van der Heiden C, Beemer F A, Brink W, Wadman S K, Duran M
Clin Biochem. 1979 Dec;12(6):206-8. doi: 10.1016/s0009-9120(79)80097-1.
In a 3-week old female child with clinical features including neurologic abnormalities and lens dislocation, xanthinuria co-existed with increased excretion of sulfur compounds (sulfite, S-sulfocysteine, taurine and thio-sulfate). Low xanthine oxidase and absent sulfite oxidase activities were found on liver biopsy. No abnormality was detected in either parent. Both the above enzymes are molybdenum-flavoproteins. Normal serum molybdenum concentration seemed to rule out dietary deficiency or impaired absorption. A defect in the incorporation of the metal into flavoproteins is postulated in this case.
在一名3周大、具有包括神经学异常和晶状体脱位等临床特征的女童中，黄嘌呤尿症与硫化合物（亚硫酸盐、S-磺基半胱氨酸、牛磺酸和硫代硫酸盐）排泄增加同时存在。肝脏活检发现黄嘌呤氧化酶活性降低且亚硫酸盐氧化酶活性缺失。在其父母中均未检测到异常。上述两种酶均为钼黄素蛋白。正常的血清钼浓度似乎排除了饮食缺乏或吸收受损的情况。推测该病例中存在金属掺入黄素蛋白的缺陷。
