Reinson Karit, Künnapas Kadi, Kriisa Annika, Vals Mari-Anne, Muru Kai, Õunap Katrin
Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
Mol Genet Metab Rep. 2018 Jan 11;15:1-5. doi: 10.1016/j.ymgmr.2017.11.002. eCollection 2018 Jun.
Vitamin B12 deficiency seems to be more common worldwide than previously thought. However, only a few reports based on data from newborn screening (NBS) programs have drawn attention to that subject. In Estonia, over the past three years, we have diagnosed 14 newborns with congenital acquired vitamin B12 deficiency. Therefore, the incidence of that condition is 33.8/100,000 live births, which is considerably more than previously believed. None of the newborns had any clinical symptoms associated with vitamin B12 deficiency before the treatment, and all biochemical markers normalized after treatment, which strongly supports the presence of treatable congenital deficiency of vitamin B12. During the screening period, we began using actively ratios of some metabolites like propionylcarnitine (C3) to acetylcarnitine (C2) and C3 to palmitoylcarnitine (C16) to improve the identification of newborns with acquired vitamin B12 deficiency. In the light of the results obtained, we will continue to screen the congenital acquired vitamin B12 deficiency among our NBS program. Every child with aberrant C3, C3/C2 and C3/C16 will be thoroughly examined to exclude acquired vitamin B12 deficiency, which can easily be corrected in most cases.
维生素B12缺乏症在全球范围内似乎比以前认为的更为常见。然而,仅有少数基于新生儿筛查(NBS)项目数据的报告关注到这一主题。在爱沙尼亚,过去三年里,我们诊断出14例先天性获得性维生素B12缺乏症新生儿。因此,该病的发病率为每10万例活产中有33.8例,这比之前认为的要高得多。治疗前,所有新生儿均无与维生素B12缺乏相关的临床症状,治疗后所有生化指标均恢复正常,这有力地支持了可治疗的先天性维生素B12缺乏症的存在。在筛查期间,我们开始积极使用一些代谢物的比值,如丙酰肉碱(C3)与乙酰肉碱(C2)的比值以及C3与棕榈酰肉碱(C16)的比值,以提高对获得性维生素B12缺乏症新生儿的识别。根据获得的结果,我们将继续在我们的新生儿筛查项目中筛查先天性获得性维生素B12缺乏症。每例C3、C3/C2和C3/C16异常的儿童都将接受全面检查,以排除获得性维生素B12缺乏症,大多数情况下这种缺乏症很容易得到纠正。