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acatalasemia (EN)

GC: n

S: JCI - https://www.jci.org/articles/view/104075/version/1/pdf/render(external link) (last access: 23 October 2017); OMIM - https://www.omim.org/entry/614097(external link) (last access: 23 October 2017).

N: 1. Comes from Latinized form of Greek katalysis "dissolution, a dissolving" (substances, military governments, etc.), from katalyein "to dissolve," and from kata "down".
2. acatalasia: First presented in part at the Japanese Genetic Society Meeting in October, 1958 by Takahara (Japanese otonaryngologist) and G. Miyamoto (Japanese orthopaedic surgeon).
3. acatalasia: Rare hereditary metabolic disorder caused by lack of the organic catalyst or enzyme called catalase.
4. Although it is not perceived at first sight, acatalasia affects the red blood cells, bone marrow, liver and skin.
5. Researchers estimate that the condition occurs in about 1 in 12,500 people in Japan, 1 in 20,000 people in Hungary, and 1 in 25,000 people in Switzerland.
6. Studies suggest that people with acatalasemia have an increased risk of developing type 2 diabetes mellitus, which is the most common form of diabetes. A higher percentage of people with this disease have type 2 diabetes mellitus than in the general population, and the disease tends to develop at an earlier age.
7. Half-normal levels of catalase in heterozygotes is referred to as hypocatalasemia or hypocatalasia.
S: 1. OED - http://www.etymonline.com/word/catalysis(external link) (last access: 20.10.2017). 2 to 4. EncBrit - https://www.britannica.com/science/acatalasia(external link) (last access: 20 October 2017). 5 to 6. GHR - https://ghr.nlm.nih.gov/condition/acatalasemia#(external link) (last access: 20 October 2017). 7. DISEARCH - http://www.diseaseinfosearch.org/Acatalasemia/93(external link) (last access: 20 October 2017).

SYN: acatalasia, catalase deficiency, Takahara's disease.

S: JCI - https://www.jci.org/articles/view/104075/version/1/pdf/render(external link) (last access: 20 October 2017)

CR: antibody, catalase (EN), disease, health, pathogen, pathogenic, therapy.


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