Disease or Syndrome
acatalasia
Subclass of:
Peroxisomal Disorders
Definitions related to acatalasia:
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A rare autosomal recessive disorder resulting from the absence of CATALASE activity. Though usually asymptomatic, a syndrome of oral ulcerations and gangrene may be present.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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(acatalasemia) A rare autosomal recessive disorder characterized by deficiency of catalase in the peripheral blood. It is usually manifested with periodontal infections.NCI ThesaurusU.S. National Cancer Institute, 2021
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A rare congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide.National Center for Advancing Translational Sciences
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Acatalasia, rare hereditary metabolic disorder caused by lack of the organic catalyst or enzyme called catalase. Although a deficiency of catalase activity is noted in many tissues of the body, including the red blood cells, bone marrow, liver, and skin, only about half of the affected persons...Encyclopedia Britannica, Inc., 2020
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