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Medical condition From Wikipedia, the free encyclopedia
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 names | Acatalasemia, or Takahara's disease[1]: 809 |
| |
| Basic structure of a peroxisome | |
| Specialty | Endocrinology  |
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]
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]
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]
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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]
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]
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