{"id":33643,"date":"2022-07-11T17:26:58","date_gmt":"2022-07-11T08:26:58","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33643"},"modified":"2026-04-28T12:24:13","modified_gmt":"2026-04-28T03:24:13","slug":"congenital-disorder-of-glycosylation-type-1a-pmm2-related","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-disorder-of-glycosylation-type-1a-pmm2-related\/","title":{"rendered":"\u5148\u5929\u6027\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u7570\u5e38\u75c7\u2160A\u578b(PMM2\u95a2\u9023)"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n\n<p>\u5148\u5929\u6027\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u7570\u5e38\u75c7\u2160A\u578b(PMM2\u95a2\u9023)\uff08Congenital Disorder of Glycosylation, Type 1A (PMM2-related)\uff09\u306f\u3001\u7cd6\u30bf\u30f3\u30d1\u30af\u306e\u7cd6\u9396\u306e\u5408\u6210\u904e\u7a0b\u304a\u3088\u3073\u4fee\u98fe\u904e\u7a0b\u306b\u95a2\u308f\u308b\u3001PMM2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3001\u7cd6\u30bf\u30f3\u30d1\u30af\u306e\u6a5f\u80fd\u4e0d\u8db3\u306b\u3088\u3063\u3066\u767a\u75c7\u3059\u308b\u5148\u5929\u4ee3\u8b1d\u7570\u5e38\u75c7\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66<\/h2>\n\n\n\n<p>800\u4eba\u4ee5\u4e0a\u304c\u4e16\u754c\u4e2d\u3067\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u56fd\u5185\u306e\u8abf\u67fb\u3067\u306f50\u540d\u7a0b\u5ea6\u304c\u5b58\u5728\u3057\u307e\u3059\u304c\u3001\u8a3a\u65ad\u65b9\u6cd5\u304c\u666e\u53ca\u3057\u3066\u3044\u306a\u3044\u305f\u3081\u3001\u672a\u8a3a\u65ad\u4f8b\u304c\u591a\u6570\u5b58\u5728\u3059\u308b\u3068\u4e88\u60f3\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001PMM2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002PMM2\u907a\u4f1d\u5b50\u306f\u3001\u30db\u30b9\u30db\u30de\u30f3\u30ce\u30e0\u30bf\u30fc\u30bc2(PMM2)\u3068\u547c\u3070\u308c\u308b\u9175\u7d20\u3092\u4f5c\u308b\u305f\u3081\u306e\u6307\u793a\u3092\u63d0\u4f9b\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>PMM2\u9175\u7d20\u306f\u3001\u30aa\u30ea\u30b4\u7cd6\u306e\u30b0\u30eb\u30fc\u30d7\u3092\u30bf\u30f3\u30d1\u30af\u8cea\u306b\u7d50\u5408\u3055\u305b\u308b\u30b0\u30ea\u30b3\u30b7\u30eb\u5316(\u7cd6\u9396\u4ed8\u52a0)\u3068\u547c\u3070\u308c\u308b\u30d7\u30ed\u30bb\u30b9\u306b\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u7cd6\u9396\u4ed8\u52a0\u306b\u3088\u3063\u3066\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3055\u307e\u3056\u307e\u306a\u6a5f\u80fd\u3092\u5b9f\u884c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>PMM2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001\u6d3b\u6027\u304c\u4f4e\u4e0b\u3057\u305f\u7570\u5e38\u306aPMM2\u9175\u7d20\u306e\u7523\u751f\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u304c\u3001\u9069\u5207\u306b\u6a5f\u80fd\u3059\u308bPMM2\u9175\u7d20\u304c\u306a\u3044\u3068\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u306f\u6b63\u5e38\u306b\u9032\u884c\u3057\u307e\u305b\u3093\u3002\u3053\u306e\u75be\u60a3\u306e\u3055\u307e\u3056\u307e\u306a\u5146\u5019\u3068\u75c7\u72b6\u306f\u3001\u591a\u304f\u306e\u81d3\u5668\u3084\u7d44\u7e54\u3067\u6b63\u5e38\u3067\u306f\u306a\u3044\u7cd6\u9396\u4ed8\u52a0\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u7523\u751f\u3055\u308c\u308b\u3053\u3068\u304c\u539f\u56e0\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n\n<p>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u9665\u6ca1\u4e73\u982d\u3001\u8102\u80aa\u306e\u7570\u5e38\u306a\u5206\u5e03\u3001\u659c\u8996\u3001\u5c0f\u8133\u672a\u767a\u9054\u3001\u809d\u6a5f\u80fd\u7570\u5e38\u7b49\u591a\u5f69\u306a\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002\u6700\u3082\u91cd\u75c7\u306a\u75c7\u4f8b\u306f\u3001\u80ce\u5150\u6c34\u816b\u3067\u3001\u80ce\u5150\u6c34\u816b\u306e\u307b\u3068\u3093\u3069\u306e\u8d64\u3061\u3083\u3093\u306f\u6b7b\u7523\u3067\u3042\u308b\u304b\u3001\u51fa\u751f\u76f4\u5f8c\u306b\u6b7b\u4ea1\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u8a3a\u65ad<\/h2>\n\n\n\n<p>\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30ea\u30f3\u306e\u7b49\u96fb\u70b9\u96fb\u6c17\u6cf3\u52d5\u3084\u8cea\u91cf\u5206\u6790\u6cd5\u3067\u3001\u7cd6\u9396\u306e\u4e0d\u8db3\u3084\u69cb\u9020\u7570\u5e38\u306b\u3088\u3063\u3066\u8a3a\u65ad\u3057\u307e\u3059\u3002\u907a\u4f1d\u5b50\u89e3\u6790\u3067\u75c5\u7684\u5909\u7570\u3092\u540c\u5b9a\u3059\u308b\u3053\u3068\u3082\u8a3a\u65ad\u7684\u610f\u7fa9\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n\n<p>\u6709\u52b9\u306a\u6cbb\u7642\u6cd5\u304c\u306a\u304f\u3001\u5bfe\u75c7\u7642\u6cd5\u306b\u7559\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c<\/h2>\n\n\n\n<p>\u7f79\u60a3\u3057\u305f\u4e73\u5150\u306e\u7d0420\uff05\u306f\u3001\u591a\u81d3\u5668\u4e0d\u5168\u306e\u305f\u3081\u306b\u751f\u5f8c1\u5e74\u3092\u751f\u304d\u5ef6\u3073\u307e\u305b\u3093\u304c\u3001\u8efd\u75c7\u4f8b\u3067\u306f\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede\u3084\u591a\u52d5\u75c7\u306e\u307f\u3067\u6210\u4eba\u5e74\u9f62\u306b\u5230\u9054\u3057\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<p>\u3010\u53c2\u8003\u6587\u732e\u3011<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc &#8211; <a href=\"https:\/\/www.shouman.jp\/disease\/details_next_2021\/11_12_032\/\" data-type=\"URL\" data-id=\"https:\/\/www.shouman.jp\/disease\/details_next_2021\/11_12_032\/\">\u5148\u5929\u6027\u30b0\u30ea\u30b3\u30b7\u30eb\u5316\u7570\u5e38\u75c7<\/a><\/li>\n\n\n\n<li>Medline Plus &#8211; <a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/pmm2-congenital-disorder-of-glycosylation\/\" data-type=\"URL\" data-id=\"https:\/\/medlineplus.gov\/genetics\/condition\/pmm2-congenital-disorder-of-glycosylation\/\">PMM2-congenital disorder of glycosylation<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":33,"template":"page_gd.php","class_list":["post-33643","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\/33643","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":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33643\/revisions"}],"predecessor-version":[{"id":127688,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33643\/revisions\/127688"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33643"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}