HUMAN BIOCHEMICAL GENETICS

1)肾移植前膀胱氨酸病患儿35例 向国家议定书提供数据，旨在确定 大剂量半胱胺/磷酸半胱胺优于标准 剂量疗法。半胱胺滴眼液(0.5%)用于 溶解2岁以上儿童的角膜晶体。晚些 描述了胱氨酸病的并发症，包括外分泌和 内分泌胰腺功能不全，肌病，眼科和 神经牵连。一名婴儿发展为肾性范可尼 从14天开始接受半胱胺治疗的综合征，还有一人 一名患有半胱氨酸病的妇女在服用半胱氨酸的情况下生下了一个正常的男孩 她的胎盘里有水晶。卡尼汀治疗慢性阻塞性肺疾病 范柯尼综合征仍在继续。 2.)唾液酸可通过溶酶体膜转运。 不仅在萨拉病上有缺陷，在婴儿身上也有缺陷 游离唾液酸蓄积症成纤维细胞。游离唾液酸是 显示被过滤，但不被人类肾脏重新吸收。 3.)描述了中枢性脱髓鞘和周围神经病。 Lowe的眼-脑-肾综合征。结果发现， 杂合子可能会影响神经系统。一项协议是 成立的目的是研究这种疾病的临床和生化方面 X连锁疾病。 4.)酪氨酸和其他中性物质的溶酶体转运系统 在大鼠FRTL-5甲状腺细胞溶酶体中发现的氨基酸是 显示对促甲状腺激素有反应。溶酶体运输系统也是如此 一碘酪氨酸(MIT)。这艘航母的存在，它 可能与酪氨酸携带者相同，解释了甲状腺 细胞可以回收甲状腺球蛋白中的碘，以供再利用。 5.)一例MAT缺乏症患者的硫和甲基平衡研究 在活体内证明了这一点。S-腺苷蛋氨酸调节 同型半胱氨酸在降解为无机之间的分配 硫酸盐和甲基化为甲硫氨酸。甜菜碱疗法被展示出来 不能提高吡哆醇的骨密度--无反应 同型半胱氨酸尿。 6.)1例2岁男童肝脏铜储存和聚集 在他的成纤维细胞中帮助证明了印度童年 肝硬变是一种遗传病。 7.)不明原因溶酶体储存患者的成纤维细胞 正在对疾病进行筛查，以确定储存的材料。

1.) Thirty-five children with cystinosis pre-renal transplant contribute data to a national protocol aimed at determining whether high dose cysteamine/phosphocysteamine is preferable to standard dose therapy. Cysteamine eyedrops (0.5%) are being used to dissolve corneal crystals in children over 2 years of age. Late complications of cystinosis are described, including exocrine and endocrine pancreatic insufficiency, myopathy, and ophthalmic and neurological involvement. One infant developed renal Fanconi syndrome despite cysteamine therapy from 14 days of age, and one cystinotic woman gave birth to a normal boy despite cystine crystals in her placenta. Carnitine therapy for patients with Fanconi syndrome continues to be pursued. 2.) Sialic acid transport across the lysosomal membrane was shown to be defective not only in Salla disease but also in infantile free sialic acid storage disease fibroblasts. Free sialic acid was shown to be filtered but not reabsorbed by the human kidney. 3.) Central demyelination and peripheral neuropathy were described in oculocerebrorenal syndrome of Lowe. It was found that heterozygotes can have nervous system involvement. A protocol was established to study the clinical and biochemical aspects of this X-linked disease. 4.) The lysosomal transport system for tyrosine and other neutral amino acids, discovered in rat FRTL-5 thyroid cell lysosomes, was shown to be TSH-responsive. So was a lysosomal transport system for monoiodotyrosine (MIT). The existence of this carrier, which may be identical to the tyrosine carrier, explains how thyroid cells can salvage thyroglobulin's iodine for reutilization. 5.) Sulfur and methyl balance studies on an MAT-deficient patient demonstrated that, in vivo. S-adenosylmethionine regulates the partitioning of homocysteine between degradation to inorganic sulfate and remethylation to methionine. Betaine therapy was shown not to improve bone density in pyridoxine-nonresponsive homocystinuria. 6.) A 2-year old boy with hepatic copper storage and aggregates in his fibroblasts helped demonstrate that Indian Childhood Cirrhosis is a genetic disease. 7.) Fibroblasts from patients with unknown lysosomal storage diseases are being screened to identify the stored material.