Suppr超能文献

爱沙尼亚新生儿中维生素B12水平低的发生率很高。

High incidence of low vitamin B12 levels in Estonian newborns.

作者信息

Reinson Karit, Künnapas Kadi, Kriisa Annika, Vals Mari-Anne, Muru Kai, Õunap Katrin

机构信息

Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.

Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

出版信息

Mol Genet Metab Rep. 2018 Jan 11;15:1-5. doi: 10.1016/j.ymgmr.2017.11.002. eCollection 2018 Jun.

Abstract

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.

摘要

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。

相似文献

1
High incidence of low vitamin B12 levels in Estonian newborns.
Mol Genet Metab Rep. 2018 Jan 11;15:1-5. doi: 10.1016/j.ymgmr.2017.11.002. eCollection 2018 Jun.
3
Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway.
Int J Neonatal Screen. 2023 Jan 5;9(1):3. doi: 10.3390/ijns9010003.
4
Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns.
J Pediatr Endocrinol Metab. 2022 Sep 19;35(10):1223-1231. doi: 10.1515/jpem-2022-0340. Print 2022 Oct 26.
6
[Maternal and neonatal vitamin B deficiency detected by expanded newborn screening].
Orv Hetil. 2017 Dec;158(48):1909-1918. doi: 10.1556/650.2017.30901.
8
Diagnostic Challenges Using a 2-Tier Strategy for Methylmalonic Acidurias: Data from 1.2 Million Dried Blood Spots.
Ann Nutr Metab. 2020;76(4):268-276. doi: 10.1159/000508838. Epub 2020 Jul 17.
9
Maternal vitamin B12 deficiency detected in expanded newborn screening.
Clin Biochem. 2014 Dec;47(18):312-7. doi: 10.1016/j.clinbiochem.2014.08.020. Epub 2014 Sep 7.

引用本文的文献

1
Critical vitamin D and iron intakes in infants aged 6-11 months: results from the nationwide German KiESEL study.
Front Nutr. 2025 Feb 17;12:1472685. doi: 10.3389/fnut.2025.1472685. eCollection 2025.
2
The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear.
Int J Neonatal Screen. 2024 Jun 18;10(2):40. doi: 10.3390/ijns10020040.
4
Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway.
Int J Neonatal Screen. 2023 Jan 5;9(1):3. doi: 10.3390/ijns9010003.
10
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.
Int J Neonatal Screen. 2022 Aug 9;8(3):47. doi: 10.3390/ijns8030047.

本文引用的文献

1
Newborn screening for remethylation disorders and vitamin B deficiency-evaluation of new strategies in cohorts from Qatar and Germany.
World J Pediatr. 2017 Apr;13(2):136-143. doi: 10.1007/s12519-017-0003-z. Epub 2017 Jan 15.
2
B12 deficiency is common in infants and is accompanied by serious neurological symptoms.
Acta Paediatr. 2017 Jan;106(1):101-104. doi: 10.1111/apa.13625. Epub 2016 Nov 11.
3
Biomarkers and Algorithms for the Diagnosis of Vitamin B12 Deficiency.
Front Mol Biosci. 2016 Jun 27;3:27. doi: 10.3389/fmolb.2016.00027. eCollection 2016.
4
Maternal vitamin B12 deficiency detected in expanded newborn screening.
Clin Biochem. 2014 Dec;47(18):312-7. doi: 10.1016/j.clinbiochem.2014.08.020. Epub 2014 Sep 7.
6
A patient with an inborn error of vitamin B12 metabolism (cblF) detected by newborn screening.
Pediatrics. 2013 Jul;132(1):e257-61. doi: 10.1542/peds.2013-0105. Epub 2013 Jun 17.
7
Vitamin B12 in neurology and ageing; clinical and genetic aspects.
Biochimie. 2013 May;95(5):1066-76. doi: 10.1016/j.biochi.2012.11.017. Epub 2012 Dec 7.
9
Folate (vitamin B9) and vitamin B12 and their function in the maintenance of nuclear and mitochondrial genome integrity.
Mutat Res. 2012 May 1;733(1-2):21-33. doi: 10.1016/j.mrfmmm.2011.11.003. Epub 2011 Nov 7.
10
Vitamin B12 treatment reduces mononuclear DNA damage.
Pediatr Int. 2011 Dec;53(6):1023-7. doi: 10.1111/j.1442-200X.2011.03448.x. Epub 2011 Oct 30.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验