Acatalasemia

Definition:

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.

References:

[1]. L Góth, et al. A new type of inherited catalase deficiencies: its characterization and comparison to the Japanese and Swiss type of acatalasemia. Blood Cells Mol Dis. 2001 Mar-Apr;27(2):512-7. [Content Brief]

[2]. László Góth, et al. Catalase enzyme mutations and their association with diseases. Mol Diagn. 2004;8(3):141-9. [Content Brief]

[3]. Masana Ogata, et al. Mammalian acatalasemia: the perspectives of bioinformatics and genetic toxicology. Acta Med Okayama. 2008 Dec;62(6):345-61. [Content Brief]

[4]. Michael Schrader, et al. Peroxisomes and oxidative stress. Biochim Biophys Acta. 2006 Dec;1763(12):1755-66. [Content Brief]

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