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Acatalasemia (medical condition): A rare inherited disorder involving a lack of erythrocyte catalase activity which affects lipid metabolism. The defect can manifest as one of two variants: Japanese variant (Takahara disease) or the Swiss variant which is asymptomatic.
See also:
Acatalasemia:
»Introduction: Acatalasemia
»Symptoms of Acatalasemia
»Treatments for Acatalasemia
Acatalasemia: A rare genetic deficiency where little or no catalase is produced.
Acatalasemia: [MIM*115500] SYN: acatalasia.
Source: Stedman's Medical Spellchecker, © 2006 Lippincott Williams & Wilkins. All rights reserved.
Acatalasemia: 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.
Source: Diseases Database
Acatalasemia is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Acatalasemia, or a subtype of Acatalasemia,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when if affects 1 person per 2,000.
They list Acatalasemia as a "rare disease".
Source - Orphanet
Acatalasemia (medical condition): See Acatalasemia (disease information).
»Introduction: Acatalasemia
»Symptoms of Acatalasemia
»Treatments for Acatalasemia
Source: Diseases Database
Source - NIH
Source: Diseases Database
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