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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.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.
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.
Farlex Partner Medical Dictionary © Farlex 2012
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.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.
acatalasiaAn 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.
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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
Absence or deficiency of catalase from blood and tissues, often manifested by recurrent infection or ulceration of the gingivae (gums) and related oral structures.
Medical Dictionary for the Dental Professions © Farlex 2012