Implementation of second-tier tests in newborn screening for the detection of vitamin B₁₂ related acquired and genetic disorders: results on 258,637 newborns.

ABSTRACT:

Background

Alteration of vitamin B₁₂ metabolism can be genetic or acquired, and can result in anemia, failure to thrive, developmental regression and even irreversible neurologic damage. Therefore, early diagnosis and intervention is critical. Most of the neonatal cases with acquired vitamin B₁₂ deficiency have been detected by clinical symptoms and only few of them trough NBS programs. We aim to assess the usefulness of the second-tier test: methylmalonic acid (MMA), methylcitric acid (MCA) and homocysteine (Hcys) in our newborn screening program and explore the implications on the detection of cobalamin (vitamin B₁₂) related disorders, both genetic and acquired conditions.

Methods

A screening strategy using the usual primary markers followe

SUBMITTER: Pajares S 

PROVIDER: S-EPMC8086297 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature