Acatalasemia E80.3

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

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

History
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Takahara and Miyamoto, 1948

Definition
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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/Epidemiology
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Especially Japan and Korea.

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

Manifestation
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Childhood.

Clinical features
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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.

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

Therapy
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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.

Literature
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  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

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 29.10.2020