HUMAN BIOCHEMICAL GENETICS

(1)渗透性钾离子可促进胱氨酸移出溶酶体 离子。 半胱胺通过形成半胱氨酸， 半胱氨酸-半胱胺混合二硫化物，其通过 不需要胱氨酸载体的方法，其在 胱氨酸病 (2)肾病性胱氨酸病的儿童表现改善 生长和减缓肾恶化，如果治疗前用半胱胺 三岁。 患有肾范可尼综合征的儿童表现出明显的 缺乏血浆和肌肉游离肉毒碱由于失败的 肾脏重吸收肉毒碱。 肉毒碱补充恢复血浆 游离肉毒碱水平恢复正常 接受半胱胺治疗的胱氨酸病儿童 对TRH的催乳素反应迟钝。 杂合子 检测证实， 两个兄弟姐妹代表了两个经典突变的罕见表现， 在一个家庭里。 研究表明，胱氨酸病的晚期并发症 包括中枢神经系统、眼睛、胰腺、肺和唾液的受累 腺体 (3)粘脂沉积症II型，或I细胞，成纤维细胞显示储存 由于胱氨酸从分离的颗粒中流出受损而导致胱氨酸 分数 I-cell的这种排出的半衰期超过100 min 溶酶体和正常40 min。 (4)游离唾液酸贮积病 成纤维细胞在其溶酶体中储存游离唾液酸。 唾液酸排出 与正常人相比可以忽略不计，这表明， 该疾病代表游离唾液酸的溶酶体转运缺陷， 酸 (5)甲硫氨酸腺苷转移酶正常的31岁男性 缺乏提供了25年的额外自然史的障碍， 之前仅在5名6岁或以下儿童中描述。 (6)六名患者 高胱氨酸尿症患者正在接受甜菜碱治疗， 安慰剂对照研究，以确定药物是否改善椎体 骨密度，通过CT扫描测量。 (7)半胱胺电荷位移 载脂蛋白E分子在体外和体内，使可行的 口服半胱胺治疗半胱氨酸置换精氨酸疾病 导致无功能蛋白质的取代。

(1) Cystine movement out of lysosomes is enhanced by permeant potassium ions. Cysteamine depletes cystinotic lysosomes of cystine by forming cysteine-cysteamine mixed disulfide, which leaves the lysosome by a process not requiring the cystine carrier, which is defective in cystinosis. (2) Children with nephropathic cystinosis manifest improved growth and slowed renal deterioration if treated with cysteamine before 3 years of age. Children with renal Fanconi syndrome exhibited a marked deficiency of plasma and muscle free carnitine due to failure of the kidney to reabsorb carnitine. Carnitine supplementation restored plasma free carnitine levels to normal. Cystinotic children receiving cysteamine chronically displayed a blunted prolactin response to TRH. Heterozygote testing verified that the occurrence of Fabry disease and cystinosis in 2 siblings represented a rare manifestation of the two classical mutations in a single family. Late complications of cystinosis were shown to include involvement of the CNS, eyes, pancrease, lungs, and salivary glands. (3) Mucolipidosis II, or I-cell, fibroblasts were shown to store cystine due to impaired egress of cystine out of isolated granular fractions. The half-times for such egress were over 100 min for I-cell lysosomes and 40 min for normals. (4) Free sialic acid storage disease fibroblasts store free sialic acid in their lysosomes. Sialic acid egress from these lysosomes was negligible compared with normals, suggesting that the disorder represents a defect in lysosomal transport of free sialic acid. (5) A normal 31-year-old man with methionine adenosyltransferase deficiency offers 25 years of additional natural history to the disorder, previously described only in 5 children age 6 or below. (6) Six patients with homocystinuria are receiving betaine therapy in a double-blind, placebo-controlled study to determine if the drug improves vertebral body bone density, measured by CT scan. (7) Cysteamine charge-shifted apolipoprotein E molecules in vitro and in vivo, making feasible the treatment by oral cysteamine of diseases with cysteine-for-arginine substitutions which result in nonfunctional proteins.