Acatalasia

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Retrieved

2021-01-18

Source

Wikipedia

Trials

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Genes

CAT, HP, TALDO1

Drugs

Allogeneic multi-virus specific T lymphocytes targeting BK virus, cytomegalovirus, human herpesvirus-6, Epstein Barr virus and adenovirus, haematopoietic stem cells and blood progenitors umbilical cord-derived expanded with (1R, 4R)-N1-(2-benzyl-7-(2-methyl-2H-tetrazol-5-yl)-9H-pyrimido[4,5-b]indol-4-yl)cyclohexane-1,4-diamine dihydrobromide dihydrate

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Acatalasia is an autosomal recessive peroxisomal disorder caused by absent or very low levels of the enzyme catalase. 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. Symptoms primary affect children.

Genetic

Acatalasia is often the result of mutations in both copies of the CAT gene which codes for the enzyme catalase. 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.

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

Management

Epidemiology

In parts of Japan, this condition has been found in approximately 1.4% of people. Researchers estimate that the condition occurs in 1 in 20,000 people in Hungary and Switzerland.

History

In 1948, Dr. Shigeo Takahara (1908–1994), a Japanese otolaryngologist first reported this new disease. 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.