| H00203 | |
| H番号 | H00203 |
| 名称 | 無カタラーゼ血症; 高原病 |
| 概要 | Acatalasemia, also known as acatalasia, is an autosomal recessive peroxisomal disorder caused by deficiency of erythrocyte catalase that metabolizes both hydrogen peroxide and a variety of substrates such as ethanol, methanol, phenol and nitrites. Catalase has an important protective function against the toxic effects of peroxides generated in peroxisomes and removes them with high efficiency. The Japanese, Swiss, and Hungarian types of acatalasemia display differences in biochemical and genetic aspects. Takahara's disease shows progressive oral gangrene and formerly occurred in about half of Japanese acatalasemia patients. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | CAT [HSA:847] [KO:K03781] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C57.Y ICD-10: E80.3 MeSH: D020642 OMIM: 614097 |
| 文献 | PMID:19122680 著者 Ogata M, Wang DH, Ogino K タイトル Mammalian acatalasemia: the perspectives of bioinformatics and genetic toxicology. 雑誌 Acta Med Okayama 62:345-61 (2008) DOI:10.18926/AMO/30951 PMID:15771551 著者 Goth L, Rass P, Pay A タイトル Catalase enzyme mutations and their association with diseases. 雑誌 Mol Diagn 8:141-9 (2004) DOI:10.1007/bf03260057 PMID:11500062 著者 Goth L タイトル A new type of inherited catalase deficiencies: its characterization and comparison to the Japanese and Swiss type of acatalasemia. 雑誌 Blood Cells Mol Dis 27:512-7 (2001) DOI:10.1006/bcmd.2001.0415 PMID:17034877 著者 Schrader M, Fahimi HD タイトル Peroxisomes and oxidative stress. 雑誌 Biochim Biophys Acta 1763:1755-66 (2006) DOI:10.1016/j.bbamcr.2006.09.006 |