HYPOCATALASEMIA: A NEW GENETIC CARRIER STATE*
Shigeo Takahara(Hiroshima Red Cross Hospital & Atomic-bomb Survivors Hospital), Howard B. Hamilton(Okayama University), James V. Neel(Hiroshima Red Cross Hospital & Atomic-bomb Survivors Hospital), Thomas Y. Kobara(Hiroshima Red Cross Hospital & Atomic-bomb Survivors Hospital), Yoshio Ogura(Hiroshima Red Cross Hospital & Atomic-bomb Survivors Hospital), Edwin T. Nishimura(University of Michigan–Ann Arbor)
Cited by 710Open Access
Abstract
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.
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