Department of Otolaryngology-Head and Neck Surgery, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan.
Hayashima Clinic, Dermatology & Otolaryngology, Hayashima, Tsukubo-gun, Okayama, Japan.
Proc Jpn Acad Ser B Phys Biol Sci. 2024;100(7):353-367. doi: 10.2183/pjab.100.024.
Catalase, a heme-containing antioxidant enzyme, was once considered essential for human survival. It is widely distributed in the human body and is particularly abundant in red blood cells. The term "acatalasemia" first appeared in the Proceedings of the Japan Academy in 1951, drawing global attention to families genetically deficient in catalase. This deficiency not only altered the significance of catalase but also played a pioneering role in human genetics during an era of limited genetic methodology. In this article, we examine the discovery of acatalasemia by an otolaryngologist during surgery on an 11-year-old girl. This remarkable journey led to epoch-making research spanning biochemistry, hematology, and human genetics.
过氧化氢酶，一种含血红素的抗氧化酶，曾被认为对人类生存至关重要。它广泛分布于人体，尤其在红细胞中含量丰富。“无过氧化氢酶血症”一词于 1951 年出现在《日本科学院院报》上，引起了全球对遗传性过氧化氢酶缺乏症家族的关注。这种缺乏不仅改变了过氧化氢酶的意义，而且在遗传方法有限的时代，为人类遗传学开创了先河。本文通过耳鼻喉科医生对一名 11 岁女孩手术的案例，探讨了无过氧化氢酶血症的发现过程。这一非凡的历程引领了跨越生物化学、血液学和人类遗传学的划时代研究。
