[MIM 614 097]

(acatalasia)

Unknown prevalence: extremely rare. Autosomal recessive transmission of a mutation of the CAT gene (11p13) that results in the absence or loss of activity of catalase. Catalase metabolizes the H2O2 free radical (hydrogen peroxide).  Acatalasemia is usually asymptomatic  but may be associated with:

- buccal ulcerations or even gangrene (Takahara syndrome)

- diabetes mellitus

- atheromatosis

Anesthetic implications: 

none; hydrogen peroxide used to clean a wound does not lather as usual

References : 

Updated December 2017