HUMAN BIOCHEMICAL GENETICS

1.该科的成员继续照顾80名胱氨酸病患者 被提供半胱胺或磷酸半胱胺治疗的患者。在预- 移植患者，这维持了肾功能， 生长，并影响实质器官胱氨酸耗竭。早期治疗 与半胱胺允许肾功能的增长，在前3年 这意味着一些治疗良好的患者可能永远不需要 肾移植工作进展到新药审批。胱胺 眼药水（0.5%）溶解了年轻人的角膜胱氨酸晶体 孩子们，并消除了浑浊的眼睛，从年龄较大的孩子， 缓解恐布症。远端空泡性肌病已在 老年的移植后胱氨酸病患者。 2. 11名门克斯氏病患者参加了一项方案， 包括皮下注射组氨酸铜。癫痫发作控制 两名患者的基线血浆和CSF 神经递质的水平都有记录 3.第二位患有印度儿童肝硬化（IC）的美国患者 本汇报道。ICC成纤维细胞的金属硫蛋白合成，以及 金属硫蛋白IIA mRNA，已被证明是减少。成纤维 为研究ICC的基本缺陷提供了一个良好的模型体系。 4.一种新的碳水化合物代谢紊乱， 发育迟缓、多发性成骨不全和粗面， 介绍了尿寡糖分析显示有四糖 含有N-乙酰葡糖胺、N-乙酰半乳糖胺、岩藻糖， 半乳糖。

1. Members of the Section continue to care for 80 cystinosis patients who are offered therapy with cysteamine or phosphocysteamine. In pre- transplant patients, this has maintained renal function, assisted growth, and affected parenchymal organ cystine depletion. Early therapy with cysteamine allows for growth of renal function in the first 3 years of life, meaning that some well-treated patients may never require a renal transplant. Work proceeds to New Drug Approval. Cysteamine eyedrops (0.5%) have dissolved corneal cystine crystals in young children and removed the haziness from the eyes of older children, with relief of photophobia. A distal vacuolar myopathy has been described in older, post-transplant cystinosis patients. 2. Eleven patients with Menkes' disease have been enrolled in a protocol involving subcutaneously administered copper histidine. Seizure control has improved in two patients, and baseline plasma and CSF neurotransmitter levels have been documented. 3. The second American patient with Indian Childhood Cirrhosis (IC) has ben reported. Metallothionein synthesis by ICC fibroblasts, as well as metallothionein IIA mRNA, has been shown to be reduced. Fibroblasts provide a good model system in which to study the basic defect in ICC. 4. A new disorder of carbohydrate metabolism characterized by developmental delay, dysostosis multiplex, and coarse facies, has been described. Urinary oligosaccharide analysis reveals a tetrasaccharide containing N-acetylglucosamine, N-acetylgalactosamine, fucose, and galactose.