Hypocatalasemia: a new genetic carrier state.

Acatalasemia, a rare congenital abnormality characterized by an apparent lack of the enzyme catalase, was first discovered by Takahara and Miyamoto in 1947 (1, 2). The lack of catalase activity in this disease was initially noted in whole blood, but subsequent studies of the tissues of other organs such as the nasal and oral cavities, the pharynx, bone marrow and liver have revealed a similar absence of activity for this enzyme (3-5). Since the initial description of this disease, 38 cases in 17 families have been found and reported in Japan up to April 1959 (6-17); at this writing no reports of acatalasemia have appeared from any other countries of the world. Shortly after the discovery of acatalasemia it became apparent that the condition probably resulted from homozygosity for a recessive gene (18). Because of the widespread interest in the biochemical identification of genetic carrier states, we undertook a study of persons presumed to be