AcatalasemiaE80.3

Author:Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 29.10.2020

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Synonym(s)

Acatalasemia; Acatalasia; catalase deficiency; OMIM 115500; Takahara Disease

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HistoryThis section has been translated automatically.

Takahara and Miyamoto, 1948

DefinitionThis section has been translated automatically.

Autosomal-recessive inherited enzymopathy with absence of catalase in blood and tissue. The hydrogen peroxide formed by greening streptococci in the oral cavity cannot be cleaved, resulting in recurrent ulcers.

Occurrence/EpidemiologyThis section has been translated automatically.

Especially Japan and Korea.

EtiopathogenesisThis section has been translated automatically.

Autosomal dominant inheritance of mutations of the catalase gene (CAT gene; gene locus: 11p13).

ManifestationThis section has been translated automatically.

Childhood.

Clinical featuresThis section has been translated automatically.

About 50% of homozygous carriers have symptoms of varying severity: recurrent ulcers and ulcers in the mouth and throat, alveolar gangrene, severe destruction of the oral cavity by deep gangrene inflammation.

DiagnosisThis section has been translated automatically.

The blood of the affected patients turns black when H2O2 is added, catalase in the serum is lowered.

TherapyThis section has been translated automatically.

Radical tooth extraction for the rehabilitation of the oral flora, as H2O2-forming streptococci adhere to the teeth. Curettage of granulation tissue, antibiotics after antibiogram. Therapy in cooperation with internists.

LiteratureThis section has been translated automatically.

  1. Agar NS, Sadrzadeh SMH, Hallaway PE, Eaton JW (1981) Erythrocyte catalase: a somatic oxidant defense? J Clin Invest 77: 319-21
  2. Goth L (2001) A new type of inherited catalase deficiencies: its characterization and comparison to the Japanese and Swiss type of acatalasemia. Blood Cells Mol Dis 27: 512-517
  3. Matsunaga T, Seger R, Hoger P et al (1985) Congenital acatalasemia: a study of neutrophil functions after provocation with hydrogen peroxide. Pediat Res 19: 1187-1190
  4. Takahara S, Miyamoto H (1948) Three cases of progressive oral gangrene due to lack of catalase in the blood. Nippon Jibi-Inkoka Gakkai Kaiho 51: 163
  5. Takahara S (1952) Progressive oral gangrene probably due to lack of catalase, in the blood. Lancet II: 1101

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer