Acatalasia

Acatalasia
Basic structure of a peroxisome
Classification and external resources
Specialty	endocrinology
ICD-10	E80.3
ICD-9-CM	277.89
OMIM	115500
DiseasesDB	30598
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

• List of cutaneous conditions

References

1. James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
2. Takahara, Shigeo; Hamilton, H. B.; Neel, J. V.; Kobara, T. Y.; Ogura, Y.; Nishimura, E. T. (1960). "Hypocatalasemia: a new genetic carrier state". Journal of Clinical Investigation. 39 (4). doi:10.1172/JCI104075.
3. "Acatalasemia". Genetics Home Reference. Retrieved 2015-09-28.
4. 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.