| H00272 | |
| H番号 | H00272 |
| 名称 | マルチプルスルファターゼ欠損症 |
| 概要 | Multiple sulfatase deficiency (MSD) is a rare autosomal recessive lysosomal storage disorder caused by deficiency of sulfatase modifying factor 1 (SUMF1), which posttranslationally activates lysosomal sulfatases by generating formylglycine in their catalytic sites. MSD is known to combine sulfatase deficiency and clinical features of metachromatic leukodystrophy [DS:H00127]. The clinical course ranges from neonatal severe to mild juvenile cases. |
| 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 | SUMF1 [HSA:285362] [KO:K13444] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C56.02 ICD-10: E75.2 MeSH: D052517 OMIM: 272200 |
| 文献 | PMID:18157819 著者 Schlotawa L, Steinfeld R, von Figura K, Dierks T, Gartner J タイトル Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency. 雑誌 Hum Mutat 29:205 (2008) DOI:10.1002/humu.9515 PMID:12757705 著者 Dierks T, Schmidt B, Borissenko LV, Peng J, Preusser A, Mariappan M, von Figura K タイトル Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme. 雑誌 Cell 113:435-44 (2003) DOI:10.1016/S0092-8674(03)00347-7 PMID:1883197 著者 Neufeld EF タイトル Lysosomal storage diseases. 雑誌 Annu Rev Biochem 60:257-80 (1991) DOI:10.1146/annurev.bi.60.070191.001353 PMID:19124046 著者 Dierks T, Schlotawa L, Frese MA, Radhakrishnan K, von Figura K, Schmidt B タイトル Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins. 雑誌 Biochim Biophys Acta 1793:710-25 (2009) DOI:10.1016/j.bbamcr.2008.11.015 |