acatalasia

Absence or deficiency of catalase from blood and tissues, often manifested by recurrent infection or ulceration of the gums and related oral structures and caused by mutations in the catalase gene (CAT) on 11p. Homozygotes may have complete absence (Japanese variety) or very low levels (Swiss variety) of catalase; heterozygotes have reduced catalase levels (hypocatalasia), which overlap with the normal range. SYN: acatalasemia, Takahara disease.

* * *

n.

an inborn lack of the enzyme catalase, leading to recurrent infections of the gums (gingivitis) and mouth. It is most common in the Japanese.

* * *

acat·a·la·sia (a″kat-ə-laґzhə) a rare autosomal recessive disorder (gene locus: 11p13) due to virtual absence of catalase activity, observed mainly in Japan and Switzerland. It is usually asymptomatic, but in approximately 50 per cent of the Japanese cases it is characterized by a syndrome of oral ulcerations and gangrene and is called also Takahara disease. See also hypocatalasia.