acatalasemia


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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.

a·cat·a·la·si·a

(ā-kat'ă-lā'zē-ă), [MIM*115500]
Absence or deficiency of catalase from blood and tissues, often manifested by recurrent infection or ulceration of the gingivae (gums) and related oral structures and caused by mutations in the catalase gene (CAT) on 11p. Homozygotes may have complete absence (Japanese variety) or very low levels (Swiss variety) of catalase; heterozygotes have reduced catalase levels (hypocatalasia), which overlap with the normal range.

acatalasemia

/acat·a·la·se·mia/ (a″kat-ah-la-se´me-ah) acatalasia.

acatalasemia

(ā-kăt′ə-lā-sē′mē-ə)
n.
Hereditary deficiency of catalase in the blood and tissues, often manifested by recurrent infection, ulceration, and gangrene of the gums and related oral structures. Also called acatalasia.

acatalasia

An autosomal dominant MIM 115500 condition of early onset first described in the Japanese, caused by a deficiency in tissue and RBC catalase, the enzyme that reduces H2O2; as H2O2 accumulates, malignant alveolar pyorrhea, and oral gangrene ensue, requiring removal of all teeth.
 
Molecular pathology
Acatalasia is caused by a mutation of CAT, located on chromosome 11p13, which encodes catalase, an anti-oxidant enzyme that converts hydrogen peroxide into water and oxygen.

a·cat·a·la·si·a

(ā-kat'ă-lā'zē-ă) [MIM*115500]
Absence or deficiency of catalase from blood and tissues, often manifested by recurrent infection or ulceration of the gingivae (gums) and related oral structures.
Synonym(s): acatalasemia.

acatalasemia (a´katələsē´mēə),

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).
References in periodicals archive ?
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).