HUMAN BIOCHEMICAL GENETICS

1)30名患有胱氨酸病的儿童为 国内研究证实口服半胱胺的疗效 促进生长和延缓肾功能衰竭的治疗。在……里面 此外，半胱胺眼药水被证明对去除 青少年儿童角膜中的胱氨酸晶体 胱氨酸病。描述了胱氨酸病的晚期并发症， 包括脑萎缩、糖尿病、胰腺外分泌 功能障碍、肌肉萎缩伴实质结晶 积聚和眼部受累。一名患者接受了 一次成功的角膜移植。肉碱缺乏者 范可尼综合征患者继续口服肉碱治疗 在肌肉组织学正常化方面取得了一些成功。2)唾液酸 酸在溶酶体膜上的运输被证明是 不仅在Salla病上有缺陷，而且在婴儿自由唾液症上也有缺陷 酸性强迫症成纤维细胞。游离唾液酸的肾脏处理 唾液酸变异体的唾液酸代谢 初步调查。3)LOWE(眼脑肾)综合征 成纤维细胞显示正常的蛋白多糖合成速率和 硫酸盐化，但核苷酸焦磷酸酶活性增加。 介绍了一种分离蛋白多糖的高效液相色谱方法。4) 酪氨酸等神经的溶酶体转运系统 在大鼠FRTL-5甲状腺细胞溶酶体中发现的氨基酸 显示对促甲状腺激素有反应。5)初步证据表明 FRTL-5细胞含有MIT的溶酶载体，解释说 碘是如何被这些细胞回收利用的。6)硫磺 1例MAT缺乏症患者的甲基平衡研究 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。

1) Thirty children with cystinosis contributed data toward a national study demonstrating the efficacy of oral cysteamine therapy in enhancing growth and retardign renal failure. In addition, cysteamine eyedrops proved efficacious in removing cystine crystals from the corneas of young children with cystinosis. Late complications of cystinosis are described, including cerebral atrophy, diabetes mellitus, pancreatic exocrine dysfunction, muscle atrophy with parenchymal crystal accumulation, and ophthalmic involvement. One patient received a successful corneal transplant. Carnitine-deficient individuals with Fanconi syndrome continue to be treated with oral carnitine with some success in normalizing their muscle histology. 2) Sialic acid transport across the lysosomal membrane was shown to be defective not only in Salla disease but also an infantile free sialic acid stronge disease fibroblasts. Renal handling of free sialic acid and sialic acid metabolism in sialuria variants have been preliminarily investigated. 3) Lowe (oculocerebrorenal) syndrome fibroblasts manifested normal rates of proteoglycan synthesis and sulfation, but an increased activity of nucleotide pyrophosphatase. An HPLC method for separating proteoglycans was described. 4) The lysosomal transport system for tyrosine and other neural amino acids, discovered in rat FRTL-5 thyroid cell lysosomes was shown to be TSH-responsive. 5) Preliminary evidence shows that the FRTL-5 cells contain a lysosmal carrier for MIT, explaining how iodine is salvaged for reutilization by these cells. 6) 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.