KEGG   DISEASE: H00203Help
Entry
H00203                      Disease                                

Name
Acatalasia, including:
Acatalasemia;
Takahara's disease;
Hypocatalasemia
Description
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 disease; Peroxisomal disease
BRITE hierarchy
Pathway
Tryptophan metabolism
Methane metabolism
Peroxisome
Gene
CAT; catalase [HSA:847] [KO:K03781]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  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)
Reference
  Authors
Goth L, Rass P, Pay A
  Title
Catalase enzyme mutations and their association with diseases.
  Journal
Mol Diagn 8:141-9 (2004)
Reference
  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)
Reference
  Authors
Schrader M, Fahimi HD
  Title
Peroxisomes and oxidative stress.
  Journal
Biochim Biophys Acta 1763:1755-66 (2006)

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