Acatalasia, including:
Acatalasemia;
Takahara's disease;
Hypocatalasemia

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.

Inherited metabolic disease; Peroxisomal disease

CAT; catalase [HSA:847] [KO:K03781]

PMID:19122680

Ogata M, Wang DH, Ogino K

Mammalian acatalasemia: the perspectives of bioinformatics and genetic toxicology.

Acta Med Okayama 62:345-61 (2008)

PMID:15771551

Goth L, Rass P, Pay A

Catalase enzyme mutations and their association with diseases.

Mol Diagn 8:141-9 (2004)

PMID:11500062

Goth L

A new type of inherited catalase deficiencies: its characterization and comparison to the Japanese and Swiss type of acatalasemia.

Blood Cells Mol Dis 27:512-7 (2001)

PMID:17034877

Schrader M, Fahimi HD

Peroxisomes and oxidative stress.

Biochim Biophys Acta 1763:1755-66 (2006)