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青少年的代谢控制和临床结果与基尿症
Agnese De Giorgi1, Francesca Nardecchia1, Cristina Romani2
1Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
Molecular genetics and metabolism
|September 6, 2023
概括
新生儿查和饮食改善了基尿 (PKU) 的结果. 然而,青少年的高氨酸水平仍然影响神经认知,需要终身代谢控制大脑健康.
科学领域:
- 神经科学是一个神经科学.
- 代谢障碍 代谢障碍 代谢障碍
- 发展心理学 发展心理学
背景情况:
- 基尿症 (PKU) 管理已取得进展,减少了严重的神经缺陷.
- 在早期接受治疗的个体中,在青春期和成年期增加氨 (Phe) 的长期神经认知影响仍然令人担忧.
- 确定PKU患者在生命第二十年的最佳代谢目标至关重要.
研究的目的:
- 系统地审查临床数据,确定早期治疗的PKU患者在生命的第二十年中最安全的代谢标.
- 评估青春期代谢控制和神经认知结果之间的关系及其对成人功能的影响.
主要方法:
- 对符合纳入标准的20项研究进行系统审查.
- 纳入标准侧重于研究青少年代谢控制和神经认知功能,或青少年代谢控制对成人结果的影响.
主要成果:
- 大多数研究表明,青少年的新陈代谢控制与神经认知结果之间存在正相关性,包括智商和执行功能.
- 有证据表明,大脑在青春期对氨容易受到伤害,这凸显了需要稳定,低水平的Phe水平.
- 对执行职能的数据不如智商的数据那么有说服力,需要进一步调查它们对Phe的脆弱性.
结论:
- 对于患有PKU的人来说,建议保持低平均氨水平并尽量减少一生中的波动.
- 目前的研究结果与欧洲指导方针一致,但并未确定青少年的Phe血安全值.
- 个体间的变化和研究的局限性凸显了对个性化PKU管理的进一步研究的需要.
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