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acatalasemia

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acatalasemia /acat·a·la·se·mia/ (a″kat-ah-la-se´me-ah) acatalasia.
a·cat·a·la·se·mi·a (-kt-l-sm-)
n.
Hereditary deficiency of catalase in the blood, often manifested by recurrent infection or ulceration of the gums and related oral structures. Also called acatalasia, Takahara's disease.

acatalasia [a″kat-ah-la´zhah]
a rare hereditary disease seen mostly in Japan and Switzerland, marked by congenital absence of catalase; it may be asymptomatic but is usually associated with recurrent infections of oral structures. A variety in Japan is characterized by oral ulcerations and gangrene and is known as takahara's disease.

acatalasemia (a´katlsē´mē),
n a congenital lack of the enzyme catalase in blood and other tissues that leads to a progressive necrosis of the oral tissues (Takahara's disease).


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A new type of inherited catalase deficiencies: its characterization and comparison to the Japanese and Swiss type of acatalasemia.
Hypocatalasemia is the heterozygous state of the acatalasemia gene and is inherited as an autosomal, recessive trait without any characteristic clinical sign.
In acatalasemia, a genetic deficiency of erythrocyte catalase inherited as an autosomal recessive trait, and in hypocatalasemia, heterozygosity of the acatalasemia gene, the defense system against hydrogen peroxide is diminished; however, no biochemical changes have been reported for this syndrome (6, 7).
 
 
 
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