血清维生素 B12 是诊断儿童甲基丙二酸血症的有前途的辅助指标：中国单中心研究。

Serum vitamin B12 is a promising auxiliary index for the diagnosis of methylmalonic acidemia in children: A single center study in China.

机构信息

Children's Hospital Affiliated to Zhengzhou University, Department of Endocrinology, Genetics and Metabolism, Henan Children's Hospital, Zhengz- hou Children's Hospital, Zhengzhou, China; Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, Third Affiliated Hospital and Institute of Neuroscience, Zhengzhou University, Zhengzhou, China.

Children's Hospital Affiliated to Zhengzhou University, Department of Endocrinology, Genetics and Metabolism, Henan Children's Hospital, Zhengz- hou Children's Hospital, Zhengzhou, China.

出版信息

Clin Chim Acta. 2023 Jun 1;546:117409. doi: 10.1016/j.cca.2023.117409. Epub 2023 May 20.

DOI:10.1016/j.cca.2023.117409

PMID:37217112

Abstract

BACKGROUND AND AIMS

Vitamin B12 (cobalamin, VitB12) is an essential coenzyme of methylmalonyl-CoA mutase and methionine synthase. Variations in VitB12 metabolism, absorption, transport, or intake may cause changes in methylmalonic acidemia (MMA) biomarkers. We aimed to investigate whether serum Vitamin B12 levels could be used in the early detection of MMA.

MATERIALS AND METHODS

We included 241 children with MMA and 241 healthy matched controls. We measured serum VitB12 levels by an enzyme immunoassay and investigated the relationship between abnormal VitB12 levels and hematologic parameters as potential risk factors for MMA symptoms.

RESULTS

Compared with controls, the serum levels of VitB12 were increased in the MMA group (p < 0.001). Serum VitB12 distinguished patients with MMA from healthy children (p < 0.001). Serum VitB12 combined with homocysteine and ammonia identified cblC and mut type MMA, respectively (p < 0.001). Homocysteine, folate, ammonia, NLR, and red blood cells contributed to serum VitB12 in cblC type MMA (p < 0.001); homocysteine, ammonia, and red blood cells, contributed in mut type MMA (p < 0.001); and elevated VitB12 was an independent predictor of MMA clinical onset (p < 0.001).

CONCLUSION

Serum VitB12 can be used as an early diagnostic biomarker for MMA in children.

摘要

背景与目的

维生素 B12（钴胺素，VitB12）是甲基丙二酰辅酶 A 变位酶和蛋氨酸合成酶的必需辅酶。VitB12 代谢、吸收、转运或摄入的变化可能导致甲基丙二酸血症（MMA）生物标志物的改变。我们旨在研究血清维生素 B12 水平是否可用于 MMA 的早期检测。

材料与方法

我们纳入了 241 例 MMA 患儿和 241 例健康匹配对照。我们通过酶联免疫吸附法测定血清 VitB12 水平，并研究了 VitB12 水平异常与血液学参数之间的关系，这些参数可能是 MMA 症状的潜在危险因素。

结果

与对照组相比，MMA 组的血清 VitB12 水平升高（p<0.001）。血清 VitB12 可区分 MMA 患儿和健康儿童（p<0.001）。血清 VitB12 联合同型半胱氨酸和氨分别可识别 cblC 和 mut 型 MMA（p<0.001）。同型半胱氨酸、叶酸、氨、中性粒细胞与淋巴细胞比值和红细胞计数有助于 cblC 型 MMA 患者的血清 VitB12（p<0.001）；同型半胱氨酸、氨和红细胞计数有助于 mut 型 MMA（p<0.001）；而 VitB12 升高是 MMA 临床发病的独立预测因子（p<0.001）。