Rupar C A, Gillett J, Gordon B A, Ramsay D A, Johnson J L, Garrett R M, Rajagopalan K V, Jung J H, Bacheyie G S, Sellers A R
CPRI, University of Western Ontario, London, Canada.
Neuropediatrics. 1996 Dec;27(6):299-304. doi: 10.1055/s-2007-973798.
Isolated sulfite oxidase (SO) deficiency is an autosomal recessively inherited inborn error of sulfur metabolism. In this report of a ninth patient the clinical history, laboratory results, neuropathological findings and a mutation in the sulfite oxidase gene are described. The data from this patient and previously published patients with isolated sulfite oxidase deficiency and molybdenum cofactor deficiency are summarized to characterize this rare disorder. The patient presented neonatally with intractable seizures and did not progress developmentally beyond the neonatal stage. Dislocated lenses were apparent at 2 months. There was increased urine excretion of sulfite and S-sulfocysteine and a decreased concentration of plasma cystine. A lactic acidemia was present for 6 months. Liver sulfite oxidase activity was not detectable but xanthine dehydrogenase activity was normal. The boy died of respiratory failure at 32 months. Neuropathological findings of cortical necrosis and extensive cavitating leukoencephalopathy were reminiscent of those seen in severe perinatal asphyxia suggesting an etiology of energy deficiency. A point mutation that resulted in a truncated protein missing the molybdenum-binding site has been identified.
孤立性亚硫酸盐氧化酶（SO）缺乏症是一种常染色体隐性遗传的硫代谢先天性缺陷。在本报告中，描述了第9例患者的临床病史、实验室检查结果、神经病理学发现以及亚硫酸盐氧化酶基因中的一种突变。总结了该患者以及先前发表的孤立性亚硫酸盐氧化酶缺乏症和钼辅因子缺乏症患者的数据，以表征这种罕见疾病。该患者出生时即出现难治性癫痫，发育未超过新生儿期。2个月时可见晶状体脱位。尿中亚硫酸盐和S-磺基半胱氨酸排泄增加，血浆胱氨酸浓度降低。乳酸血症持续6个月。肝脏亚硫酸盐氧化酶活性检测不到，但黄嘌呤脱氢酶活性正常。该男孩32个月时死于呼吸衰竭。皮质坏死和广泛的空洞性白质脑病的神经病理学发现让人联想到严重围产期窒息所见，提示能量缺乏的病因。已鉴定出一个导致缺失钼结合位点的截短蛋白的点突变。
