Acatalasia
| Acatalasia | |
|---|---|
Basic structure of a peroxisome
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| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 247: invalid escape sequence near '"^'. |
| ICD-10 | E80.3 |
| ICD-9-CM | 277.89 |
| OMIM | 115500 |
| DiseasesDB | 30598 |
| Patient UK | Acatalasia |
| MeSH | D020642 |
Acatalasia (also called acatalasemia, or Takahara's disease[1]:809) is an autosomal recessive peroxisomal disorder caused by a complete lack of catalase.
Presentation
The disorder is relatively benign, although it causes an increased incidence of periodontal infections, and can under rare circumstances lead to gangrene.[2]
Genetic Basis
Occurrence of acatalasia is often the result of mutation in the CAT gene which codes for the enzyme catalase.[3]
Occurrence
Researchers estimate that the condition occurs in every 12,500th person in Japan, every 20,000th in Hungary, and every 20,000th person in Switzerland.[3]
History
In 1948, Dr. Shigeo Takahara (1908–1994), a Japanese otolaryngologist first reported this new disease.[4] He had examined a patient with an oral ulcer. He had spread hydrogen peroxide on the diseased part, but oxygen was not generated due to the lack of catalase.
See also
References
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- ↑ Takahara, S.; Miyamoto, H. Three cases of progressive oral gangrene due to lack of catalase in the blood. Nippon Jibi-Inkoka Gakkai Kaiho 51: 163 only, 1948.
