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

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.

• Authors: Mengmeng Du, Shengnan Wu, Chang Su, Xiaohong Wang, Bingbing Li, Yifan Lin, Shuxian Yuan, Yongxing Chen, Changlian Zhu, Haiyan Wei
• Journal: Clinica chimica acta; international journal of clinical chemistry (Clin Chim Acta) Vol. 546 Pg. 117409 (Jun 01 2023) ISSN: 1873-3492 [Electronic] Netherlands
• PMID: 37217112 (Publication Type: Journal Article)
• Copyright: Copyright © 2023. Published by Elsevier B.V.

Chemical References

• Ammonia
• Vitamin B 12
• Homocysteine

Topics

• Humans
• Child
• Ammonia
• Vitamin B 12
• Amino Acid Metabolism, Inborn Errors (diagnosis)
• China
• Homocysteine