Roesel R A, Bowyer F, Blankenship P R, Hommes F A
J Inherit Metab Dis. 1986;9(4):343-7. doi: 10.1007/BF01800483.
Increased urinary excretion of xanthine, hypoxanthine, sulphite, thiosulphate and decreased serum uric acid were observed in an infant with profound failure to thrive. Other clinical findings included refractory seizures, spastic quadriplegia and profound psychomotor retardation. The patient died at 20 months of age. There were no detectable activities for xanthine oxidase and sulphite oxidase in the postmortem liver. Urothione, which is the metabolic excretory product of the molybdenum cofactor for molybdoenzymes was not present in the urine. A deficiency of the molybdenum cofactor which is common to both xanthine and sulphite oxidase is presumed to be the metabolic defect responsible for the absent activities of both enzymes.
在一名严重发育不良的婴儿中，观察到黄嘌呤、次黄嘌呤、亚硫酸盐、硫代硫酸盐的尿排泄增加，血清尿酸降低。其他临床发现包括难治性癫痫、痉挛性四肢瘫痪和严重的精神运动发育迟缓。该患者于20个月龄时死亡。尸检肝脏中未检测到黄嘌呤氧化酶和亚硫酸盐氧化酶的活性。尿中不存在尿硫酮，它是钼酶的钼辅因子的代谢排泄产物。推测黄嘌呤氧化酶和亚硫酸盐氧化酶共有的钼辅因子缺乏是导致这两种酶活性缺失的代谢缺陷。
