Sartorio R, Carrozzo R, Corbo L, Andria G
J Inherit Metab Dis. 1986;9(1):25-9. doi: 10.1007/BF01813897.
We measured protein-bound plasma homocyst(e)ine in 15 normal adult subjects and nine heterozygotes for homocystinuria due to cystathionine beta-synthase deficiency. The mean (+/- SD) concentrations obtained in the two groups of subjects were 4.35 +/- 1.50 and 9.16 +/- 3.40 mumoll-1, respectively. The mean values were significantly different, although the levels of three heterozygotes overlapped those of the control range. This method allows preliminary screening of the heterozygotes for homocystinuria and can be carried out by laboratories that have only facilities for amino acid analysis.
我们检测了15名正常成年受试者以及9名因胱硫醚β-合酶缺乏导致同型胱氨酸尿症的杂合子的血浆蛋白结合同型半胱氨酸水平。两组受试者的平均（±标准差）浓度分别为4.35±1.50和9.16±3.40μmol/L。尽管有三名杂合子的水平与对照组范围重叠，但平均值仍有显著差异。该方法可对同型胱氨酸尿症杂合子进行初步筛查，并且仅具备氨基酸分析设施的实验室即可开展。
