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.

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 , 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.^{[citation needed]}

Management[]

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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[]

External links[]