对于残疾儿童的氨基酸尿症:一项使用离子交换染色学作为查测试的研究
Lancet (London, England)
|July 4, 1981
概括
对儿童氨基酸分泌的分析显示,18名患者的氨基酸分泌水平异常. 这些发现突出了通过氨基酸尿查检测到的潜在代谢障碍.
科学领域:
- 生物化学 生物化学
- 儿科 儿科 儿科
- 医学遗传学 医学遗传学
背景情况:
- 氨基酸尿,氨基酸在尿液中的分泌,可以表明潜在的代谢障碍.
- 确定氨基酸分泌的正常参考范围对于在儿童中诊断这些疾病至关重要.
研究的目的:
- 测量和分析正常和残疾儿童队列中的氨基酸分泌水平.
- 为了识别分泌氨基酸超过既定正常百分位的个体.
主要方法:
- 使用离子交换色谱测量氨基酸分泌量.
- 使用计算机辅助的统计分析来确定正常频率分布.
- 异常分泌被定义为超过99.75或100百分位数的水平.
主要成果:
- 在75名残疾儿童中,18人表现出异常的氨基酸分泌.
- 确定的疾病包括二基氨基酸尿,基尿,高氨酸尿,囊氨尿,高甘油尿和高尿.
- 具体的病例涉及结合性高糖尿和高尿,一个儿童显示多种氨基酸 (氨酸,氨酸,氨酸,氨酸,氨酸) 的水平升高.
结论:
- 异常的氨基酸分泌存在于身体和/或精神残疾儿童的子组中.
- 该研究成功地确定了特定的氨基酸,强调了染色体分析在诊断代谢障碍方面的有用性.
- 对已确定的病例进行进一步调查是有必要的,以了解这些氨基酸的临床影响.
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