Acatalasia

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.

Acatalasia
Other namesAcatalasemia, or Takahara's disease[1]:809
Basic structure of a peroxisome
SpecialtyEndocrinology 

Presentation

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]

Genetic

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

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.

Epidemiology

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

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.

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 978-0-7216-2921-6.
  2. Reference, Genetics Home. "acatalasemia". Genetics Home Reference. Retrieved 7 November 2017.
  3. 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.
  4. Bissonnette, Bruno; Luginbuehl, Igor; Marciniak, Bruno; Dalens, Bernard J. (2006). Acatalasia/Acatalasemia. Syndromes: Rapid Recognition and Perioperative Implications. The McGraw-Hill Companies.
  5. "Acatalasemia". Genetics Home Reference. Retrieved 2015-09-28.
  6. "OMIM Entry - # 614097 - ACATALASEMIA". www.omim.org.
  7. 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.
Classification
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