Acatalasia
| Acatalasia | |
|---|---|
| Other names | Acatalasemia, or Takahara's disease[1]: 809 |
 | |
| Basic structure of a peroxisome | |
| Specialty | Endocrinology  |
Acatalasia is an autosomal recessive peroxisomal disorder caused by absent or very low levels of the enzyme catalase.[2] Catalase breaks down hydrogen peroxide in cells into water and oxygen. Low levels of catalase can cause hydrogen peroxide to build up, causing damage to cells.
Signs and symptoms
[edit]The disorder is relatively benign, although it causes an increased incidence of oral ulcers, and can under rare circumstances lead to gangrene.[3][2] Symptoms primarily affect children.[4]
Causes
[edit]Acatalasia is often the result of mutations in both copies of the CAT gene which codes for the enzyme catalase.[5] There are multiple types of mutation that can cause this condition. Inheriting a single CAT mutation results in hypocatalasia, in which catalase levels are reduced, but still at functional levels.[6]
Diagnosis
[edit]This disorder is commonly diagnosed pouring hydrogen peroxide on the patient's blood sample. Instead of a very bubbling reaction, blood turns brown-colored, which means the patient suffers from acatalasia. [citation needed]
Management
[edit]![[icon]](/wiki/File:Wiki_letter_w_cropped.svg){kind=small} | This section is empty. You can help by adding to it. (April 2017) |
Epidemiology
[edit]In parts of Japan, this condition has been found in approximately 1.4% of people.[4] Researchers estimate that the condition occurs in 1 in 20,000 people in Hungary and Switzerland.[5]
History
[edit]In 1948, Dr. Shigeo Takahara (1908–1994), a Japanese otolaryngologist first reported this new disease.[7] 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.[8]
See also
[edit]References
[edit]- ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
- ^ a b "Acatalasemia". Genetics Home Reference. US National Library of Medicine. Retrieved 7 November 2017.
- ^ 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): 610–619. doi:10.1172/JCI104075. PMC 293346. PMID 13836629.
- ^ a b Bissonnette, Bruno; Luginbuehl, Igor; Marciniak, Bruno; Dalens, Bernard J. (2006). "Acatalasia/Acatalasemia". Syndromes: Rapid Recognition and Perioperative Implications. McGraw-Hill. ISBN 0-07-135455-7.
- ^ a b "Acatalasemia". Genetics Home Reference. Retrieved 2015-09-28.
- ^ Online Mendelian Inheritance in Man (OMIM): ACATALASEMIA - 614097
- ^ 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.
- ^ Takahara, S. (1952). "Progressive oral gangrene probably due to lack of catalase in the blood (acatalasaemia); report of nine cases". Lancet. 2 (6745): 1101–4. doi:10.1016/s0140-6736(52)90939-2. PMID 12991731.