Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations.

ABSTRACT: Wisconsin's newborn screening program implemented second-tier testing on specimens with elevated propionylcarnitine (C3) to aid in the identification of newborns with propionic and methylmalonic acidemias. The differential diagnosis for elevated C3 also includes acquired vitamin B12 deficiency, which is currently categorized as a false positive screen. The goal of this study was to summarize screening data and evaluate their effectiveness at establishing diagnoses and categorizing false positive cases. All Wisconsin newborns born between 2013 and 2019 with a positive first-tier screen for C3 were included in this study. For each case the first- and second-tier newborn screening data and confirmatory test results were compiled. The clinical determination for each case was reviewed and categ

SUBMITTER: Held PK 

PROVIDER: S-EPMC8883915 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature