Abstract：
There are no recommended guidelines or clinical studies on safety of COVID-19 vaccines in patients with inborn errors of metabolism (IEMs). Here, we aimed to examine the relationship between COVID-19 vaccination and metabolic outcome in paediatric IEM patients.
Patients with IEM between the ages of 12 and 18 were enrolled. Term metabolic decompensation was defined as acute disruption in metabolic homeostasis due to vaccination. Clinical and biochemical markers were compared between pre- and post-vaccination periods.
Data from a total of 36 vaccination episodes in 18 patients were included. Thirteen patients had intoxication-type metabolic disorders including organic acidemia (OA), urea cycle disorders (UCDs), maple syrup urine disease (MSUD) and phenylketonuria (PKU); 4 patients had energy metabolism disorders including fatty acid metabolism disorders and LIPIN 1 deficiency; and 1 patient had glycogen storage disorder (GSD) type 5. Seventeen patients received BNT162b2, and 1 received CoronaVac because of an underlying long QT syndrome. Fatty acid metabolism disorders, LIPIN 1 deficiency and GSD type 5 were included in the same group named \'metabolic myopathies\'. In two PKU patients, plasma phenylalanine level increased significantly within 24 h following the second dose of vaccination. None of the OA, UCD, MSUD and metabolic myopathy patients experienced acute metabolic attack and had emergency department admission due to metabolic decompensation within 1 month after vaccination.
COVID-19 vaccines did not cause acute metabolic decompensation in a cohort of 18 children with IEM.
Patients with IEM between the ages of 12 and 18 were enrolled. Term metabolic decompensation was defined as acute disruption in metabolic homeostasis due to vaccination. Clinical and biochemical markers were compared between pre- and post-vaccination periods.
Data from a total of 36 vaccination episodes in 18 patients were included. Thirteen patients had intoxication-type metabolic disorders including organic acidemia (OA), urea cycle disorders (UCDs), maple syrup urine disease (MSUD) and phenylketonuria (PKU); 4 patients had energy metabolism disorders including fatty acid metabolism disorders and LIPIN 1 deficiency; and 1 patient had glycogen storage disorder (GSD) type 5. Seventeen patients received BNT162b2, and 1 received CoronaVac because of an underlying long QT syndrome. Fatty acid metabolism disorders, LIPIN 1 deficiency and GSD type 5 were included in the same group named \'metabolic myopathies\'. In two PKU patients, plasma phenylalanine level increased significantly within 24 h following the second dose of vaccination. None of the OA, UCD, MSUD and metabolic myopathy patients experienced acute metabolic attack and had emergency department admission due to metabolic decompensation within 1 month after vaccination.
COVID-19 vaccines did not cause acute metabolic decompensation in a cohort of 18 children with IEM.
摘要：
目的：目前尚无关于COVID-19疫苗在先天性代谢异常（IEM）患者中安全性的推荐指南或临床研究。这里,我们旨在研究儿科IEM患者COVID-19疫苗接种与代谢结局之间的关系.
方法：纳入年龄在12至18岁之间的IEM患者。术语代谢失代偿被定义为由于疫苗接种引起的代谢稳态的急性破坏。比较了疫苗接种前和疫苗接种后的临床和生化指标。
结果：纳入了18例患者共36次疫苗接种的数据。13例患者有中毒型代谢紊乱，包括有机酸血症（OA），尿素循环障碍（UCD），枫糖浆尿症（MSUD）和苯丙酮尿症（PKU）；4例患者患有能量代谢障碍，包括脂肪酸代谢障碍和LIPIN1缺乏；1例患者患有糖原贮积障碍（GSD）5型。17例患者接受BNT162b2，1例患者因潜在的长QT综合征而接受CoronaVac。脂肪酸代谢紊乱,LIPIN1缺乏和GSD5型包括在名为“代谢性肌病”的同一组中。在两名PKU患者中，血浆苯丙氨酸水平在第二剂疫苗接种后24小时内显着增加。没有OA，UCD,MSUD和代谢性肌病患者在接种疫苗后1个月内出现急性代谢发作，并因代谢失代偿而入院急诊。
结论：COVID-19疫苗在18名IEM儿童队列中没有引起急性代谢失代偿。
方法：纳入年龄在12至18岁之间的IEM患者。术语代谢失代偿被定义为由于疫苗接种引起的代谢稳态的急性破坏。比较了疫苗接种前和疫苗接种后的临床和生化指标。
结果：纳入了18例患者共36次疫苗接种的数据。13例患者有中毒型代谢紊乱，包括有机酸血症（OA），尿素循环障碍（UCD），枫糖浆尿症（MSUD）和苯丙酮尿症（PKU）；4例患者患有能量代谢障碍，包括脂肪酸代谢障碍和LIPIN1缺乏；1例患者患有糖原贮积障碍（GSD）5型。17例患者接受BNT162b2，1例患者因潜在的长QT综合征而接受CoronaVac。脂肪酸代谢紊乱,LIPIN1缺乏和GSD5型包括在名为“代谢性肌病”的同一组中。在两名PKU患者中，血浆苯丙氨酸水平在第二剂疫苗接种后24小时内显着增加。没有OA，UCD,MSUD和代谢性肌病患者在接种疫苗后1个月内出现急性代谢发作，并因代谢失代偿而入院急诊。
结论：COVID-19疫苗在18名IEM儿童队列中没有引起急性代谢失代偿。
