Endres W
Fortschr Med. 1982 Mar 18;100(11):460-4.
Isolation and identification of cystathionine were the basis for the determination of the renal cystathionine excretion in healthy children. Pathologically increased urinary levels of cystathionine may reflect either an inherited enzyme defect, or transient impaired adaptation in premature infants, or a secondary phenomenon in neuroblastoma and certain liver disorders. Pyridoxine dependency was shown in a child with primary cystathioninuria. Urinary cystathionine concentration in premature newborns decreased when treated with pyridoxine. Secondary cystathioninuria was found in biliary atresia, cytomegalovirus infection, neuroblastoma, vitamin D intoxication and hyperglycinemia.
胱硫醚的分离与鉴定是测定健康儿童肾脏胱硫醚排泄量的基础。病理情况下，尿液中胱硫醚水平升高可能反映遗传性酶缺陷、早产儿短暂的适应性受损、神经母细胞瘤及某些肝脏疾病中的继发现象。一名原发性胱硫醚尿症患儿表现出对吡哆醇的依赖性。用吡哆醇治疗后，早产新生儿尿液中的胱硫醚浓度降低。在胆道闭锁、巨细胞病毒感染、神经母细胞瘤、维生素D中毒及高甘氨酸血症中发现了继发性胱硫醚尿症。
