Bamforth F J, Johnson J L, Davidson A G, Wong L T, Lockitch G, Applegarth D A
Biochemical Diseases Laboratory, B.C.'s Children's Hospital, Vancouver, Canada.
Clin Biochem. 1990 Dec;23(6):537-42. doi: 10.1016/0009-9120(90)80046-l.
A girl aged eight months, who presented with developmental delay and dislocated optic lenses, was diagnosed as having combined sulfite oxidase and xanthine dehydrogenase deficiencies consistent with molybdenum cofactor deficiency. The diagnosis was confirmed by demonstrating the absence in urine of urothione, a molybdenum cofactor metabolite. Prenatal diagnosis excluded the disease in the mother's second pregnancy. A summary of an in vitro study of molybdenum cofactor synthesis in the patient is given.
一名八个月大的女童，出现发育迟缓且晶状体脱位，被诊断为同时患有亚硫酸盐氧化酶和黄嘌呤脱氢酶缺乏症，符合钼辅因子缺乏症。通过证明尿液中不存在钼辅因子代谢产物硫代硫酸盐，确诊了该诊断。产前诊断排除了母亲第二次怀孕时胎儿患该病的可能性。本文给出了对该患者钼辅因子合成的体外研究总结。
