Shimizu H
Department of Pediatrics, Jikei University School of Medicine.
Nihon Rinsho. 1992 Jul;50(7):1555-60.
The ornithine transcarbamylase deficiency (OTCD), arginase deficiency (ARD), Hyperornithinemia-Hyperammonemia-Homocitrullinuria (H.H.H) syndrome and Lysinuric protein intolerance (LPI) are characterized by the accumulation of the precursors of urea, principally ammonia because of the abnormal metabolism of ornithine, arginine and lysine which are the dibasic amino acid. We mainly described the recent knowledge for these disease and introduced the great advancement of the molecular biology in this field which makes us to give an early diagnosis for these disease to have an early treatment.
鸟氨酸转氨甲酰酶缺乏症（OTCD）、精氨酸酶缺乏症（ARD）、高鸟氨酸血症-高氨血症-同型瓜氨酸尿症（H.H.H）综合征和赖氨酸尿性蛋白不耐受症（LPI）的特征是尿素前体的积累，主要是氨，这是由于鸟氨酸、精氨酸和赖氨酸（即二碱基氨基酸）的代谢异常所致。我们主要描述了这些疾病的最新知识，并介绍了该领域分子生物学的重大进展，这使我们能够对这些疾病进行早期诊断以便尽早治疗。
