HUMAN BIOCHEMICAL GENETICS

(1)溶酶体外的半胱氨酸转运受钾的促进 离子。半胱胺通过形成半胱氨酸溶酶体来耗尽胱氨酸型溶酶体 半胱氨酸-半胱胺混合二硫化物，使溶酶体 不需要胱氨酸载体的工艺，这是有缺陷的 胱氨酸病。(2)肾性胱氨酸病患儿临床表现改善 如果用半胱胺治疗，生长和延缓肾脏恶化 3岁。肾脏Fanconi综合征的儿童表现出明显的 血浆和肌肉游离肉碱缺乏症 肾脏可以重新吸收肉碱。补充肉碱使血浆恢复正常 游离肉碱水平恢复正常。接受半胱胺治疗的半胱氨酸病儿童 慢性表现出对TRH的催乳素反应迟钝。杂合子 检测证实，法布里病和胱氨酸病的发生在 2个兄弟姐妹是这两个经典突变的罕见表现。 在一个家庭里。胱氨酸病的晚期并发症显示为 包括中枢神经系统、眼睛、胰腺、肺和唾液受累 腺体。(3)黏脂沉积症II，或I-细胞，成纤维细胞显示储存 由于胱氨酸从孤立的颗粒中排出而受损 分数。I-CELL的这种出口的半衰期超过100分钟 溶酶体，正常人为40分钟。(4)游离唾液酸贮积症 成纤维细胞在其溶酶体中储存游离唾液酸。唾液酸漏出 与正常人相比，这些溶酶体的含量微乎其微，这表明 这种紊乱表现为游离唾液酸溶酶体转运的缺陷。 酸。(5)正常男性，31岁，甲硫氨酸腺苷转移酶 缺乏症增加了25年的自然病史， 以前只有5名6岁或6岁以下的儿童。(6)6名病人 患有同型半胱氨酸尿症的患者正在接受甜菜碱双盲治疗， 确定该药物是否改善椎体的安慰剂对照研究 通过CT扫描测量骨密度。(7)半胱胺电荷移位 载脂蛋白E分子在体外和体内的研究，使载脂蛋白E 口服半胱胺治疗半胱氨酸换精氨酸疾病 导致无功能蛋白质的替换。

(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.