{"id":111662,"date":"2025-06-13T12:27:36","date_gmt":"2025-06-13T03:27:36","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/"},"modified":"2025-08-22T11:51:25","modified_gmt":"2025-08-22T02:51:25","slug":"glycine-encephalopathy-amt-overview","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/?lang=zh-hans","title":{"rendered":"\u975e\u916e\u6027\u9ad8\u7518\u6c28\u9178\u8840\u75c7\uff08\u7518\u6c28\u9178\u8111\u75c5\uff09\uff3bAMT\u76f8\u5173\u578b\uff3d"},"content":{"rendered":"\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/?lang=zh-hans\/#%E5%9F%BA%E5%9B%A0%E5%8C%BA%E5%9F%9F_Implicated_Genomic_Region\" >\u57fa\u56e0\u533a\u57df | Implicated Genomic Region<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/?lang=zh-hans\/#%E5%8F%82%E8%80%83\" >\u53c2\u8003<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%9F%BA%E5%9B%A0%E5%8C%BA%E5%9F%9F_Implicated_Genomic_Region\"><\/span><strong>\u57fa\u56e0\u533a\u57df | Implicated Genomic Region<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><strong>AMT<\/strong><\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"25\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/AMT-hgtIdeo_genome_339e1f_b7d380-1024x25.png\" alt=\"AMT\" class=\"wp-image-101264\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u76f8\u5173\u57fa\u56e0<\/strong>\uff1aAMT\uff08\u6c28\u57fa\u7532\u57fa\u8f6c\u79fb\u9176 \/ aminomethyltransferase\uff09<br><\/li>\n\n\n\n<li><strong>\u57fa\u56e0\u5ea7\uff08\u4f4d\u7f6e\uff09<\/strong>\uff1a\u7b2c3\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff083p21.31\uff09<br><\/li>\n\n\n\n<li><strong>\u529f\u80fd<\/strong>\uff1aAMT\u57fa\u56e0\u8d1f\u8d23\u751f\u6210\u201cT\u86cb\u767d\uff08T-protein\uff09\u201d\uff0c\u8fd9\u662f\u4e00\u79cd\u5b58\u5728\u4e8e\u7ec6\u80de\u7ebf\u7c92\u4f53\u4e2d\u7684\u9176\uff0c\u53c2\u4e0e\u201c\u7518\u6c28\u9178\u88c2\u89e3\u7cfb\u7edf\uff08glycine cleavage system, GCS\uff09\u201d\uff0c\u8d1f\u8d23\u5206\u89e3\u6c28\u57fa\u9178\u7518\u6c28\u9178\u3002<br><\/li>\n<\/ul>\n\n\n\n<p><strong>\u5176\u4ed6\u76f8\u5173\u57fa\u56e0<\/strong>\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>GLDC<\/strong>\uff08\u7518\u6c28\u9178\u8131\u7fa7\u9176 \/ glycine decarboxylase\uff09\uff1a\u7ea675\u301c80%\u7684\u75c5\u4f8b\u6709\u5173<br><\/li>\n\n\n\n<li><strong>GCSH<\/strong>\uff08H\u86cb\u767d \/ H-protein\uff09\uff1a\u6781\u5c11\u89c1\uff08&lt;1%\uff09<br><\/li>\n<\/ul>\n\n\n\n<p><strong>DLD<\/strong>\uff08\u4e8c\u6c22\u786b\u8f9b\u9170\u80fa\u8131\u6c22\u9176 \/ dihydrolipoamide dehydrogenase\uff09\uff1a\u4e5f\u53c2\u4e0e\u5176\u4ed6\u4ee3\u8c22\u901a\u8def<\/p>\n\n\n\n<p><strong>\u75be\u75c5\u540d\u79f0 | Disorder<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b63\u5f0f\u540d\u79f0<\/strong>\uff1a\u7518\u6c28\u9178\u8111\u75c5\uff08Glycine Encephalopathy\uff09<br><\/li>\n<\/ul>\n\n\n\n<p><strong>\u522b\u540d<\/strong>\uff1a\u975e\u916e\u6027\u9ad8\u7518\u6c28\u9178\u8840\u75c7\uff08Nonketotic Hyperglycinemia, NKH\uff09\u3001\u7518\u6c28\u9178\u5408\u6210\u9176\u7f3a\u4e4f\u75c7\uff08Glycine