Abstract：
BACKGROUND: . Neonatal screening of glutaric aciduria type 1 (GA-1) has brought radical changes in the course and outcomes of this disease. This study analyses the outcomes of the first 5 years (2015-2019) of the AGA1 neonatal screening programme in our autonomous community.
METHODS: . We conducted an observational, descriptive and retrospective study. All neonates born between January 1, 2015 and December 31, 2019 that participated in the neonatal screening programme were included in the study. The glutarylcarnitine (C5DC) concentration in dry blood spot samples was measured by means of tandem mass spectrometry applying a cut-off point of 0.25 µmol/L.
RESULTS: . A total of 30 120 newborns underwent screening. We found differences in the C5DC concentration based on gestational age, type of feeding and hours of life at sample collection. These differences were not relevant for screening purposes. There were no differences between neonates with weights smaller and greater than 1500 g. Screening identified 2 affected patients and there were 3 false positives. There were no false negatives. The diagnosis was confirmed by genetic testing. Patients have been in treatment since diagnosis and have not developed encephalopathic crises in the first 4 years of life.
CONCLUSIONS: . Screening allowed early diagnosis of two cases of GA-1 in the first 5 years since its introduction in our autonomous community. Although there were differences in C5DC levels based on gestational age, type of feeding and hours of life at blood extraction, they were not relevant for screening.
METHODS: . We conducted an observational, descriptive and retrospective study. All neonates born between January 1, 2015 and December 31, 2019 that participated in the neonatal screening programme were included in the study. The glutarylcarnitine (C5DC) concentration in dry blood spot samples was measured by means of tandem mass spectrometry applying a cut-off point of 0.25 µmol/L.
RESULTS: . A total of 30 120 newborns underwent screening. We found differences in the C5DC concentration based on gestational age, type of feeding and hours of life at sample collection. These differences were not relevant for screening purposes. There were no differences between neonates with weights smaller and greater than 1500 g. Screening identified 2 affected patients and there were 3 false positives. There were no false negatives. The diagnosis was confirmed by genetic testing. Patients have been in treatment since diagnosis and have not developed encephalopathic crises in the first 4 years of life.
CONCLUSIONS: . Screening allowed early diagnosis of two cases of GA-1 in the first 5 years since its introduction in our autonomous community. Although there were differences in C5DC levels based on gestational age, type of feeding and hours of life at blood extraction, they were not relevant for screening.
摘要：
背景：。1型戊二酸尿症（GA-1）的新生儿筛查给该疾病的病程和结局带来了根本性的变化。这项研究分析了我们自治社区AGA1新生儿筛查计划的前5年（2015-2019年）的结果。
方法：。我们进行了一次观察,描述性和回顾性研究。在2015年1月1日至2019年12月31日期间出生的所有参与新生儿筛查计划的新生儿都被纳入研究。通过串联质谱法测量干血斑样品中的戊二酰基肉碱（C5DC）浓度，截止点为0.25μmol/L。
结果：。共有30120名新生儿接受了筛查。我们发现基于胎龄的C5DC浓度存在差异，样本采集时的喂养类型和寿命。这些差异与筛选目的无关。体重小于和大于1500g的新生儿之间没有差异。筛查确定了2名受影响的患者，有3名假阳性。没有假阴性。基因检测证实了诊断。患者自诊断以来一直在接受治疗，并且在生命的前4年没有出现脑病危象。
结论：。自GA-1引入我们的自治社区以来的前5年，筛查允许对2例GA-1进行早期诊断。虽然C5DC水平根据胎龄有差异，采血时的喂养类型和寿命，它们与筛查无关.
方法：。我们进行了一次观察,描述性和回顾性研究。在2015年1月1日至2019年12月31日期间出生的所有参与新生儿筛查计划的新生儿都被纳入研究。通过串联质谱法测量干血斑样品中的戊二酰基肉碱（C5DC）浓度，截止点为0.25μmol/L。
结果：。共有30120名新生儿接受了筛查。我们发现基于胎龄的C5DC浓度存在差异，样本采集时的喂养类型和寿命。这些差异与筛选目的无关。体重小于和大于1500g的新生儿之间没有差异。筛查确定了2名受影响的患者，有3名假阳性。没有假阴性。基因检测证实了诊断。患者自诊断以来一直在接受治疗，并且在生命的前4年没有出现脑病危象。
结论：。自GA-1引入我们的自治社区以来的前5年，筛查允许对2例GA-1进行早期诊断。虽然C5DC水平根据胎龄有差异，采血时的喂养类型和寿命，它们与筛查无关.
