Acatalasemia

Orpha code: 926OMIM code: 614097

Definicja

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
Klasyfikacja

Disease

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

No additional description.

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