在Phenylketonuria患者中的同型氨酸和甲基马龙酸
Giovana Regina Weber Hoss1,2, Fernanda Sperb-Ludwig1,2, Tássia Tonon1
1Hospital de Clínicas de Porto Alegre, Laboratório BRAIN, Porto Alegre, RS, Brazil.
Genetics and molecular biology
|April 9, 2024
概括
用代谢配方治疗的基尿症 (PKU) 患者很少表现出增加的总同型氨酸 (tHcy) 或维生素B12缺乏. 坚持饮食是控制这些水平和预防并发症的关键.
科学领域:
- 生物化学 生物化学
- 代谢障碍 代谢障碍 代谢障碍
- 营养科学 营养科学
背景情况:
- 过高homocysteinemia和维生素B12缺乏是基尿 (PKU) 的潜在问题.
- 食管理PKU涉及代谢配方控制氨 (Phe) 水平.
研究的目的:
- 为了调查PKU患者的总同型半氨酸 (tHcy) 和甲基马龙酸 (MMA) 水平.
- 评估代谢配方治疗和氨控制对THC和MMA水平的影响.
- 为了评估坚持饮食治疗的PKU患者的维生素B12状态.
主要方法:
- 对25名PKU患者的THcy和MMA水平的分析.
- 生物化学标志物的比较治疗前和治疗后,在高与正常/低Phe期间,以及跨妊娠阶段.
- 评估遵守饮食管理的情况.
主要成果:
- 在用代谢配方治疗PKU后,tHcy水平显著下降 (p=0.014).
- 大多数PKU患者的THC水平保持在正常范围内,34%的患者的THC水平低于5μmol/L.
- 没有观察到MMA水平的显著差异;所有都保持在正常范围内.
- 在怀孕期间,Phe,THcy和氨酸水平下降.
结论:
- 坚持代谢配方治疗的PKU患者通常不会表现出高homocysteinemia或维生素B12缺乏.
- 坚持饮食是维持正常THC和MMA水平以及预防PKU中维生素B12缺乏的关键.
- 这项研究表明,严格的饮食管理可以有效地预防PKU中B12缺乏的生化标志物.
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