Acatalasemia

Orpha code: 926OMIM code: 614097

Definition

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.

Disease data
Classification

Disease

Synonyms
Catalase deficiency
Niedobór katalazy
ORPHA code
926
OMIM code
614097
ICD10 code
E80.3
ICD11 code
5C57.1

No additional description.

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