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Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns

Early diagnostics and treatment of vitamin B12 deficiency (B12D) in infants, mainly maternally conditioned, is crucial in preventing possible developmental delay and neurological deficits. Currently, B12D is rarely listed in regular newborn screening panels and mostly regarded as an incidental findi...

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Autores principales: Rozmarič, Tomaž, Mitulović, Goran, Konstantopoulou, Vassiliki, Goeschl, Bernadette, Huemer, Martina, Plecko, Barbara, Spenger, Johannes, Wortmann, Saskia B., Scholl-Bürgi, Sabine, Karall, Daniela, Greber-Platzer, Susanne, Zeyda, Maximilian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7555675/
https://www.ncbi.nlm.nih.gov/pubmed/32846920
http://dx.doi.org/10.3390/diagnostics10090626
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author Rozmarič, Tomaž
Mitulović, Goran
Konstantopoulou, Vassiliki
Goeschl, Bernadette
Huemer, Martina
Plecko, Barbara
Spenger, Johannes
Wortmann, Saskia B.
Scholl-Bürgi, Sabine
Karall, Daniela
Greber-Platzer, Susanne
Zeyda, Maximilian
author_facet Rozmarič, Tomaž
Mitulović, Goran
Konstantopoulou, Vassiliki
Goeschl, Bernadette
Huemer, Martina
Plecko, Barbara
Spenger, Johannes
Wortmann, Saskia B.
Scholl-Bürgi, Sabine
Karall, Daniela
Greber-Platzer, Susanne
Zeyda, Maximilian
author_sort Rozmarič, Tomaž
collection PubMed
description Early diagnostics and treatment of vitamin B12 deficiency (B12D) in infants, mainly maternally conditioned, is crucial in preventing possible developmental delay and neurological deficits. Currently, B12D is rarely listed in regular newborn screening panels and mostly regarded as an incidental finding. The aim of this study was to evaluate a targeted newborn screening strategy for detection of suspected B12D. A decision strategy based on the primary parameters propionylcarnitine and methionine for selection of samples to be analyzed for total homocysteine by mass spectrometry was established. Therefore, 93,116 newborns were initially screened. Concentrations of vitamin B12 and holotranscobalamin in serum were obtained from clinical follow-up analyses of recalled newborns. Moreover, an extremely sensitive mass spectrometric method to quantify methylmalonic acid from the dried blood spots was developed. Overall, 0.15% of newborns were screened positive for suspected B12D, of which 64% had vitamin B12 concentrations below 148 pM. We also determined a cutoff value for methylmalonic acid in dried blood spots indicative for B12D in infants. Overall, we calculated a prevalence of 92/100,000 for suspected B12D in the Austrian newborns. In conclusion, we present a screening algorithm including second-tier measurement of total homocysteine that allows detection of low B12 serum concentrations with a high detection rate and low false-positive rate.
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spelling pubmed-75556752020-10-19 Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns Rozmarič, Tomaž Mitulović, Goran Konstantopoulou, Vassiliki Goeschl, Bernadette Huemer, Martina Plecko, Barbara Spenger, Johannes Wortmann, Saskia B. Scholl-Bürgi, Sabine Karall, Daniela Greber-Platzer, Susanne Zeyda, Maximilian Diagnostics (Basel) Article Early diagnostics and treatment of vitamin B12 deficiency (B12D) in infants, mainly maternally conditioned, is crucial in preventing possible developmental delay and neurological deficits. Currently, B12D is rarely listed in regular newborn screening panels and mostly regarded as an incidental finding. The aim of this study was to evaluate a targeted newborn screening strategy for detection of suspected B12D. A decision strategy based on the primary parameters propionylcarnitine and methionine for selection of samples to be analyzed for total homocysteine by mass spectrometry was established. Therefore, 93,116 newborns were initially screened. Concentrations of vitamin B12 and holotranscobalamin in serum were obtained from clinical follow-up analyses of recalled newborns. Moreover, an extremely sensitive mass spectrometric method to quantify methylmalonic acid from the dried blood spots was developed. Overall, 0.15% of newborns were screened positive for suspected B12D, of which 64% had vitamin B12 concentrations below 148 pM. We also determined a cutoff value for methylmalonic acid in dried blood spots indicative for B12D in infants. Overall, we calculated a prevalence of 92/100,000 for suspected B12D in the Austrian newborns. In conclusion, we present a screening algorithm including second-tier measurement of total homocysteine that allows detection of low B12 serum concentrations with a high detection rate and low false-positive rate. MDPI 2020-08-24 /pmc/articles/PMC7555675/ /pubmed/32846920 http://dx.doi.org/10.3390/diagnostics10090626 Text en © 2020 by the authors. 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 (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Rozmarič, Tomaž
Mitulović, Goran
Konstantopoulou, Vassiliki
Goeschl, Bernadette
Huemer, Martina
Plecko, Barbara
Spenger, Johannes
Wortmann, Saskia B.
Scholl-Bürgi, Sabine
Karall, Daniela
Greber-Platzer, Susanne
Zeyda, Maximilian
Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns
title Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns
title_full Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns
title_fullStr Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns
title_full_unstemmed Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns
title_short Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns
title_sort elevated homocysteine after elevated propionylcarnitine or low methionine in newborn screening is highly predictive for low vitamin b12 and holo-transcobalamin levels in newborns
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7555675/
https://www.ncbi.nlm.nih.gov/pubmed/32846920
http://dx.doi.org/10.3390/diagnostics10090626
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