Yuan L
Institute of Basic Medical Sciences, Beijing.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 1991 Apr;13(2):141-3.
A case of propionic acidemia is reported. The main features of this patient were recurrent vomiting, ketosis and occasional episodes of seizure. Serum concentrations of propionic acid and glycine were within the normal range. Blood ammonia was slightly elevated. Characteristic organic acids were present in the patient's urine. they were: 3-hydroxypropionic acid, propionylglycine, methyl-citric acid, tiglyglycine, 3-hydroxyvaleric acid, etc. The etiology, pathogenesis, clinical features, diagnosis, and treatment of propionic acidemia are briefly discussed.
报告了一例丙酸血症病例。该患者的主要特征为反复呕吐、酮症以及偶尔发作的癫痫。血清中丙酸和甘氨酸浓度在正常范围内。血氨略有升高。患者尿液中存在特征性有机酸，它们是：3-羟基丙酸、丙酰甘氨酸、甲基柠檬酸、惕各酰甘氨酸、3-羟基戊酸等。简要讨论了丙酸血症的病因、发病机制、临床特征、诊断和治疗。
