{"id":121777,"date":"2026-01-07T17:06:58","date_gmt":"2026-01-07T08:06:58","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=121777"},"modified":"2026-03-03T17:59:55","modified_gmt":"2026-03-03T08:59:55","slug":"salla-disease","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/salla-disease\/","title":{"rendered":"\u30b5\u30e9\u30fc\u75c5"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u6982\u8981<\/strong><\/h2>\n\n\n\n<p>\u30b5\u30e9\u30fc\u75c5\u306f\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u819c\u306b\u5b58\u5728\u3059\u308b\u30b7\u30a2\u30eb\u9178\u30c8\u30e9\u30f3\u30b9\u30dd\u30fc\u30bf\u30fc\u300c<strong>\u30b7\u30a2\u30ea\u30f3\uff08sialin\uff09<\/strong>\u300d\u306e\u6a5f\u80fd\u4f4e\u4e0b\u306b\u3088\u308a\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u5185\u306b<strong>\u904a\u96e2\u30b7\u30a2\u30eb\u9178\uff08free sialic acid\uff09\u304c\u84c4\u7a4d<\/strong>\u3059\u308b\u3053\u3068\u3067\u767a\u75c7\u3059\u308b <strong>\u904a\u96e2\u30b7\u30a2\u30eb\u9178\u84c4\u7a4d\u75c7\uff08Free sialic acid storage disorder\uff1aFSASD\uff09<\/strong> \u306e\u8efd\u75c7\u578b\u306b\u4f4d\u7f6e\u3065\u3051\u3089\u308c\u308b\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002FSASD\u306f\u91cd\u75c7\u306e\u4e73\u5150\u578b\u304b\u3089\u30b5\u30e9\u30fc\u75c5\u307e\u3067\u81e8\u5e8a\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3092\u5f62\u6210\u3057\u3001\u30b5\u30e9\u30fc\u75c5\u306f\u6bd4\u8f03\u7684\u7de9\u5f90\u9032\u884c\u3067\u3042\u308b\u4e00\u65b9\u3001\u4e73\u5150\u671f\u304b\u3089\u5c0f\u5150\u671f\u306b\u304b\u3051\u3066\u795e\u7d4c\u767a\u9054\u306e\u9045\u308c\u304c\u660e\u3089\u304b\u306b\u306a\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1470\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u75ab\u5b66<\/strong><\/h2>\n\n\n\n<p>FSASD\u5168\u4f53\u3067\u5831\u544a\u4f8b\u306f<strong>300\u4f8b\u672a\u6e80<\/strong>\u3068\u3055\u308c\u3001\u30b5\u30e9\u30fc\u75c5\u306f\u7279\u306b<strong>\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\u304a\u3088\u3073\u30b9\u30a6\u30a7\u30fc\u30c7\u30f3\u7cfb<\/strong>\u3067\u591a\u304f\u3001\u30b5\u30e9\u30fc\u75c5\u3068\u3057\u3066\u306f<strong>\u7d04150\u4f8b<\/strong>\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/free-sialic-acid-storage-disorder\/?utm_source=chatgpt.com\">MedlinePlus<\/a>)<br>\u4e00\u65b9\u3001\u4e16\u754c\u5404\u5730\u304b\u3089\u6563\u767a\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u907a\u4f1d\u5f62\u5f0f\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1470\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p>\u30b5\u30e9\u30fc\u75c5\u306f <strong>SLC17A5\u907a\u4f1d\u5b50<\/strong> \u306e\u75c5\u7684\u5909\u7570\u306b\u3088\u308a\u751f\u3058\u307e\u3059\u3002SLC17A5\u306f\u30ea\u30bd\u30bd\u30fc\u30e0\u819c\u8f38\u9001\u4f53\u3067\u3042\u308b**\u30b7\u30a2\u30ea\u30f3\uff08sialin\uff09**\u3092\u30b3\u30fc\u30c9\u3057\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u5185\u5916\u306e\u30b7\u30a2\u30eb\u9178\u8f38\u9001\u306b\u95a2\u4e0e\u3057\u307e\u3059\u3002\u30b7\u30a2\u30ea\u30f3\u6a5f\u80fd\u304c\u4f4e\u4e0b\u3059\u308b\u3068\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u5185\u306b\u904a\u96e2\u30b7\u30a2\u30eb\u9178\u304c\u84c4\u7a4d\u3057\u3001\u4e3b\u306b\u4e2d\u67a2\u795e\u7d4c\u7cfb\u306e\u6a5f\u80fd\u969c\u5bb3\uff08\u767d\u8cea\u969c\u5bb3\u306a\u3069\uff09\u3078\u3064\u306a\u304c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1470\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/p>\n\n\n\n<p>\u907a\u4f1d\u5f62\u5f0f\u306f <strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/strong> \u3067\u3001\u4e21\u89aa\u304b\u3089\u305d\u308c\u305e\u308c1\u3064\u305a\u3064\u75c5\u7684\u5909\u7570\u3092\u53d7\u3051\u7d99\u3044\u3060\u5834\u5408\u306b\u767a\u75c7\u3057\u307e\u3059\u3002 (<a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/free-sialic-acid-storage-disorder\/?utm_source=chatgpt.com\">MedlinePlus<\/a>)<\/p>\n\n\n\n<p><strong>SLC17A5\u907a\u4f1d\u5b50\u306f\u5f53\u9662\u306e\u8a72\u5f53\u30d7\u30e9\u30f3\u3067\u691c\u67fb\u304c\u53ef\u80fd\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u75c7\u72b6<\/strong><\/h2>\n\n\n\n<p>\u767a\u75c7\u6642\u671f\u306f\u4e73\u5150\u671f\u301c\u5e7c\u5150\u671f\u304c\u591a\u304f\u3001\u521d\u671f\u306b\u306f\u4ee5\u4e0b\u304c\u76ee\u7acb\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08hypotonia\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u904b\u52d5\u767a\u9054\u9045\u6ede<\/strong>\uff08\u5ea7\u4f4d\u30fb\u6b69\u884c\u306e\u7372\u5f97\u9045\u308c\uff09<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u9045\u6ede\uff0f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a><\/strong> (<a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/free-sialic-acid-storage-disorder\/?utm_source=chatgpt.com\">MedlinePlus<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u6210\u9577\u306b\u4f34\u3044\u3001\u4ee5\u4e0b\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u904b\u52d5\u5931\u8abf\uff08ataxia\uff09<\/strong>\u3001\u5354\u8abf\u904b\u52d5\u969c\u5bb3<\/li>\n\n\n\n<li><strong>\u773c\u632f\uff08nystagmus\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u75d9\u7e2e\u3001\u30a2\u30c6\u30c8\u30fc\u30b7\u30b9\u69d8\u4e0d\u968f\u610f\u904b\u52d5<\/strong><\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093\u767a\u4f5c<\/strong> (<a href=\"https:\/\/plaza.umin.ac.jp\/~pmd\/guideline10.html?utm_source=chatgpt.com\">UMIN Plaza<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u753b\u50cf\u6240\u898b\u3068\u3057\u3066\u3001\u8133MRI\u3067\u767d\u8cea\u5f62\u6210\u4e0d\u5168\uff0f\u8133\u840e\u7e2e\u30fb\u5c0f\u8133\u840e\u7e2e\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/plaza.umin.ac.jp\/~pmd\/guideline10.html?utm_source=chatgpt.com\">UMIN Plaza<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad<\/strong><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u306f\u81e8\u5e8a\u50cf\u306b\u52a0\u3048\u3001\u751f\u5316\u5b66\u691c\u67fb\u3068\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u81e8\u5e8a\u8a55\u4fa1<\/strong>\uff1a\u4e73\u5150\u671f\u304b\u3089\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u767a\u9054\u9045\u6ede\u3001\u904b\u52d5\u5931\u8abf\u306a\u3069\u306e\u7d4c\u904e<\/li>\n\n\n\n<li><strong>\u751f\u5316\u5b66\u7684\u691c\u67fb<\/strong>\uff1a\u5c3f\u30fb\u57f9\u990a\u7d30\u80de\u306a\u3069\u3067\u306e<strong>\u904a\u96e2\u30b7\u30a2\u30eb\u9178\u306e\u5897\u52a0<\/strong>\uff08FSASD\u3092\u793a\u5506\uff09 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1470\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u691c\u67fb<\/strong>\uff1a\u8133MRI\u3067\u767d\u8cea\u7570\u5e38\u306a\u3069\u3092\u8a55\u4fa1 (<a href=\"https:\/\/plaza.umin.ac.jp\/~pmd\/guideline10.html?utm_source=chatgpt.com\">UMIN Plaza<\/a>)<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u8a3a\u65ad<\/strong>\uff1a<strong>SLC17A5\u907a\u4f1d\u5b50\u89e3\u6790<\/strong>\u306b\u3088\u308b\u78ba\u5b9a\u8a3a\u65ad (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1470\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642<\/strong><\/h2>\n\n\n\n<p>\u73fe\u6642\u70b9\u3067\u30b5\u30e9\u30fc\u75c5\u306b\u5bfe\u3059\u308b<strong>\u78ba\u7acb\u3057\u305f\u6839\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093<\/strong>\u3002\u6cbb\u7642\u306f\u5bfe\u75c7\u7642\u6cd5\u304a\u3088\u3073\u767a\u9054\u652f\u63f4\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u3066\u3093\u304b\u3093\u306b\u5bfe\u3059\u308b\u6297\u3066\u3093\u304b\u3093\u85ac<\/li>\n\n\n\n<li>\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u30fb\u8a00\u8a9e\u7642\u6cd5\u306a\u3069\u306e\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/li>\n\n\n\n<li>\u6804\u990a\u7ba1\u7406\u3001\u547c\u5438\u5668\u611f\u67d3\u4e88\u9632\u3092\u542b\u3080\u5168\u8eab\u7ba1\u7406<\/li>\n\n\n\n<li>\u751f\u6d3b\u652f\u63f4\uff08\u798f\u7949\u30b5\u30fc\u30d3\u30b9\u3001\u6559\u80b2\u7684\u652f\u63f4\u3001\u4f4e\u8996\u529b\u30fb\u904b\u52d5\u88dc\u52a9\u306a\u3069\uff09 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1470\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u8fd1\u5e74\u3001SLC17A5\u306e\u4ee3\u8868\u7684\u5909\u7570\u3092\u6a19\u7684\u3068\u3057\u305f<strong>\u907a\u4f1d\u5b50\u7de8\u96c6\uff08\u5869\u57fa\u7de8\u96c6\uff09\u306a\u3069\u306e\u7814\u7a76<\/strong>\u3082\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u5c06\u6765\u7684\u6cbb\u7642\u958b\u767a\u304c\u691c\u8a0e\u3055\u308c\u3066\u3044\u307e\u3059\uff08\u73fe\u6642\u70b9\u3067\u306f\u7814\u7a76\u6bb5\u968e\uff09\u3002 (<a href=\"https:\/\/www.cell.com\/molecular-therapy-family\/nucleic-acids\/fulltext\/S2162-2531%2823%2900235-4?utm_source=chatgpt.com\">Cell<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e\u5143<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Adams D, et al. <strong>GeneReviews\u00ae<\/strong>: <em>Free Sialic Acid Storage Disorder.<\/em> NCBI Bookshelf. (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1470\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>MedlinePlus Genetics<\/strong>: <em>Free sialic acid storage disorder\uff08FSASD\uff09\/ Salla disease.<\/em> (<a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/free-sialic-acid-storage-disorder\/?utm_source=chatgpt.com\">MedlinePlus<\/a>)<\/li>\n\n\n\n<li><strong>Orphanet<\/strong>: <em>Free sialic acid storage disease (ORPHA:834) \/ SLC17A5 gene information.<\/em> (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/834?utm_source=chatgpt.com\">orpha.net<\/a>)<\/li>\n\n\n\n<li>\u907a\u4f1d\u6027\u767d\u8cea\u75be\u60a3\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\uff08UMIN\uff09: <em>Salla disease\uff08SD\uff09\u6982\u8aac.<\/em> (<a href=\"https:\/\/plaza.umin.ac.jp\/~pmd\/guideline10.html?utm_source=chatgpt.com\">UMIN Plaza<\/a>)<\/li>\n\n\n\n<li>Tarailo-Graovac M, et al. <em>Orphanet Journal of Rare Diseases<\/em> (2017): SLC17A5\u5909\u7570\u3068\u30b7\u30a2\u30eb\u9178\u84c4\u7a4d\u75c7\u306e\u5206\u5b50\u6a5f\u5e8f\u3002 (<a href=\"https:\/\/link.springer.com\/article\/10.1186\/s13023-017-0584-6?utm_source=chatgpt.com\">Springer<\/a>)<\/li>\n\n\n\n<li>Harb JF, et al. <em>Molecular Therapy \u2013 Nucleic Acids<\/em> (2023): \u30b5\u30e9\u30fc\u75c5\u306e\u5171\u901a\u5909\u7570\u3092\u6a19\u7684\u3068\u3057\u305f\u5869\u57fa\u7de8\u96c6\u7814\u7a76\u3002 (<a href=\"https:\/\/www.cell.com\/molecular-therapy-family\/nucleic-acids\/fulltext\/S2162-2531%2823%2900235-4?utm_source=chatgpt.com\">Cell<\/a>)<\/li>\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-121777","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\/121777","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\/121777\/revisions"}],"predecessor-version":[{"id":125319,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/121777\/revisions\/125319"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121777"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}