.3389\/fped.2021.715151<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/978-3-662-63123-2_43\">Jaeken, J., Morava, E. (2022). Congenital Disorders of Glycosylation, Dolichol and Glycosylphosphatidylinositol Metabolism. In: Saudubray, JM., Baumgartner, M.R., Garc\u00eda-Cazorla, \u00c1., Walter, J. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https:\/\/doi.org\/10.1007\/978-3-662-63123-2_43<\/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>MPI-CDG, \u30de\u30f3\u30ce\u30fc\u30b9\u30ea\u30f3\u9178\u30a4\u30bd\u30e1\u30e9\u30fc\u30bc\u6b20\u640d\u75c7, \u5148\u5929\u6027\u7cd6\u9396\u7570\u5e38\u75c7, MPI\u907a\u4f1d\u5b50, \u4f4e\u8840\u7cd6, \u86cb\u767d\u6f0f\u51fa\u6027\u8178\u75c7, \u51dd\u56fa\u7570\u5e38, \u809d\u7dda\u7dad\u75c7, \u7d4c\u53e3\u30de\u30f3\u30ce\u30fc\u30b9\u88dc\u5145\u7642\u6cd5, \u9580\u8108\u9ad8\u8840\u5727, \u8840\u6e05\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30ea\u30f3, \u907a\u4f1d\u5b50\u8a3a\u65ad, \u5e0c\u5c11\u75be\u60a3<\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-60228","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\/60228","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":12,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60228\/revisions"}],"predecessor-version":[{"id":128095,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60228\/revisions\/128095"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=60228"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}