在严重的甲基马龙酸和酸性酸性疾病中进行营养管理:有多少医疗食品是过多的?
Diane Margoses1, Apolline Imbard2,3,4, Clément Pontoizeau3,5,6
1Reference Centre for Inborn Errors of Metabolism, Necker-Enfants Malades Hospital, APHP, Filière G2m, MetabERN, Paris, France.
Journal of inherited metabolic disease
|December 4, 2025
概括
氨基酸混合物 (AAM) 可能通过改变血氨基酸水平,使甲基马龙酸血症 (MMA) 和酸血症 (PA) 患者的结果恶化. 建议优先考虑天然蛋白质摄入量,以更好地控制疾病.
科学领域:
- 生物化学 生物化学
- 遗传学 遗传学是一种遗传学.
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 甲基马龙酸血症 (MMA) 和酸血症 (PA) 是一种遗传性代谢障碍,影响了氨酸和异黄素的代谢.
- 目前的管理涉及饮食蛋白质限制,当蛋白质摄入量不足时,经常补充氨基酸混合物 (AAM).
- AAM对疾病控制和MMA和PA患者的临床影响仍然不充分理解.
研究的目的:
- 为了追溯分析维生素B12不反应的MMA和PA患者的饮食处方.
- 评估AAM补充对临床和实验室参数的影响.
- 评估AAM使用与血氨基酸度,营养状况和临床结果之间的关联.
主要方法:
- 71名MMA和PA患者的临床数据,人体测量和饮食处方的回顾性审查.
- 饮食中的蛋白质摄入量与世卫组织建议的比较.
- 对血氨基酸度的分析,包括isoleucine,valine和leucine,在有和没有AAM补充剂的患者中.
主要成果:
- 59%的患者的饮食蛋白质摄入量低于世卫组织的建议.
- 尽管服用补充剂,但AAM补充剂与血异黄素和氨酸度的降低有关.
- 接受AAM治疗的患者表现出营养和临床评分的恶化,白氨酸/单氨酸和白氨酸/氨酸的比例持续升高.
结论:
- 在MMA/PA患者中服用AAM补充剂可能会导致血氨基酸样本的改变,并可能导致长期负面后果.
- 在可行的情况下,建议优先考虑天然蛋白质摄入量而不是AAM.
- 如果需要AAM,仔细监测和适度补充瓦林和异黄素至关重要,以防止缺陷.
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