MD  >> Vol. 5 No. 3 (September 2015)

    Clinical and Laboratory Diagnosis of Homocystinuria

  • 全文下载: PDF(419KB) HTML   XML   PP.54-60   DOI: 10.12677/MD.2015.53011  
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罗淦:江西中医药大学护理学院,江西 南昌;

同型半胱氨酸尿症胱硫醚β-合成酶同型半胱氨酸蛋氨酸实验室诊断Homocystinuria CBS Homocysteine Methionine Lab Diagnosis



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.

罗淦, 骆云鹏. 同型半胱氨酸尿症临床与实验室诊断[J]. 医学诊断, 2015, 5(3): 54-60.


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