Endres W, Shin Y S, Günther R, Ibel H, Duran M, Wadman S K
Universitäts-Kinderklinik, München, Federal Republic of Germany.
Eur J Pediatr. 1988 Dec;148(3):246-9. doi: 10.1007/BF00441412.
A newborn infant exhibiting seizures and spastic tetraparesis at the age of 1 week was shown to excrete excessive quantities of sulphite, taurine, S-sulphocysteine and thiosulphate, characteristic of sulphite oxidase deficiency. In addition, increased renal excretion of xanthine and hypoxanthine combined with a low serum and urinary uric acid was consistent with xanthine dehydrogenase deficiency. Both deficiencies could be established at the enzyme level. The primary defect giving rise to the combined abnormalities is the absence of a molybdenum cofactor, a molybdenum-containing pterin being an essential component of both enzymes. The patient developed a severe neurological syndrome, brain atrophy and lens dislocation and died at the age of 22 months. Attempts at treatment, such as oral administration of ammonium molybdate, sodium sulphate, D-penicillamine, 2-mercaptoethane sulphonic acid, pyridoxine and thiamine did not influence the clinical course.
一名1周大时出现癫痫发作和痉挛性四肢瘫痪的新生儿，被发现排泄过量的亚硫酸盐、牛磺酸、S-磺基半胱氨酸和硫代硫酸盐，这是亚硫酸盐氧化酶缺乏的特征。此外，黄嘌呤和次黄嘌呤的肾脏排泄增加，同时血清和尿液尿酸水平降低，这与黄嘌呤脱氢酶缺乏一致。两种缺乏都可以在酶水平上得到证实。导致这些综合异常的主要缺陷是缺乏钼辅因子，含钼蝶呤是这两种酶的重要组成部分。该患者发展为严重的神经综合征、脑萎缩和晶状体脱位，并于22个月大时死亡。口服钼酸铵、硫酸钠、D-青霉胺、2-巯基乙烷磺酸、吡哆醇和硫胺素等治疗尝试并未影响临床病程。
