Evidence map›Paper›PMID 40225937›Full record

ArticleHuman mutation2024

Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency.

Helene Bruhn, Karin Naess, Sofia Ygberg, Lucía Peña-Pérez, Nicole Lesko, Rolf Wibom, Christoph Freyer, Henrik Stranneheim, Anna Wedell, Anna Wredenberg

Abstract readCase Reports
In one paragraph

Article in Human mutation, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. Article
  2. Article
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

10 authors.

Helene BruhnDepartment of Medical Biochemistry and Biophysics, Karolinska Institutet, 17177 Stockholm, Sweden.ORCID 0009-0007-4449-5382
Karin NaessDepartment of Medical Biochemistry and Biophysics, Karolinska Institutet, 17177 Stockholm, Sweden.ORCID 0000-0003-4310-7927
Sofia YgbergDepartment of Medical Biochemistry and Biophysics, Karolinska Institutet, 17177 Stockholm, Sweden.ORCID 0000-0002-3854-2716
Lucía Peña-PérezCentre for Inherited Metabolic Diseases, Karolinska University Hospital, 17176 Stockholm, Sweden.ORCID 0000-0002-5044-7754
Nicole LeskoCentre for Inherited Metabolic Diseases, Karolinska University Hospital, 17176 Stockholm, Sweden.ORCID 0000-0001-8770-1878
Rolf WibomDepartment of Medical Biochemistry and Biophysics, Karolinska Institutet, 17177 Stockholm, Sweden.ORCID 0000-0001-6721-4642
Christoph FreyerDepartment of Medical Biochemistry and Biophysics, Karolinska Institutet, 17177 Stockholm, Sweden.ORCID 0000-0003-0418-1673
Henrik StranneheimCentre for Inherited Metabolic Diseases, Karolinska University Hospital, 17176 Stockholm, Sweden.ORCID 0009-0009-1335-8021
Anna WedellCentre for Inherited Metabolic Diseases, Karolinska University Hospital, 17176 Stockholm, Sweden.ORCID 0000-0002-2612-6301
Anna WredenbergDepartment of Medical Biochemistry and Biophysics, Karolinska Institutet, 17177 Stockholm, Sweden.ORCID 0000-0002-2500-6121

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pyruvate dehydrogenase complex deficiency (PDCD) is a defect of aerobic carbohydrate metabolism that causes neurological disorders with varying degrees of severity. We report the clinical, biochemical, and molecular findings in patients with primary and secondary PDCD caused by novel atypical genetic variants. Whole-genome sequencing (WGS) identified the synonymous variants c.447A>G, p.(Lys149=) and c.570C>T, p.(Cys190=) in pyruvate dehydrogenase E1 subunit alpha 1 (

Indexed as

IntronsMutationPyruvate Dehydrogenase Complex Deficiency DiseaseExonsFemaleHumansMalePhenotypePyruvate Dehydrogenase Acetyl-Transferring KinasePyruvate Dehydrogenase (Lipoamide)Thiamin PyrophosphokinaseWhole Genome SequencingPyruvate Dehydrogenase Acetyl-Transferring Kinasepyruvate dehydrogenase E1alpha subunitPyruvate Dehydrogenase (Lipoamide)Thiamin Pyrophosphokinase

Identifiers

PMID40225937
PMCPMC11919216

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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.