Caglayan Murat, Gonel Ataman, Tayman Cuneyt, Cakir Ufuk, Koyuncu Ismail, Temiz Ebru, Sert Yasemin
Health Science University, Diskapi Yildirim Beyazit Training and Research Hospital, Department of Medical Biochemistry, Ankara, Turkey.
Hasan Kalyoncu University, Faculty of Health Science, Medical Park Gaziantep Hastanesi, Department of Nutrition and Dietetics, Gaziantep, Turkey.
J Med Biochem. 2023 Aug 25;42(3):376-382. doi: 10.5937/jomb0-40162.
Routine screening for hereditary disorders in newborns includes screening for treatable metabolic and endocrine disorders, such as biotidinase deficiency, galactosemia, maple syrup urine disease, hypothyroidism, and cystic fibrosis. Incorrect test results may be encountered due to the use of vitamin K1. To investigate the interference effect of vitamin K1 on neonatal screening tests and to raise awareness of erroneous measurements.
Heel blood samples were taken from 25 newborns born in a neonatal intensive care unit. Dry blood C0, C2, C3, C4, C4DC, C5:1, C5OH, C5DC, C6, C6DC, C8, C8:1, C8DC, C10, C10:1, C10DC, C12, C14, C14:1, C14:2, C16, C16:1, C18, C18:1, C18:2, C18:OH, methylglutaryl, valine, leucine/isoleucine, methionine, phenylalanine, argininosuccinic acid, aspartate, alanine, arginine, citrulline, glycine, ornithine, and glutamate tests were studied using the tandem mass spectrometry (MS) method. The results of the heel blood samples obtained before and after the application of vitamin K1 (Phyto menadione) were compared.
In two studies conducted with in vitro and in vivo tests, C0, C2, C3, C4, C4DC, C5, C5OH, C6, C8, C10, C10:1, C14, C16, C16:1, C18, C18:1, methylglutaryl, phenylalanine, argininosuccinic acid, tyrosine, aspartate, arginine, citrulline, glycine, and glutamine were all significantly elevated (p < 0.05).
Heel blood samples may yield false results due to vitamin K1 administration. In the case of doubtful results, a new sample should be taken and the measurement should be repeated.
新生儿遗传性疾病的常规筛查包括对可治疗的代谢和内分泌疾病进行筛查,如生物素酶缺乏症、半乳糖血症、枫糖尿症、甲状腺功能减退症和囊性纤维化。由于使用维生素K1,可能会出现错误的检测结果。旨在研究维生素K1对新生儿筛查试验的干扰作用,并提高对错误测量的认识。
从新生儿重症监护病房出生的25名新生儿采集足跟血样。采用串联质谱法对干血中的C0、C2、C3、C4、C4DC、C5:1、C5OH、C5DC、C6、C6DC、C8、C8:1、C8DC、C10、C10:1、C10DC、C12、C14、C14:1、C14:2、C16、C16:1、C18、C18:1、C18:2、C18:OH、甲基戊二酰、缬氨酸、亮氨酸/异亮氨酸、蛋氨酸、苯丙氨酸、精氨琥珀酸、天冬氨酸、丙氨酸、精氨酸、瓜氨酸、甘氨酸、鸟氨酸和谷氨酸进行检测。比较应用维生素K1(植物甲萘醌)前后获得的足跟血样结果。
在两项分别进行的体外和体内试验中,C0、C2、C3、C4、C4DC、C5、C5OH、C6、C8、C10、C10:1、C14、C16、C16:1、C18、C18:1、甲基戊二酰、苯丙氨酸、精氨琥珀酸、酪氨酸、天冬氨酸、精氨酸、瓜氨酸、甘氨酸和谷氨酰胺均显著升高(p<0.05)。
由于给予维生素K1,足跟血样可能产生假结果。如果结果可疑,应采集新的样本并重复测量。