Synthase Deficiency\uff09\u3001NKA\u7b49<\/p>\n\n\n\n<p><strong>\u6982\u8981 | Overview<br><\/strong> \u7518\u6c28\u9178\u8111\u75c5\u662f\u4e00\u79cd\u975e\u5e38\u7f55\u89c1\u7684\u9057\u4f20\u6027\u4ee3\u8c22\u6027\u8111\u90e8\u75be\u75c5\u3002\u7531\u4e8e\u4f53\u5185\u7518\u6c28\u9178\u4e0d\u80fd\u6b63\u5e38\u5206\u89e3\uff0c\u5bfc\u81f4\u5176\u5728\u4f53\u5185\uff0c\u5c24\u5176\u662f\u8111\u5185\u5f02\u5e38\u79ef\u805a\uff0c\u4e25\u91cd\u5f71\u54cd\u795e\u7ecf\u7cfb\u7edf\u529f\u80fd\u3002<br>\u6b63\u5e38\u60c5\u51b5\u4e0b\uff0c\u7518\u6c28\u9178\u662f\u91cd\u8981\u7684\u795e\u7ecf\u9012\u8d28\uff0c\u4f46\u5f53\u5176\u6d53\u5ea6\u8fc7\u9ad8\u65f6\uff0c\u4f1a\u5bfc\u81f4\u795e\u7ecf\u8fc7\u5ea6\u5174\u594b\uff0c\u51fa\u73b0\u62bd\u6410\u3001\u547c\u5438\u969c\u788d\u7b49\u75c7\u72b6\u3002<br>\u8be5\u75be\u75c5\u6e90\u4e8e\u7ebf\u7c92\u4f53\u5185\u7684\u201c\u7518\u6c28\u9178\u88c2\u89e3\u7cfb\u7edf\uff08GCS\uff09\u201d\u7684\u56db\u79cd\u9176\u4e4b\u4e00\u51fa\u73b0\u529f\u80fd\u5f02\u5e38\u3002\u5176\u4e2d\u7ea620%\u7684\u75c5\u4f8b\u7531AMT\u57fa\u56e0\u7a81\u53d8\u5bfc\u81f4\u3002<\/p>\n\n\n\n<p><strong>\u6d41\u884c\u75c5\u5b66 | Epidemiology<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u53d1\u75c5\u7387<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u82ac\u5170\uff1a1\/55,000<br><\/li>\n\n\n\n<li>\u52a0\u62ff\u5927\uff08\u4e0d\u5217\u98a0\u54e5\u4f26\u6bd4\u4e9a\u7701\uff09\uff1a1\/63,000<br><\/li>\n\n\n\n<li>\u5168\u7403\u4f30\u8ba1\uff1a1\/76,000<br><\/li>\n\n\n\n<li>\u82ac\u5170\u5317\u90e8\uff1a1\/12,000\uff08\u5c40\u90e8\u9ad8\u53d1\uff09<br><\/li>\n\n\n\n<li>\u53f0\u6e7e\uff1a10\u4e07\u4eba\u4e2d7.2\u4eba<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9057\u4f20\u65b9\u5f0f<\/strong>\uff1a\u5e38\u67d3\u8272\u4f53\u9690\u6027\u9057\u4f20\uff08autosomal recessive inheritance\uff09<br><\/li>\n<\/ul>\n\n\n\n<p>\u7236\u6bcd\u5747\u4e3a\u643a\u5e26\u8005\u65f6\uff0c\u5b50\u5973\u60a3\u75c5\u51e0\u7387\u4e3a25%\u3002<\/p>\n\n\n\n<p><strong>\u75c5\u56e0 | Etiology<br><\/strong> \u8be5\u75c5\u56e0\u7518\u6c28\u9178\u5206\u89e3\u529f\u80fd\u7f3a\u9677\u5f15\u8d77\u3002AMT\u57fa\u56e0\u7a81\u53d8\u5bfc\u81f4T\u86cb\u767d\u7f3a\u4e4f\uff0c\u7518\u6c28\u9178\u88c2\u89e3\u7cfb\u7edf\u65e0\u6cd5\u6b63\u5e38\u5de5\u4f5c\u3002\u7ed3\u679c\u662f\u7518\u6c28\u9178\u5728\u8111\u548c\u810a\u9ad3\u4e2d\u79ef\u805a\uff0c\u523a\u6fc0\u795e\u7ecf\u5143\u8fc7\u5ea6\u5174\u594b\uff0c\u635f\u4f24\u795e\u7ecf\u7ec6\u80de\uff0c\u8fdb\u800c\u5bfc\u81f4\u795e\u7ecf\u75c7\u72b6\u3002<\/p>\n\n\n\n<p><strong>\u75c7\u72b6 | Symptoms<\/strong><\/p>\n\n\n\n<p><strong>\u91cd\u75c7\u578b\uff08\u65b0\u751f\u513f\u578b\uff0c\u6700\u5e38\u89c1\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u53d1\u75c5\u65f6\u95f4<\/strong>\uff1a\u751f\u540e2\u301c5\u5929<br><\/li>\n\n\n\n<li><strong>\u5178\u578b\u8868\u73b0<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u55dc\u7761\u3001\u53cd\u5e94\u51cf\u5f31<br><\/li>\n\n\n\n<li>\u808c\u5f20\u529b\u4f4e\u4e0b<br><\/li>\n\n\n\n<li>\u62bd\