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Article

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

1
Austrian Newborn Screening, Division of Pediatric Pulmonology, Allergology and Endocrinology, Department of Pediatrics and Adolescent Medicine, Comprehensive Center for Pediatrics, Medical University of Vienna, 1090 Vienna, Austria
2
Clinical Department of Laboratory Medicine, Medical University of Vienna, 1090 Vienna, Austria
3
Department of Paediatrics, Landeskrankenhaus Bregenz, 6900 Bregenz, Austria
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Division of Metabolism and Children’s Research Center, University Children’s Hospital, 8032 Zürich, Switzerland
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Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, University Childrens’ Hospital Graz, Medical University Graz, 8036 Graz, Austria
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University Children’s Hospital, Paracelsus Medical University, 5020 Salzburg, Austria
7
Department of Pediatrics I (Inherited Metabolic Disorders), Medical University of Innsbruck, 6020 Innsbruck, Austria
*
Author to whom correspondence should be addressed.
Diagnostics 2020, 10(9), 626; https://doi.org/10.3390/diagnostics10090626
Received: 28 July 2020 / Revised: 18 August 2020 / Accepted: 20 August 2020 / Published: 24 August 2020
(This article belongs to the Special Issue Diagnosis and Treatment of Pediatric Metabolic Diseases)
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. View Full-Text
Keywords: vitamin B12; newborn screening; homocysteine; methylmalonic acid; dried blood spots vitamin B12; newborn screening; homocysteine; methylmalonic acid; dried blood spots
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MDPI and ACS Style

Rozmarič, T.; Mitulović, G.; Konstantopoulou, V.; Goeschl, B.; Huemer, M.; Plecko, B.; Spenger, J.; Wortmann, S.B.; Scholl-Bürgi, S.; Karall, D.; Greber-Platzer, S.; Zeyda, M. Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns. Diagnostics 2020, 10, 626. https://doi.org/10.3390/diagnostics10090626

AMA Style

Rozmarič T, Mitulović G, Konstantopoulou V, Goeschl B, Huemer M, Plecko B, Spenger J, Wortmann SB, Scholl-Bürgi S, Karall D, Greber-Platzer S, Zeyda M. Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns. Diagnostics. 2020; 10(9):626. https://doi.org/10.3390/diagnostics10090626

Chicago/Turabian Style

Rozmarič, Tomaž, Goran Mitulović, Vassiliki Konstantopoulou, Bernadette Goeschl, Martina Huemer, Barbara Plecko, Johannes Spenger, Saskia B. Wortmann, Sabine Scholl-Bürgi, Daniela Karall, Susanne Greber-Platzer, and Maximilian Zeyda. 2020. "Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns" Diagnostics 10, no. 9: 626. https://doi.org/10.3390/diagnostics10090626

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