高鸟氨酸血症、高氨血症和同型瓜氨酸尿症：病例报告及生化研究
Hyperornithinemia, hyperammonemia, and homocitrullinuria: case report and biochemical study.
作者信息
Koike R, Fujimori K, Yuasa T, Miyatake T, Inoue I, Saheki T
机构信息
Department of Neurology, Niigata University, Japan.
出版信息
Neurology. 1987 Nov;37(11):1813-5. doi: 10.1212/wnl.37.11.1813.
Two siblings with hyperornithinemia, hyperammonemia, and homocitrullinuria are reported. The clinical picture included protein intolerance, mental retardation, seizures, and stuporous episodes. One patient had cerebellar ataxia, myoclonus, convulsive seizure, and muscular weakness in both legs. Isolated liver mitochondria in the patient revealed that ornithine transport and citrulline synthesis were decreased, but urea cycle enzymes and ornithine aminotransferase were normal. Ornithine metabolism was decreased in cultured skin fibroblasts.
报告了两名患有高鸟氨酸血症、高氨血症和同型瓜氨酸尿症的兄弟姐妹。临床表现包括蛋白质不耐受、智力发育迟缓、癫痫发作和昏迷发作。一名患者出现小脑共济失调、肌阵挛、惊厥发作和双腿肌肉无力。该患者的分离肝线粒体显示鸟氨酸转运和瓜氨酸合成减少，但尿素循环酶和鸟氨酸转氨酶正常。培养的皮肤成纤维细胞中鸟氨酸代谢降低。
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