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A rare inborn error of metabolism characterized by a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide. The disorder is usually asymptomatic but may be associated with oral ulcerations and gangrene, or diabetes mellitus and atherosclerosis in certain populations.
ORPHA:926Classification level: Disorder
A summary on this disease is available in Español (2021) Français (2021) Nederlands (2021) Português (2021) Deutsch (2006) Italiano (2006)
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