HUMAN BIOCHEMICAL GENETICS

L. 该科的成员继续照顾80名胱氨酸病患者， 提供半胱胺或磷酸半胱胺治疗。 在预- 移植患者，这维持了肾功能，辅助生长， 并影响实质器官胱氨酸耗竭。 工作进展到新 药物批准。 半胱胺滴眼液（0.5%）溶解了角膜胱氨酸 晶体在年幼的孩子，并消除了浑浊的眼睛从老年人 孩子们，缓解了恐惧症。 2. 世界上第四个病人被描述为sibridia， CMP-唾液酸抑制UDP N-乙酰葡糖胺2-的缺陷 差向异构酶活性。 3. 八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 水平已被记录。 4. 库珀印迹技术已被用来证明，人类 锰超氧化物歧化酶结合铜。 该技术似乎 适用于测定其他细胞的铜结合能力 蛋白质也是。 5. 印度儿童的电子致密细胞内聚集体 肝硬化已被确定为硫化铜，和缺陷已被 发现在培养的成纤维细胞中表达。 第二个美国病人 这种致命的肝脏疾病已经报道。 6. 脐带穿刺术提供了胎儿血液，用于比较胎儿的氨基 酸浓度与母体氨基酸浓度。 胎儿 集中指数，6个月胎儿/母体比率的数值平均值 选择的氨基酸，不随胎龄变化，但 宫内发育迟缓的妊娠率显著降低。

l. 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 effected parenchymal organ cystine depletion. 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 ofphotophobia. 2. The fourth patient in the world has been described with sialuria, a defect in CMP-sialic acid inhibition of UDP N- acetylglucosamine 2- epimerase activity. 3. Eight patients with Menkes' disease have been enrolled in a protocol involving subcutaneously administered copper histidinate. Seizure control has improved in two patients, and baseline plasma and CSF neurotransmitter levels have been documented. 4. A cooper blotting technique has been employed to demonstrate that human manganese superoxide dismutase binds copper. The technique appears applicable for determining the copper-binding ability of other cellular proteins as well. 5. The electron dense intracellular aggregates of Indian Childhood Cirrhosis have been identified as copper sulfide, and the defect has been found to be expressed in cultured fibroblasts. The second American patient with this fatal liver disease has been reported. 6. Cordocentesis has provided fetal blood for comparison of fetal amino acid concentrations with maternal amino acid concentrations. A Fetal Concentrating Index, the numerical mean of fetal/maternal ratios for 6 selected amino acids, did not vary with gestational age but was significantly reduced in intrauterine growth retarded pregnancies.