Avila Christine Mae S, Abacan Mary Ann R
Division of Clinical and Metabolic Genetics, Department of Pediatrics, Philippine General Hospital University of the Philippines Manila Philippines.
Institute of Human Genetics, National Institutes of Health University of the Philippines Manila Philippines.
JIMD Rep. 2024 Nov 17;66(1):e12458. doi: 10.1002/jmd2.12458. eCollection 2025 Jan.
This study aims to determine the factors associated with mortality and neurodevelopmental morbidity in patients with Maple Syrup Urine Disease (MSUD) seen at a tertiary hospital in the Philippines during a 10-year period. The medical records of patients diagnosed with MSUD seen at Philippine General Hospital (PGH) from 2010 to 2019 were reviewed. Socioeconomic, healthcare, and clinical factors were determined. The association of these factors with mortality and neurodevelopmental morbidity (developmental delay and seizures) was evaluated through statistical analysis. Seventy-five records of MUSD cases were available for review. Fifty-five percent of patients had developmental delay and 57% had seizures. Mortality rate was 25%. Age at collection of newborn screening (OR 1.29, 95% CI 1.04-1.60, = 0.022) and the number of metabolic crisis in a year (OR 5.4, 95% CI 1.5-19.0, = 0.008) were significantly associated with increased mortality. Male sex (OR 2.78, 95% CI 1.06-7.26, = 0.037) and dietary non-compliance (OR 2.56, 95% CI 1.48-4.42, = 0.001) were associated with increased developmental delay. Age above 5 years (OR 6.5, 95% CI 1.15-36.57, = 0.034) and nosocomial infections (OR 6.96, 95% CI 1.33-36.53, = 0.022) were associated with occurrence of seizures. In conclusion, among our cohort of MSUD patients, the age at collection of newborn screening and the number of metabolic crises annually were associated with increased mortality. Male sex, dietary non-compliance, and nosocomial infections were associated with increased neurodevelopmental morbidity.
本研究旨在确定菲律宾一家三级医院10年间诊治的枫糖尿症（MSUD）患者中与死亡率和神经发育疾病相关的因素。回顾了2010年至2019年在菲律宾总医院（PGH）确诊为MSUD的患者的病历。确定了社会经济、医疗保健和临床因素。通过统计分析评估这些因素与死亡率和神经发育疾病（发育迟缓与癫痫发作）之间的关联。有75份MUSD病例记录可供审查。55%的患者有发育迟缓，57%的患者有癫痫发作。死亡率为25%。新生儿筛查采集时的年龄（比值比1.29，95%置信区间1.04 - 1.60，P = 0.022）和一年中代谢危机次数（比值比5.4，95%置信区间1.5 - 19.0，P = 0.008）与死亡率增加显著相关。男性（比值比2.78，95%置信区间1.06 - 7.26，P = 0.037）和饮食不依从（比值比2.56，95%置信区间1.48 - 4.42，P = 0.001）与发育迟缓增加相关。年龄大于5岁（比值比6.5，95%置信区间1.15 - 36.57，P = 0.034）和医院感染（比值比6.96，95%置信区间1.33 - 36.53，P = 0.022）与癫痫发作的发生相关。总之，在我们的MSUD患者队列中，新生儿筛查采集时的年龄和每年的代谢危机次数与死亡率增加相关。男性、饮食不依从和医院感染与神经发育疾病增加相关。
