(also called acatalasemia
, or Takahara's disease
) is an autosomal recessive peroxisomal disorder
caused by low levels of the enzyme catalase
The disorder is relatively benign, although it causes an increased incidence of periodontal
infections, and can under rare circumstances lead to gangrene
Occurrence of acatalasia is often the result of mutation in the CAT gene which codes for the enzyme catalase
Researchers estimate that the condition occurs in every 12,500th person in Japan, every 20,000th in Hungary, and every 20,000th person in Switzerland.
In 1948, Dr. Shigeo Takahara
(1908–1994), a Japanese otolaryngologist
first reported this new disease.Takahara, S.; Miyamoto, H. Three cases of progressive oral gangrene due to lack of catalase in the blood. Nippon Jibi-Inkoka Gakkai Kaiho 51: 163 only, 1948. He had examined a patient with an oral ulcer
. He had spread hydrogen peroxide
on the diseased part, but oxygen
was not generated due to the lack of catalase.