Evidence map›Paper›PMID 36648770›Full record

ArticleInternational journal of neonatal screening2023

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

Trine Tangeraas, Ulf W Ljungblad, Elma Lutvica, Erle Kristensen, Alex D Rowe, Anne-Lise Bjørke-Monsen, Terje Rootwelt-Revheim, Ingjerd Sæves, Rolf D Pettersen

Open access · goldAbstract read
In one paragraph

Article in International journal of neonatal screening, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 pooled it
2.5field-weighted citation impact, top 11% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Fermentative production of vitamin BFood science & nutrition · 2024
    Review
  5. Article
  6. Review
  7. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 3 institutions in 1 country.

Trine TangeraasNorwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway.ORCID 0000-0003-3137-2117
Ulf W LjungbladInstitute of Clinical Medicine, University of Oslo, Mailbox 1171 Blindern, 0318 Oslo, Norway.
Elma LutvicaMedical Faculty, University of Oslo, Mailbox 1171 Blindern, 0318 Oslo, Norway.
Erle KristensenDepartment of Medical Biochemistry, Oslo University Hospital, 0424 Oslo, Norway.
Alex D RoweNorwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway.
Anne-Lise Bjørke-MonsenDepartment of Medical Biochemistry and Pharmacology, Haukeland University Hospital, 5021 Bergen, Norway.
Terje Rootwelt-RevheimEuropean Reference Network for Hereditary Metabolic Disorders (MetabERN), 0424 Oslo, Norway.
Ingjerd SævesNorwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway.
Rolf D PettersenNorwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway.
Oslo University Hospital · NOUniversity of Oslo · NOHaukeland University Hospital · NO

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

B12 deficiencydried blood spotmethylmalonic acidemianewborn screeningpropionic acidemiasensitivityspecificity

Identifiers

PMID36648770
PMCPMC9844471
OpenAlexW4313558353

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.