HUMAN BIOCHEMICAL GENETICS

该科的成员继续照顾100多名病人， 肾病性胱氨酸病移植前患者接受口服磷酸- 磷酸半胱胺，它允许肾脏的维持或生长， 在这些人身上发挥作用。 六名移植前患者也被 口服左旋肉碱治疗，使其血浆水平恢复正常 大约5年后， 心理治疗 研究移植后患者的非肾功能 并发症，并提供口服磷酸半胱胺。 半胱胺滴眼液 (0.5%）溶解了幼儿的角膜晶体， 大一点的孩子的眼睛里充满了朦胧。 基因排除图已经被 使用CA重复序列作为连锁中的多态性构建胱氨酸病 分析. 在其他研究中，17名Menkes病患者接受了 每天皮下注射组氨酸铜 一直以来， 在几个病人的临床改善。 血浆和脑脊液 神经递质比率已被证明有助于诊断这一点 disorder. 特定的分子突变正在个体中进行， 患者 研究继续进入碳水化合物缺乏Glycopro- tein综合征 一种血清糖蛋白，α- 1抗胰蛋白酶，其N-乙酰葡糖胺与甘露糖的比例异常 半乳糖转化为甘露糖。 这为我们提供了一个基本缺陷的线索 在这种混乱中。

Members of the Section continue to care for over 100 patients with nephropathic cystinosis. Pre-transplant patients receive oral phos- phocysteamine, which has allowed for maintenance or growth of renal function in these individuals. Six pre-transplant patients were also treated with oral L-carnitine which restored their plasma levels to normal and resulted in normal muscle carnitine levels after approximately 5 years of therapy. Post-transplant patients are studied for their nonrenal complications and are offered oral phosphocysteamine. Cysteamine eyedrops (0.5%) have dissolved corneal crystals in young children and removed the haziness from the eyes of older children. A gene exclusion map has been constructed for cystinosis using CA repeats as polymorphisms in linkage analysis. In other studies, 17 patients with Menkes disease have received daily subcutaneous injections of copper histidine. There has been modest clinical improvement in several patients. Plasma and cerebrospinal fluid neurotransmitter ratios have proven useful for the diagnosis of this disorder. Specific molecular mutations are being pursued in individual patients. Investigations continue into Carbohydrate Deficient Glycopro- tein Syndrome. The carbohydrate pattern of one serum glycoprotein, alpha- 1 antitrypsin, is abnormal in its ratio of N-acetylglucosamine to mannose and of galactose to mannose. This provides a clue into the basic defect in this disorder.