A REVIEW OF THE CLINICAL PRESENTATION AND LABORATORY FINDINGS IN 2 UNCOMMON HEREDITARY DISORDERS OF SULFUR AMINO-ACID METABOLISM, BETA-MERCAPTOLACTATE CYSTEINE DISULFIDEURIA AND SULFITE OXIDASE DEFICIENCY
A REVIEW OF THE CLINICAL PRESENTATION AND LABORATORY FINDINGS IN 2 UNCOMMON HEREDITARY DISORDERS OF SULFUR AMINO-ACID METABOLISM, BETA-MERCAPTOLACTATE CYSTEINE DISULFIDEURIA AND SULFITE OXIDASE DEFICIENCY
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DOI：
10.1016/s0009-9120(85)80097-7
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发表时间：
1985-01-01
影响因子：
2.8
通讯作者：
CRAWHALL, JC
中科院分区：
文献类型：
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作者：
CRAWHALL, JC
20年前，两种含硫氨基酸代谢的遗传性疾病，β-巯基乳酸-半胱氨酸二硫化物尿症和亚硫酸氧化酶缺乏症被描述。从那时起，这些疾病的其他例子在世界文献中仅限于每种疾病约5例。这些条件的明显罕见的原因进行了讨论，并确定他们的分析方法review.The检测的第一个取决于氰化物-硝普钠试验的阳性结果，然后由特定的混合二硫化物的阳性鉴定。巯基丙酮酸硫转移酶已被证明是缺乏的。在亚硫酸氧化酶缺乏症的第二种疾病中，婴儿进行性肌张力障碍和晶状体脱位的临床表现应建议对这种疾病进行进一步的实验室检查，这是常规实验室筛查程序无法检测到的。实验室诊断可以通过使用新鲜尿液样本的Merckoquant亚硫酸盐试验获得。也可以进行定量硫代硫酸盐和牛磺酸测量。还应对特定氨基酸S-磺基-L-半胱氨酸进行阳性鉴别。亚硫酸盐氧化酶在肝、肾和脑等器官中缺失。后一种情况也可能与黄嘌呤尿症有关，对于这种亚硫酸盐氧化酶和黄嘌呤氧化酶的联合疾病，已证实缺乏含腺嘌呤的辅因子。
Two hereditary disorders of sulfur amino acid metabolism, β-mercaptolactate-cysteinedisulfideuria and sulfite oxidase deficiency, were described twenty years ago. Other examples of these disorders have been limited to about 5 of each in the world literature since then. Reasons for the apparent rarity of these conditions are discussed and the analytical procedures to identify them are reviewed.The detection of the first depends on the positive result of a cyanide-nitroprusside test followed by positive identification of the specific mixed disulfide. The enzyme mercaptopyruvate sulfur transferase has been shown to be deficient. In the second disorder of sulfite oxidase deficiency, the clinical presentation with progressive dystonia and dislocated lenses in an infant should suggest further laboratory investigations for this disorder which would not be detected by conventional laboratory screening procedures. Laboratory diagnosis can be obtained by use of the Merckoquant sulfite test on a fresh urine sample. Quantitative thiosulfate and taurine measurements can also be made. Positive identification of the specific amino acid S-sulfo-l-cysteine should also be made. The enzyme sulfite oxidase is missing from such organs as liver, kidney and brain. This latter condition may also be associated with xanthinuria.For this combined disorder of sulfite oxidase and xanthine oxidase, a deficiency of a molybdenum-containing cofactor has been demonstrated.