Vitamin B12 Deficiency in Newborns and their Mothers—Novel Approaches to Early Detection, Treatment and Prevention of a Global Health Issue

• Published in: Current medical science 2020-10, Vol.40 (5), p.801-809
• Main Authors: Gramer, Gwendolyn, Hoffmann, Georg F.
• Format: Article
• Language: English
• Subjects: Medicine; Medicine & Public Health
• ISSN: 2096-5230; 2523-899X
• DOI: 10.1007/s11596-020-2260-7

Summary Vitamin B 12 deficiency, mostly of maternal origin in newborns, is a well treatable condition but can cause severe neurologic sequelae. In women of childbearing age and pregnant women worldwide vitamin B 12 deficiency has been reported with frequencies of 10%–50%. Children with vitamin B 12 deficiency are asymptomatic at birth but may develop severe multisystemic symptoms, including irreversible developmental impairment in the second half-year of life. Early detection of vitamin B 12 deficiency allows for presymptomatic treatment. This article provides an overview over the function of vitamin B 12 and discusses causes and frequency of vitamin B 12 deficiency in newborns, infants, and women of childbearing age. It describes novel successful approaches to newborn screening (NBS) for vitamin B 12 deficiency and results of a pilot study which performed systematic NBS for vitamin B 12 deficiency using so-called second-tier strategies by measuring homocysteine and methylmalonic acid in dried blood spots. Recommendations for diagnostics in mothers of children with vitamin B 12 deficiency are described as well as results of systematic work-up in mothers and treatment and follow-up of children with vitamin B 12 deficiency detected by NBS. Treatment options of vitamin B 12 deficiency are presented including a newly developed standardized supplementation scheme with exclusively oral vitamin B 12 supplementation. Recommendations for preventive approaches to vitamin B 12 deficiency for children and mothers are stated. Many children worldwide could benefit from systematic inclusion of vitamin B 12 deficiency into NBS panels. In addition, preventive approaches to maternal vitamin B 12 deficiency should be implemented systematically during maternal care.