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

(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.
References in periodicals archive ?
Erythrocyte metabolism against oxidation in Japanese acatalasemia. Hum Genet 1978;10:206-11.
Molecular analysis of human acatalasemia: identification of a splicing mutation.
A novel human catalase mutation (358Tdel) causing Japanese type acatalasemia. Blood Cell Mol Dis 1995;21:232-3.
The frequencies for acatalasemia and hypocatalasemia in Hungary are 0.05 in 1000 and 1.8 in 1000.
We describe here the first comprehensive study of the biochemical markers of lipid and carbohydrate metabolism in acatalasemia and hypocatalasemia.
Acatalasemia. In: Scriver CR, Baudet AL, Sly WS, Valle D, eds.