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Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway

Untreated vitamin B12 (B12) deficiency may cause delayed development in infants. Several newborn screening (NBS) programs have reported an increased detection rate of B12 deficiency when second-tier dried blood spot (DBS) analyses of total homocysteine (tHcy) and methylmalonic acid (MMA) are include...

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Autores principales: Tangeraas, Trine, Ljungblad, Ulf W., Lutvica, Elma, Kristensen, Erle, Rowe, Alex D., Bjørke-Monsen, Anne-Lise, Rootwelt-Revheim, Terje, Sæves, Ingjerd, Pettersen, Rolf D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9844471/
https://www.ncbi.nlm.nih.gov/pubmed/36648770
http://dx.doi.org/10.3390/ijns9010003
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author Tangeraas, Trine
Ljungblad, Ulf W.
Lutvica, Elma
Kristensen, Erle
Rowe, Alex D.
Bjørke-Monsen, Anne-Lise
Rootwelt-Revheim, Terje
Sæves, Ingjerd
Pettersen, Rolf D.
author_facet Tangeraas, Trine
Ljungblad, Ulf W.
Lutvica, Elma
Kristensen, Erle
Rowe, Alex D.
Bjørke-Monsen, Anne-Lise
Rootwelt-Revheim, Terje
Sæves, Ingjerd
Pettersen, Rolf D.
author_sort Tangeraas, Trine
collection PubMed
description Untreated vitamin B12 (B12) deficiency may cause delayed development in infants. Several newborn screening (NBS) programs have reported an increased detection rate of B12 deficiency when second-tier dried blood spot (DBS) analyses of total homocysteine (tHcy) and methylmalonic acid (MMA) are included. This is a retrospective study of newborns reported from NBS during 2012–2021 with confirmed B12 deficiency. DBSs were retrieved from the NBS biobank for second-tier MMA and tHcy analysis. Thirty-one newborns were diagnosed with B12 deficiency out of 552970 screened. Twenty-five were ascertained from sixty-one false positive (FP) cases of methylmalonic acidemia and propionic acidemia (PA), and six infants screened positive for other NBS metabolic diseases with propionylcarnitine (C3) in the normal range. In the original DBS, 7/23 (30%) and 12/23 (52%) of B12-deficient newborns with FP methylmalonic acidemia/PA had MMA and tHcy > 99th percentile. B12 deficiency was a common differential diagnosis of screening positive for methylmalonic and PA. C3 failed to identify a subset of newborns with B12 deficiency. Second-tier MMA and tHcy analyses in the DBS showed suboptimal sensitivity for identifying infants with B12 deficiency. The shortcomings of NBS should be acknowledged when considering B12 deficiency as a primary target of NBS panels.
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spelling pubmed-98444712023-01-18 Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway Tangeraas, Trine Ljungblad, Ulf W. Lutvica, Elma Kristensen, Erle Rowe, Alex D. Bjørke-Monsen, Anne-Lise Rootwelt-Revheim, Terje Sæves, Ingjerd Pettersen, Rolf D. Int J Neonatal Screen Article Untreated vitamin B12 (B12) deficiency may cause delayed development in infants. Several newborn screening (NBS) programs have reported an increased detection rate of B12 deficiency when second-tier dried blood spot (DBS) analyses of total homocysteine (tHcy) and methylmalonic acid (MMA) are included. This is a retrospective study of newborns reported from NBS during 2012–2021 with confirmed B12 deficiency. DBSs were retrieved from the NBS biobank for second-tier MMA and tHcy analysis. Thirty-one newborns were diagnosed with B12 deficiency out of 552970 screened. Twenty-five were ascertained from sixty-one false positive (FP) cases of methylmalonic acidemia and propionic acidemia (PA), and six infants screened positive for other NBS metabolic diseases with propionylcarnitine (C3) in the normal range. In the original DBS, 7/23 (30%) and 12/23 (52%) of B12-deficient newborns with FP methylmalonic acidemia/PA had MMA and tHcy > 99th percentile. B12 deficiency was a common differential diagnosis of screening positive for methylmalonic and PA. C3 failed to identify a subset of newborns with B12 deficiency. Second-tier MMA and tHcy analyses in the DBS showed suboptimal sensitivity for identifying infants with B12 deficiency. The shortcomings of NBS should be acknowledged when considering B12 deficiency as a primary target of NBS panels. MDPI 2023-01-05 /pmc/articles/PMC9844471/ /pubmed/36648770 http://dx.doi.org/10.3390/ijns9010003 Text en © 2023 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
Tangeraas, Trine
Ljungblad, Ulf W.
Lutvica, Elma
Kristensen, Erle
Rowe, Alex D.
Bjørke-Monsen, Anne-Lise
Rootwelt-Revheim, Terje
Sæves, Ingjerd
Pettersen, Rolf D.
Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway
title Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway
title_full Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway
title_fullStr Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway
title_full_unstemmed Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway
title_short Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway
title_sort vitamin b12 deficiency (un-)detected using newborn screening in norway
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9844471/
https://www.ncbi.nlm.nih.gov/pubmed/36648770
http://dx.doi.org/10.3390/ijns9010003
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