【摘要】 患者为12岁女孩,智力中等落后,肢体细长,骨质疏松,近视及二尖瓣脱垂。尿银硝普盐试验阳性,尿高压电泳可见同型胱氨酸区带,血浆同型胱氨酸浓度1.5mg％,甲硫氨酸及胱氨酸浓废正常。文中对同型胱氨酸尿症的病因、生化异常、临床表现、诊断及治疗进行了讨论。更多还原

【Abstract】 A case of homocystinuria was reported. The patient was a 12-year-oldgi rl, suffering from moderate mental retardation. Other manifestations include long and thin extremeties, osteoporosis, myopia and prolapse of mitral valve. Urine silver nitroprusside test was positive, urine homocystinc was detected by high voltage electrophoresis. Plasma homocystine was 1.5mg% and plasma methionine and cystine were in the normal range. The etiology, biochemical abnormalities, clinical features, diagnosis and treatment of homocystinuria were discussed.更多还原