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Abstract：
BACKGROUND: Branched-chain amino acid (BCAA) concentrations must be tracked and maintained within an optimal range to minimize disease phenotypes in patients with maple syrup urine disease (MSUD). In 2014, the Hospital for Sick Children (SickKids) implemented a dried blood spot (DBS) home monitoring system, allowing patients to track BCAA concentrations without the inconvenience of having to travel to the hospital.
METHODS: We conducted a retrospective chart review study (n = 15) to assess the impacts of DBS monitoring implementation on biochemical control. Furthermore, we explored relationships among various MSUD patient parameters, including monitoring frequency, age, biochemical control, and hospitalizations.
RESULTS: There was a 35% increase in the proportion of LEU concentrations that met recommended targets post-DBS monitoring implementation. Monitoring frequency was positively associated with better biochemical control in the newborn period (r = 0.68, p = 0.046). Frequency of hospital visits decreased steadily throughout life.
CONCLUSIONS: DBS monitoring has resulted in a sharp increase in monitoring frequency, which is further correlated with biochemical control. Younger patients are more likely to visit the hospital and respond better to increased monitoring efforts. We recommend that DBS monitoring be adopted by other centers more broadly to improve metabolic control in MSUD patients.
METHODS: We conducted a retrospective chart review study (n = 15) to assess the impacts of DBS monitoring implementation on biochemical control. Furthermore, we explored relationships among various MSUD patient parameters, including monitoring frequency, age, biochemical control, and hospitalizations.
RESULTS: There was a 35% increase in the proportion of LEU concentrations that met recommended targets post-DBS monitoring implementation. Monitoring frequency was positively associated with better biochemical control in the newborn period (r = 0.68, p = 0.046). Frequency of hospital visits decreased steadily throughout life.
CONCLUSIONS: DBS monitoring has resulted in a sharp increase in monitoring frequency, which is further correlated with biochemical control. Younger patients are more likely to visit the hospital and respond better to increased monitoring efforts. We recommend that DBS monitoring be adopted by other centers more broadly to improve metabolic control in MSUD patients.
摘要：
背景：必须跟踪支链氨基酸（BCAA）浓度并将其维持在最佳范围内，以最大程度地减少枫糖浆尿病（MSUD）患者的疾病表型。2014年，病童医院（SickKids）实施了干血斑（DBS）家庭监测系统，允许患者跟踪BCAA浓度，而不必前往医院。
方法：我们进行了回顾性图表回顾研究（n=15），以评估实施DBS监测对生化控制的影响。此外，我们探索了各种MSUD患者参数之间的关系，包括监测频率，年龄,生化控制，和住院。
结果：在实施DBS监测后，LEU浓度达到推荐目标的比例增加了35%。监测频率与新生期更好的生化控制呈正相关（r=0.68，p=0.046）。一生中住院的频率稳步下降。
结论：DBS监测导致监测频率急剧增加，这进一步与生化控制相关。年轻的患者更有可能去医院就诊，并对增加的监测工作做出更好的反应。我们建议其他中心更广泛地采用DBS监测，以改善MSUD患者的代谢控制。
方法：我们进行了回顾性图表回顾研究（n=15），以评估实施DBS监测对生化控制的影响。此外，我们探索了各种MSUD患者参数之间的关系，包括监测频率，年龄,生化控制，和住院。
结果：在实施DBS监测后，LEU浓度达到推荐目标的比例增加了35%。监测频率与新生期更好的生化控制呈正相关（r=0.68，p=0.046）。一生中住院的频率稳步下降。
结论：DBS监测导致监测频率急剧增加，这进一步与生化控制相关。年轻的患者更有可能去医院就诊，并对增加的监测工作做出更好的反应。我们建议其他中心更广泛地采用DBS监测，以改善MSUD患者的代谢控制。