u6410\uff08\u5c24\u5176\u808c\u9635\u631b\u6027\u53d1\u4f5c\uff09<br><\/li>\n\n\n\n<li>\u81ea\u4e3b\u547c\u5438\u56f0\u96be\uff08\u65e0\u547c\u5438\uff09<br><\/li>\n\n\n\n<li>\u6301\u7eed\u6253\u55dd<br><\/li>\n\n\n\n<li>\u660f\u8ff7<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8f85\u52a9\u68c0\u67e5<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>EEG\uff1a\u7206\u53d1-\u6291\u5236\u6a21\u5f0f\uff08burst-suppression\uff09<br><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>MRI\uff1a\u80fc\u80dd\u4f53\u53d1\u80b2\u5f02\u5e38\u3001\u5c0f\u8111\u6216\u8111\u5e72\u4fe1\u53f7\u5f02\u5e38<\/p>\n\n\n\n<p><strong>\u8f7b\u75c7\u578b\uff08\u7f13\u6162\u8fdb\u5c55\u578b\/\u8fdf\u53d1\u578b\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u53d1\u75c5\u65f6\u95f4<\/strong>\uff1a\u65b0\u751f\u513f\u671f\u81f3\u5a74\u513f\u671f<br><\/li>\n\n\n\n<li><strong>\u8868\u73b0<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u53d1\u80b2\u8fdf\u7f13\uff0c\u4f46\u90e8\u5206\u8fd0\u52a8\u548c\u8bed\u8a00\u80fd\u529b\u53ef\u53d1\u80b2<br><\/li>\n\n\n\n<li>\u8f7b\u5fae\u62bd\u6410\u3001\u6ce8\u610f\u529b\u7f3a\u9677\u3001\u80a2\u4f53\u75c9\u631b\u6216\u4e0d\u81ea\u4e3b\u8fd0\u52a8\uff08\u821e\u8e48\u6837\u52a8\u4f5c\uff09<br><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>\u665a\u53d1\u578b\uff08\u5c11\u89c1\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u53d1\u75c5\u65f6\u95f4<\/strong>\uff1a2\u5c81\u4ee5\u540e<br><\/li>\n\n\n\n<li><strong>\u8868\u73b0<\/strong>\uff1a\u89c6\u795e\u7ecf\u840e\u7f29\u3001\u75c9\u631b\u6027\u622a\u762b\u3001\u8ba4\u77e5\u969c\u788d<br><\/li>\n<\/ul>\n\n\n\n<p><strong>\u4e00\u8fc7\u6027\u578b\uff08\u6781\u5c11\u89c1\uff0c\u9884\u540e\u826f\u597d\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8868\u73b0<\/strong>\uff1a\u751f\u540e\u6570\u5468\u77ed\u6682\u51fa\u73b0\u75c7\u72b6\uff0c\u968f\u540e\u81ea\u7136\u6062\u590d<br><\/li>\n<\/ul>\n\n\n\n<p><strong>\u673a\u5236<\/strong>\uff1a\u591a\u4e3a\u809d\u810f\u6216\u8111\u5185\u9176\u6210\u719f\u5ef6\u8fdf\u6240\u81f4<\/p>\n\n\n\n<p><strong>\u68c0\u67e5\u4e0e\u8bca\u65ad | Testing &amp; Diagnosis<\/strong><\/p>\n\n\n\n<p><strong>\u5b9e\u9a8c\u5ba4\u68c0\u67e5<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8840\u6d46\u7518\u6c28\u9178\uff1a\u663e\u8457\u5347\u9ad8\uff08>426 \u03bcmol\/L\uff09<br><\/li>\n\n\n\n<li>\u8111\u810a\u6db2\u7518\u6c28\u9178\uff1a\u91cd\u75c7\u5e38 >230 \u03bcmol\/L<br><\/li>\n\n\n\n<li>\u8111\u810a\u6db2\/\u8840\u6d46\u6bd4\u503c\uff08CSF\/plasma ratio\uff09\uff1a>0.08 \u5f3a\u70c8\u63d0\u793aNKH<br><\/li>\n<\/ul>\n\n\n\n<p><strong>\u5f71\u50cf\u5b66\u68c0\u67e5<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>MRI<\/strong>\uff1a\u80fc\u80dd\u4f53\u53d1\u80b2\u4e0d\u5168\u3001\u5c0f\u8111\u6216\u8111\u5e72\u5f02\u5e38\u3001\u8111\u840e\u7f29<br><\/li>\n\n\n\n<li><strong>MRS<\/strong>\uff1a\u53ef\u68c0\u6d4b\u7518\u6c28\u9178\u5cf0\uff083.6 