| H00147 | |
| H番号 | H00147 |
| 名称 | シアル酸尿症 |
| 概要 | Salla disease (SD) and infantile sialic acid storage disorder (ISSD) are rare autosomal recessive lysosomal storage diseases caused by mutations in SLC17A5 gene which codes for the protein sialin. Sialin is lysosomal membrane transporter that exports free sialic acid from lysosomes and deficient of sialin results in excessive lysosomal storage of free sialic acid. ISSD has a severe phenotype with infantile onset, while the SD has a milder phenotype with later onset. Both disorders cause developmental delay, and ISSD is generally fatal in early childhood. The differential diagnosis of free sialic acid storage also includes French type sialuria, a disorder due to mutations in the UDP-GlcNAc 2-epimerase (GNE), the key enzyme for the biosynthesis of sialic acid. |
| カテゴリ | 先天性代謝異常症, ライソゾーム病 |
| ネットワーク | - |
| 病因遺伝子 | (SD, ISSD) SLC17A5 [HSA:26503] [KO:K12301] (French type) GNE [HSA:10020] [KO:K12409] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C56.4 ICD-10: E88.8 MeSH: D029461 OMIM: 269920 604369 269921 |
| 文献 | PMID:10863944 著者 Mancini GM, Havelaar AC, Verheijen FW タイトル Lysosomal transport disorders. 雑誌 J Inherit Metab Dis 23:278-92 (2000) DOI:10.1023/A:1005640214408 PMID:15172001 (SLC17A5) 著者 Kleta R, Morse RP, Orvisky E, Krasnewich D, Alroy J, Ucci AA, Bernardini I, Wenger DA, Gahl WA タイトル Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity. 雑誌 Mol Genet Metab 82:137-43 (2004) DOI:10.1016/j.ymgme.2004.03.001 PMID:17706199 (GNE) 著者 Bork K, Reutter W, Weidemann W, Horstkorte R タイトル Enhanced sialylation of EPO by overexpression of UDP-GlcNAc 2-epimerase/ManAc kinase containing a sialuria mutation in CHO cells. 雑誌 FEBS Lett 581:4195-8 (2007) DOI:10.1016/j.febslet.2007.07.060 |