Acatalasia/Acatalasemia

Inherited disorder with marked catalase deficiency resulting in enoral inflammation and teeth destruction.

Catalase Deficiency (CAT); Takahara Disease; Hypocatalasia.

Heterogeneous group of genetic disorders first discovered in 1948 by Takahara in Japan, an otolaryngologist who found that in cases of progressive oral gangrene, hydrogen peroxide applied to the ulcerated areas did not froth in the usual manner.

The frequency of the gene is relatively high in Japan and is variable in the rest of the world. The frequency of heterozygotes is 0.09% in Hiroshima and Nagasaki but is on the order of 1.4% in other parts of Japan. Acatalasia also has been detected in Switzerland and Israel. Swiss and Israeli homozygotes show some residual catalase activity, suggesting the mutation is different from that responsible for the Japanese disease in which catalase activity is zero and no cross-reacting material has been identified.

Believed to be an autosomal recessive disorder resulting from the virtual absence of catalase activity observed mainly in Japan and Switzerland. However, an autosomal dominant with polymorphism has been suggested. Gene map locus is 11p13 deletion.

Marked deficiency of catalase, which usually is present in red blood cells and other tissues. Catalase decomposes hydrogen peroxide and generates oxygen, protects tissues from oxidizing agents such as peroxide generated by bacteria (e.g., streptococci, pneumococci). Affected persons are unable to degrade exogenous or endogenous hydrogen peroxide, which accumulates in the periodontal tissues and leads to gingival hypoxemia with resultant ulceration and necrosis of soft and hard tissues. The Japanese variant (Takahara disease) is the symptomatic form, with the pathology confined to the oral cavity.

Should be considered in the differential diagnosis of children with oral ulcerations. The patient's blood turns brown upon contact with hydrogen peroxide and lacks the generation of oxygen (bubbling). Catalase activity assays show low levels.

Children tend to be normal until eruption of the deciduous teeth, when deep necrotic periodontal or tonsillar ulcers with surrounding inflammation, dental caries, halitosis, loose teeth, and alveolar bone resorption begin to occur. Patients are rarely affected after puberty. Managed with surgical debridement, extraction of affected teeth, tonsillectomy, antibiotics, and meticulous oral hygiene. Except for potential loss of all teeth and parts of the alveolar bone, the overall prognosis in properly managed cases is good.

Note the presence and location of any loose teeth and intraoral ulcerations.

Perform direct laryngoscopy carefully to prevent accidental dislodgment of loose teeth and trauma to periodontal or tonsillar ulcers. The latter may bleed easily and obstruct the view for endotracheal intubation. A cuffed endotracheal tube and/or throat pack are recommended to prevent irrigation fluid used during debridement from entering the airway. An awake extubation should minimize the risk of postextubation laryngospasm that may result from residual blood or secretions in a partially anesthetized patient.

Avoid topical hydrogen peroxide, which is highly toxic to these patients.