Monreal M, Callejas J M, Martorell A, Silveira P, Gallego M, Lafoz E, Casals A
Internal Medicine Service, Hospital Universitario de Badalona Germans Trias i Pujol, Barcelona, Spain.
J Cardiovasc Surg (Torino). 1991 Jan-Feb;32(1):137-8.
Homocystinuria was first described in 1962. The disease affects several systems including the eyes, skeletal and nervous and vascular systems. We present the case of a 28-year old woman who presented with a severe occlusive arteriopathy. Screening for the most usual causes of arterial disease in young patients was negative, but a study of aminoaciduria and column chromatography confirmed the diagnosis of B6-responsive homocystinuria. Although it was necessary to amputate her left leg, the patient remains asymptomatic 16 months after B6 therapy was started.
同型胱氨酸尿症于1962年首次被描述。该疾病影响多个系统，包括眼睛、骨骼、神经和血管系统。我们报告一例28岁女性患者，她患有严重的闭塞性动脉病。对年轻患者动脉疾病最常见病因的筛查结果为阴性，但氨基酸尿症研究和柱色谱法确诊为维生素B6反应性同型胱氨酸尿症。尽管不得不截肢患者的左腿，但在开始维生素B6治疗16个月后，患者仍无症状。
