HUMAN BIOCHEMICAL GENETICS

1)30名患有胱氨酸病的儿童提供了数据， 一项证明口服半胱胺疗效的国家研究 促进生长和延缓肾衰竭的治疗。 在 此外，半胱胺滴眼液被证明有效地去除 胱氨酸晶体从幼儿角膜与 胱氨酸病 胱氨酸病的晚期并发症描述， 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。 1例患者接受 成功的角膜移植 肉毒碱缺乏个体 与范可尼综合征继续与口服肉毒碱治疗 在恢复肌肉组织正常化方面取得了一些成功。 2)唾液 酸通过溶酶体膜的转运被证明是 不仅在萨拉病中有缺陷， 酸性肺病成纤维细胞。 游离唾液酸的肾脏处理 和唾液酸代谢在sidelia变种已经 初步调查。 3)Lowe（眼脑肾）综合征 成纤维细胞表现出正常的蛋白多糖合成率， 硫酸化，但核苷酸焦磷酸酶的活性增加。 建立了一种分离蛋白多糖的高效液相色谱法。 四、 酪氨酸和其他神经递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， 显示为促甲状腺激素敏感。 5)初步证据显示， FRTL-5细胞含有MIT的溶酶体载体，解释了 碘是如何被这些细胞回收再利用的。 6)硫 和甲基平衡的研究， 证明了这一点。 S-腺苷甲硫氨酸调节 同型半胱氨酸在降解为无机半胱氨酸之间的分配 硫酸化和再甲基化为蛋氨酸。

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.