| H00203 | |
| H number | H00203 |
| Name | Acatalasemia; Takahara disease |
| Description | 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. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | CAT [HSA:847] [KO:K03781] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C57.Y ICD-10: E80.3 MeSH: D020642 OMIM: 614097 |
| Reference | PMID:19122680 AUTHORS Ogata M, Wang DH, Ogino K TITLE Mammalian acatalasemia: the perspectives of bioinformatics and genetic toxicology. JOURNAL Acta Med Okayama 62:345-61 (2008) DOI:10.18926/AMO/30951 PMID:15771551 AUTHORS Goth L, Rass P, Pay A TITLE Catalase enzyme mutations and their association with diseases. JOURNAL Mol Diagn 8:141-9 (2004) DOI:10.1007/bf03260057 PMID:11500062 AUTHORS Goth L TITLE A new type of inherited catalase deficiencies: its characterization and comparison to the Japanese and Swiss type of acatalasemia. JOURNAL Blood Cells Mol Dis 27:512-7 (2001) DOI:10.1006/bcmd.2001.0415 PMID:17034877 AUTHORS Schrader M, Fahimi HD TITLE Peroxisomes and oxidative stress. JOURNAL Biochim Biophys Acta 1763:1755-66 (2006) DOI:10.1016/j.bbamcr.2006.09.006 |