同型半胱氨酸尿症临床与实验室诊断

Clinical and Laboratory Diagnosis of Homocystinuria

摘要: 同型半胱氨酸尿症，常伴血浆同型半胱氨酸和蛋氨酸水平增高，是一种涉及胱硫醚β-合成酶活性改变的蛋氨酸代谢遗传性疾病。常导致心血管系统、中枢神经系统、肌肉和结缔组织等多系统功能障碍。此种代谢疾病的特点为血清同型半胱氨酸堆积和同型半胱氨酸在尿液中排出的增加。同型半胱氨酸的实验室分析复杂，综合分析对于确诊同型半胱氨酸尿症，及对疾病治疗疗效的监测有所裨益。

Abstract: Homocystinuria with increased plasma homocysteine and methionine level is an inherited disorder of the metabolism of methionine, often involves the change of cystathionine beta synthase activity. This disorder leads to a multi-systemic disease of the cardiovascular system, CNS, muscles, and connective tissue. Homocystinuria represents a group of hereditary metabolic disorders characterized by the accumulation of homocysteine in serum and elevated excretion of homocysteine in urine. Despite the lab analysis of homocysteine is complicated, it gives a clue to make a definite diagnosis of homocystinuria and esepcially helps to monitor therapy efficacy.