Johnson J L, Rajagopalan K V
Department of Biochemistry, Duke University Medical Center, Durham, North Carolina 27710, USA.
J Inherit Metab Dis. 1995;18(1):40-7. doi: 10.1007/BF00711371.
Sulphite oxidase deficiency occurs in man in two forms, as the isolated deficiency and as a syndrome of combined molybdoenzyme deficiency. This latter pleiotropic condition has as its underlying cause a defect in the synthesis of the molybdenum cofactor required for the activity of all molybdoenzymes in humans. Difficulties in diagnosis of sulphite oxidase deficiency are often encountered. A new method for detection of a key diagnostic metabolite, S-sulphocysteine, is outlined. The procedure is based on precolumn derivatization of urinary amino acids with dimethylaminoazobenzene sulphonyl chloride (Dabsyl-Cl) and resolution of the modified S-sulphocysteine by reversed-phase HPLC. A number of affected patients and control individuals with similar clinical symptoms have been studied, and a clear demarcation between the two groups has been noted.
亚硫酸盐氧化酶缺乏症在人类中有两种形式，即孤立性缺乏和钼酶联合缺乏综合征。后一种多效性疾病的根本原因是人类所有钼酶活性所需的钼辅因子合成存在缺陷。亚硫酸盐氧化酶缺乏症的诊断常常遇到困难。本文概述了一种检测关键诊断代谢物S-磺基半胱氨酸的新方法。该方法基于用二甲基氨基偶氮苯磺酰氯（Dabsyl-Cl）对尿氨基酸进行柱前衍生化，并通过反相高效液相色谱法分离修饰后的S-磺基半胱氨酸。研究了许多有类似临床症状的患病患者和对照个体，两组之间有明显的区分。
