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

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, whic...

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Detalles Bibliográficos
Autores principales: Held, Patrice K., Singh, Emily, Scott Schwoerer, Jessica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8883915/
https://www.ncbi.nlm.nih.gov/pubmed/35225935
http://dx.doi.org/10.3390/ijns8010013
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author Held, Patrice K.
Singh, Emily
Scott Schwoerer, Jessica
author_facet Held, Patrice K.
Singh, Emily
Scott Schwoerer, Jessica
author_sort Held, Patrice K.
collection PubMed
description 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 categorized into groups: inborn error of metabolism, maternal B12 deficiency, infant B12 deficiency, and false positive. A review of the screening data showed a significant overlap in the concentration of biomarkers for newborns with genetic versus acquired disease. Additionally, a review of confirmatory test results showed incomplete ascertainment of maternal vitamin B12 status. The Wisconsin newborn screening program recommended a confirmatory testing algorithm to aid in the diagnosis of inborn errors of metabolism and acquired vitamin B12 deficiency.
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spelling pubmed-88839152022-03-01 Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations Held, Patrice K. Singh, Emily Scott Schwoerer, Jessica Int J Neonatal Screen Article 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 categorized into groups: inborn error of metabolism, maternal B12 deficiency, infant B12 deficiency, and false positive. A review of the screening data showed a significant overlap in the concentration of biomarkers for newborns with genetic versus acquired disease. Additionally, a review of confirmatory test results showed incomplete ascertainment of maternal vitamin B12 status. The Wisconsin newborn screening program recommended a confirmatory testing algorithm to aid in the diagnosis of inborn errors of metabolism and acquired vitamin B12 deficiency. MDPI 2022-02-07 /pmc/articles/PMC8883915/ /pubmed/35225935 http://dx.doi.org/10.3390/ijns8010013 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Held, Patrice K.
Singh, Emily
Scott Schwoerer, Jessica
Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations
title Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations
title_full Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations
title_fullStr Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations
title_full_unstemmed Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations
title_short Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations
title_sort screening for methylmalonic and propionic acidemia: clinical outcomes and follow-up recommendations
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8883915/
https://www.ncbi.nlm.nih.gov/pubmed/35225935
http://dx.doi.org/10.3390/ijns8010013
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