ppm\uff09<br><\/li>\n<\/ul>\n\n\n\n<p><strong>\u9057\u4f20\u5b66\u68c0\u67e5<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u57fa\u56e0\u591a\u91cd\u9762\u677f\u68c0\u6d4b\uff08GLDC\u3001AMT\u3001GCSH\u7b49\uff09<br><\/li>\n\n\n\n<li>\u5168\u5916\u663e\u5b50\u6d4b\u5e8f\uff08Whole Exome Sequencing, WES\uff09\u63a8\u8350<br><\/li>\n<\/ul>\n\n\n\n<p>\u6709\u5bb6\u65cf\u53f2\u8005\u53ef\u884c\u4ea7\u524d\u8bca\u65ad\u6216\u643a\u5e26\u8005\u7b5b\u67e5<\/p>\n\n\n\n<p><strong>\u6cbb\u7597\u4e0e\u7ba1\u7406 | Treatment &amp; Management<\/strong><\/p>\n\n\n\n<p><strong>\u964d\u4f4e\u7518\u6c28\u9178\u6d53\u5ea6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u82ef\u7532\u9178\u94a0\uff08Sodium Benzoate\uff09<\/strong><strong><br><\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e0e\u7518\u6c28\u9178\u7ed3\u5408\u4fc3\u8fdb\u5c3f\u4e2d\u6392\u51fa<br><\/li>\n\n\n\n<li>\u5242\u91cf\uff1a200\u301c750 mg\/kg\/\u65e5<br><\/li>\n\n\n\n<li>\u76ee\u6807\uff1a\u8840\u6d46\u7518\u6c28\u9178\u7ef4\u6301\u5728120\u301c300 \u03bcmol\/L<br><\/li>\n\n\n\n<li>\u526f\u4f5c\u7528\uff1a\u80c3\u80a0\u4e0d\u9002\u3001\u8089\u78b1\u7f3a\u4e4f<br><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>NMDA\u53d7\u4f53\u62ee\u6297\u5242<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u53f3\u7f8e\u6c99\u82ac\uff08Dextromethorphan\uff09<\/strong><strong><br><\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6291\u5236\u795e\u7ecf\u8fc7\u5ea6\u5174\u594b\uff0c\u8f85\u52a9\u63a7\u5236\u62bd\u6410<br><\/li>\n\n\n\n<li>\u5242\u91cf\uff1a3\u301c15 mg\/kg\/\u65e5<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u5176\u4ed6\u53ef\u9009\uff1a\u6c2f\u80fa\u916e\uff08Ketamine\uff09\u3001\u975e\u5df4\u6bd4\u59a5\u7c7b\u6297\u766b\u75eb\u836f\uff08Felbamate\uff09<br><\/li>\n<\/ul>\n\n\n\n<p><strong>\u766b\u75eb\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5e38\u7528\u65b9\u6848\uff1a\u82ef\u7532\u9178\u94a0 + \u53f3\u7f8e\u6c99\u82ac \u00b1 \u6c2f\u5df4\u5360\uff08Clobazam\uff09<br><\/li>\n\n\n\n<li>\u96be\u6cbb\u6027\u766b\u75eb\uff1a\u916e\u996e\u98df\u7597\u6cd5\u3001\u8ff7\u8d70\u795e\u7ecf\u523a\u6fc0\u7597\u6cd5<br><\/li>\n\n\n\n<li>\u7981\u5fcc\u836f\u7269\uff1a\u4e19\u620a\u9178\u94a0\u3001vigabatrin\uff08\u53ef\u52a0\u91cd\u75c7\u72b6\uff09<br><\/li>\n<\/ul>\n\n\n\n<p><strong>\u652f\u6301\u6cbb\u7597<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7269\u7406\u3001\u4f5c\u4e1a\u3001\u8bed\u8a00\u6cbb\u7597<br><\/li>\n\n\n\n<li>\u8425\u517b\u652f\u6301\uff08\u5982\u9f3b\u80c3\u7ba1\u6216\u80c3\u9020\u53e3\uff09<br><\/li>\n\n\n\n<li>\u5b9a\u671f\u8fdb\u884c\u547c\u5438\u3001\u9aa8\u79d1\u3001\u5fc3\u810f\u68c0\u67e5<br><\/li>\n\n\n\n<li>\u6559\u80b2\u4e0e\u5eb7\u590d\u652f\u6301<br><\/li>\n<\/ul>\n\n\n\n<p><strong>\u9884\u540e | Prognosis<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u91cd\u75c7\u578b\uff08\u65b0\u751f\u513f\u578b\uff09<\/strong>\uff1a\u9884\u540e\u5dee\uff0c\u5e38\u5728\u51fa\u751f\u6570\u5468\u5185\u6b7b\u4ea1\uff0c\u5b58\u6d3b\u8005\u5927\u591a\u6709\u91cd\u5ea6\u667a\u529b\u53ca\u8fd0\u52a8\u969c\u788d\uff0c\u4f34\u96be\u6cbb\u6027\u766b\u75eb\u3002<br><\/li>\n\n\n\n<li><strong>\u8f7b\u75c7\u578b\uff08\u7f13\u6162\u8fdb\u5c55\u578b\uff09<\/strong>\uff1a\u53d1\u80b2\u7a0b\u5ea6\u5dee\u5f02\u8f83\u5927\uff0c\u6709\u7684\u60a3\u8005\u53ef\u8fbe\u5230\u4e00\u5b9a\u81ea\u7406\u80fd\u529b\u5e76\u53c2\u4e0e\u793e\u4f1a\u6d3b\u52a8\u3002<br><\/li>\n\n\n\n<li><strong>\u4e00\u8fc7\u6027\u578b<\/strong>\uff1a\u9884\u540e\u76f8\u5bf9\u826f\u597d\u3002<br><\/li>\n<\/ul>\n\n\n\n<p><strong>\u9884\u540e\u6307\u6807<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8111\u810a\u6db2\u7518\u6c28\u9178 >230 \u03bcmol\/L\uff1a\u63d0\u793a\u91cd\u75c7<br><\/li>\n\n\n\n<li>\u8111\u810a\u6db2\/\u8840\u6d46\u6bd4\u503c >0.08\uff1a\u6709\u8bca\u65ad\u610f\u4e49<br><\/li>\n\n\n\n<li>MRI\u663e\u793a\u80fc\u80dd\u4f53\u5f02\u5e38\u6216\u8111\u840e\u7f29\uff1a\u63d0\u793a\u75c5\u60c5\u4e25\u91cd<br><\/li>\n<\/ul>\n\n\n\n<p>\u5b58\u5728\u821e\u8e48\u6837\u52a8\u4f5c\uff1a\u591a\u4e3a\u8f7b\u75c7\u8868\u73b0<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8F%82%E8%80%83\"><\/span>\u53c2\u8003<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1357\/\">Van Hove JLK, Coughlin C II, Swanson M, et al. Nonketotic Hyperglycinemia. 2002 Nov 14 [Updated 2019 May 23]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1357\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s41983-022-00567-6\">Bhumika, S., Basalingappa, K.M., Gopenath, T.S. <em>et al.<\/em> Glycine encephalopathy. <em>Egypt J Neurol Psychiatry Neurosurg<\/em> <strong>58<\/strong>, 132 (2022). https:\/\/doi.org\/10.1186\/s41983-022-00567-6<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fneur.2024.1440883\">Zhou, Zhizi, et al. \u2018Natural History and Outcome of Nonketotic Hyperglycinemia in China\u2019. <em>Frontiers in Neurology<\/em>, vol. 15, Aug. 2024, p. 1440883. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.3389\/fneur.2024.1440883.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s12640-024-00711-5\">Leipnitz, G., da Rosa, J.S. &amp; Wajner, M. The Role of Excitotoxicity, Oxidative Stress and Bioenergetics Disruption in the Neuropathology of Nonketotic Hyperglycinemia. <em>Neurotox Res<\/em> <strong>42<\/strong>, 32 (2024). https:\/\/doi.org\/10.1007\/s12640-024-00711-5<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/ccr3.70035\">Parviz, Samaneh, and Dariush Hooshyar. \u2018Neonatal Nonketotic Hyperglycinemia: A Severe Case With Prenatal Indicators and Comprehensive Review of Recognition and Management\u2019. <em>Clinical Case Reports<\/em>, vol. 13, no. 1, Jan. 2025, p. e70035. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1002\/ccr3.70035.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/epi4.13121\">Tokatly Latzer, Itay, and Phillip L. Pearl. \u2018Inherited Metabolic Epilepsies\u2013Established Diseases, New Approaches\u2019. <em>Epilepsia Open<\/em>, Dec. 2024, p. epi4.13121. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1002\/epi4.13121.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39460617\/\">Perez G, Barber GP, Benet-Pages A, Casper J, Clawson H, Diekhans M, Fischer C, Gonzalez JN, Hinrichs AS, Lee CM, Nassar LR, Raney BJ, Speir ML, van Baren MJ, Vaske CJ, Haussler D, Kent WJ, Haeussler M. The UCSC Genome Browser database: 2025 update. Nucleic Acids Res. 2025 Jan 6;53(D1):D1243-D1249. doi: 10.1093\/nar\/gkae974. PMID: 39460617; PMCID: PMC11701590.<\/a><\/li>\n<\/ul>\n\n\n\n<!-- \u3042\u3044\u3046\u3048\u304a\u304b\u304d\u304f\u3051\u3053\u3055\u3057\u3059\u305b\u305d\u305f\u3061\u3064\u3066\u3068-->\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@graph\": [\n    {\n      \"@type\": \"WebPage\",\n      \"@id\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\",\n      \"url\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\",\n      \"name\": \"\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\u3068\u306f\uff1f\u539f\u56e0\u30fb\u75c7\u72b6\u30fb\u6cbb\u7642\u6cd5\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\",\n      \"inLanguage\": \"ja\",\n      \"description\": \"\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\uff08\u975e\u30b1\u30c8\u30f3\u6027\u9ad8\u30b0\u30ea\u30b7\u30f3\u8840\u75c7\uff09\u306f\u3001\u4f53\u5185\u306b\u30b0\u30ea\u30b7\u30f3\u304c\u904e\u5270\u306b\u84c4\u7a4d\u3055\u308c\u308b\u3053\u3068\u3067\u3001\u3051\u3044\u308c\u3093\u3001\u7b4b\u529b\u4f4e\u4e0b\u3001\u767a\u9054\u306e\u9045\u308c\u3092\u5f15\u304d\u8d77\u3053\u3059\u307e\u308c\u306a\u907a\u4f1d\u6027\u4ee3\u8b1d\u75be\u60a3\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u305d\u306e\u539f\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u3068\u4e88\u5f8c\u306b\u3064\u3044\u3066\u3084\u3055\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002\"\n    },\n    {\n      \"@type\": \"Article\",\n      \"mainEntityOfPage\": {\n        \"@id\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\"\n      },\n      \"headline\": \"\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\u3068\u306f\uff1f\u539f\u56e0\u30fb\u75c7\u72b6\u30fb\u6cbb\u7642\u6cd5\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\",\n      \"description\": \"\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\uff08\u975e\u30b1\u30c8\u30f3\u6027\u9ad8\u30b0\u30ea\u30b7\u30f3\u8840\u75c7\uff09\u306e\u539f\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u6cd5\u3001\u4e88\u5f8c\u306b\u3064\u3044\u3066\u3001\u5c02\u9580\u5bb6\u3068\u3054\u5bb6\u65cf\u306e\u53cc\u65b9\u306b\u5411\u3051\u3066\u3084\u3055\u3057\u304f\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002\",\n      \"datePublished\": \"2025-06-13\",\n      \"inLanguage\": \"ja\",\n      \"author\": {\n        \"@type\": \"Person\",\n        \"name\": \"HUMEDIT Contents Team\"\n      },\n      \"publisher\": {\n        \"@type\": \"Organization\",\n        \"name\": \"\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\",\n        \"url\": \"https:\/\/www.hiro-clinic.or.jp\"\n      }\n    },\n    {\n      \"@type\": \"MedicalCondition\",\n      \"name\": \"\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\uff08\u975e\u30b1\u30c8\u30f3\u6027\u9ad8\u30b0\u30ea\u30b7\u30f3\u8840\u75c7\uff09\",\n      \"alternateName\": \"Glycine Encephalopathy (Nonketotic Hyperglycinemia)\",\n      \"description\": \"\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\u306f\u3001\u30b0\u30ea\u30b7\u30f3\u3068\u3044\u3046\u30a2\u30df\u30ce\u9178\u304c\u904e\u5270\u306b\u305f\u307e\u308b\u3053\u3068\u3067\u3001\u795e\u7d4c\u7cfb\u306b\u6df1\u523b\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3059\u307e\u308c\u306a\u4ee3\u8b1d\u6027\u75be\u60a3\u3067\u3059\u3002\u4e3b\u306b\u65b0\u751f\u5150\u671f\u306b\u767a\u75c7\u3057\u3001\u3051\u3044\u308c\u3093\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u7121\u547c\u5438\u3001\u767a\u9054\u969c\u5bb3\u306a\u3069\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\",\n      \"cause\": {\n        \"@type\": \"MedicalCause\",\n        \"name\": \"AMT\u907a\u4f1d\u5b50\uff08aminomethyltransferase\uff09\u306e\u5909\u7570\u306b\u3088\u308b\u30b0\u30ea\u30b7\u30f3\u958b\u88c2\u7cfb\u306e\u6a5f\u80fd\u4e0d\u5168\"\n      },\n      \"possibleTreatment\": [\n        {\n          \"@type\": \"MedicalTherapy\",\n          \"name\": \"\u30d9\u30f3\u30be\u30a8\u30fc\u30c8\u30ca\u30c8\u30ea\u30a6\u30e0\u306b\u3088\u308b\u30b0\u30ea\u30b7\u30f3\u6392\u51fa\u4fc3\u9032\u7642\u6cd5\"\n        },\n        {\n          \"@type\": \"MedicalTherapy\",\n          \"name\": \"\u30c7\u30ad\u30b9\u30c8\u30ed\u30e1\u30c8\u30eb\u30d5\u30a1\u30f3\u306b\u3088\u308bNMDA\u53d7\u5bb9\u4f53\u306e\u6291\u5236\u7642\u6cd5\"\n        },\n        {\n          \"@type\": \"MedicalTherapy\",\n          \"name\": \"\u3051\u3044\u308c\u3093\u7ba1\u7406\u306e\u305f\u3081\u306e\u6297\u3066\u3093\u304b\u3093\u85ac\"\n        }\n      ],\n      \"symptom\": [\n        \"\u65b0\u751f\u5150\u3051\u3044\u308c\u3093\",\n        \"\u7b4b\u529b\u306e\u4f4e\u4e0b\uff08\u4f4e\u7dca\u5f35\uff09\",\n        \"\u55dc\u7720\u3084\u7121\u53cd\u5fdc\",\n        \"\u547c\u5438\u505c\u6b62\uff08\u7121\u547c\u5438\uff09\",\n        \"\u767a\u9054\u306e\u9045\u308c\",\n        \"\u6301\u7d9a\u7684\u306a\u3057\u3083\u3063\u304f\u308a\"\n      ]\n    }\n  ]\n}\n<\/script>\n","protected":false},"excerpt":{"rendered":"\u57fa\u56e0\u533a\u57df | Implicated Ge&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":79,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[14],"tags":[],"class_list":["post-111662","post","type-post","status-publish","format-standard","hentry","category-other-zh-hans"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111662","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/79"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=111662"}],"version-history":[{"count":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111662\/revisions"}],"predecessor-version":[{"id":111679,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111662\/revisions\/111679"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=111662"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=111662"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=111662"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}