Acatalasia

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Akatalasämie , catalase deficiency , Takahara's disease , Anenzymia catalasea is an autosomal - recessive peroxisomal disorder which from a lack of the enzyme catalase is caused.

Symptoms, cause and frequency

The disorder is relatively benign, although it increases the incidence of periodontal inflammation and, in rare cases, can also lead to gangrene .

The occurrence of akatalasia is often a result of a mutation in the CAT gene, which stands for the enzyme catalase.

Researchers estimate that around every 12,500th person in Japan and every 20,000th person in Hungary and Switzerland is affected.

history

In 1948, Shigeo Takahara first documented the disease after examining a patient with an oral ulcer . The disease was noticed after he had sprayed hydrogen peroxide on the affected area and no oxygen was produced due to the lack of catalase .

literature

  • J. Gross, B. Scherz, S. Wyss, W. Künzel, HJ Maiwald, A. Hartwig, H. Polster: Characterization of the catalase of red blood cells in a patient with the symptoms of Takahara disease. In: Pediatric Practice. April 45, 1977, pp. 168-175, ISSN  0023-1495 .
  • Acatalasia. In: Lexicon of Biology. Spectrum Academic Publishing House, Heidelberg 1999, Spektrum.de .

Individual evidence

  1. ↑ Akatalasia. Retrieved April 16, 2016 .
  2. ^ S. Takahara, HB Hamilton, JV Neel, TY Kobara, Y. Ogura, ET Nishimura: Hypocatalasemia: a new genetic carrier state . In: The Journal of Clinical Investigation . tape 39 , April 1, 1960, ISSN  0021-9738 , p. 610-619 , doi : 10.1172 / JCI104075 , PMID 13836629 .
  3. ↑ a b Acatalasemia . Retrieved September 28, 2015.
  4. ^ S. Takahara, H. Miyamoto: Three Cases of Progressive Oral Gangrene Due to Lack of Catalase in the Blood. In: Nippon Jibiinkoka Gakkai Kaiho. 51, 1948, p. 163 ( Journal of Otolaryngology of Japan. )