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At a glance

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

Synonyms

Catalase Deficiency (CAT); Takahara Disease; Hypocatalasia/Hypocatalasemia (refers to heterozygotes who have approximately half-normal catalase levels).

History

First described in 1948 in Japan by S. Takahara and H. Miyamoto who found a heterogeneous group of genetic disorders where the application of hydrogen peroxide to ulcerated areas of progressive oral gangrene did not bubble in the usual manner and blood immediately turned into a dark brownish color.

Incidence

The frequency of the gene mutation is relatively high in Japan and quite variable in the rest of the world. The frequency of heterozygotes in Hiroshima and Nagasaki is 0.09% but is around 1.4% in other parts of Japan. Acatalasia has also been detected in Switzerland, Israel, and Hungary (incidence 5 in 106). Swiss and Israeli homozygotes show some residual catalase activity, suggesting that the mutation might be different from that responsible for the Japanese variant in which catalase activity in homozygotes is zero.

Genetic inheritance

An autosomal recessive disorder resulting from the virtual absence of catalase activity. However, an autosomal dominant form with polymorphism has also been suggested. The defect is caused by a homozygous CAT (catalase) gene mutation on chromosome 11p13.

Pathophysiology

Catalase is an extremely efficient enzyme located in red blood cells, mucosa, skin, muscles, bone marrow, appendix, and liver tissue. It transforms hydrogen peroxide into water and gaseous oxygen. This process protects tissues from reactive oxygen species, such as peroxide generated by bacteria (eg, streptococci, pneumococci, oral flora). The absence or marked deficiency of catalase results in affected individuals being unable to degrade exogenous or endogenous hydrogen peroxide. The accumulation of these metabolites in periodontal tissues leads to gingival hypoxemia with ulcerations and necrosis of soft and hard tissues. The Japanese variant (Takahara disease) is the symptomatic form, with the pathology confined to the oral cavity.

Diagnosis

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 (seen as bubbling). Catalase enzyme assays show low levels.

Clinical aspects

Children tend to be asymptomatic until eruption of the deciduous teeth, when deep necrotic periodontal or tonsillar ulcerations with surrounding inflammation, dental caries, halitosis, loose teeth, and alveolar bone resorption begin to occur. Patients are rarely affected after puberty. The management consists of 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. However, a fair number of patients, despite having very low catalase activity, may show ...

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