Roth A, Nogues C, Monnet J P, Ogier H, Saudubray J M
Virchows Arch A Pathol Anat Histopathol. 1985;405(3):379-86. doi: 10.1007/BF00710072.
A case of combined deficiency of sulphite-oxidase and xanthine-oxidase with a defect of the molybdenum cofactor, which is vital to the activity of sulphite-, xanthine- and aldehyde-oxidase, is reported here. Seven cases of combined deficiencies have been described with regard to both clinical and laboratory findings. The clinical, laboratory and anatomo-pathological features and, in particular, the central nervous system lesions of the present case correspond exactly to those in the case described Rosenblum in which an isolated deficiency in sulphite-oxidase was present. As the cerebral alterations in the present case are comparable to those described in Rosenblum's case, they probably result from the defect in sulphite-oxidase activity.
本文报道了一例亚硫酸盐氧化酶和黄嘌呤氧化酶联合缺乏且钼辅因子存在缺陷的病例，钼辅因子对亚硫酸盐、黄嘌呤和醛氧化酶的活性至关重要。已从临床和实验室检查结果方面描述了7例联合缺乏病例。本病例的临床、实验室及解剖病理学特征，尤其是中枢神经系统病变，与Rosenblum所描述的病例完全相符，后者存在孤立的亚硫酸盐氧化酶缺乏。由于本病例中的脑部改变与Rosenblum病例中所描述的相似，它们可能是由亚硫酸盐氧化酶活性缺陷导致的。
