Evidence map›Paper›PMID 35799415›Full record

ArticleAmerican journal of medical genetics. Part A2022

Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.

Charles J Billington, Kimberly A Chapman, Eyby Leon, Beatrix W Meltzer, Seth I Berger, Matthew Olson, Robert A Figler, Steve A Hoang, Cui Wanxing, Brian R Wamhoff and 2 more

Open access · hybridAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of medical genetics. Part A, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.5field-weighted citation impact, top 36% 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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
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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

12 authors at 5 institutions in 1 country.

Charles J BillingtonChildren's National Rare Disease Institute, Washington, District of Columbia, USA.ORCID 0000-0002-9826-1860
Kimberly A ChapmanChildren's National Rare Disease Institute, Washington, District of Columbia, USA.ORCID 0000-0002-5471-9083
Eyby LeonChildren's National Rare Disease Institute, Washington, District of Columbia, USA.
Beatrix W MeltzerLaboratory Medicine, Children's National Hospital, Washington, District of Columbia, USA.
Seth I BergerChildren's National Rare Disease Institute, Washington, District of Columbia, USA.
Matthew OlsonHemoShear Therapeutics, Inc., Charlottesville, Virginia, USA.
Robert A FiglerHemoShear Therapeutics, Inc., Charlottesville, Virginia, USA.
Steve A HoangHemoShear Therapeutics, Inc., Charlottesville, Virginia, USA.
Cui WanxingGeorgetown University Hospital, Washington, District of Columbia, USA.
Brian R WamhoffHemoShear Therapeutics, Inc., Charlottesville, Virginia, USA.
M Sol ColladoHemoShear Therapeutics, Inc., Charlottesville, Virginia, USA.
Kristina Cusmano-OzogDepartment of Pathology, Stanford University Medical Center, Stanford, California, USA.
HemoShear (United States) · USChildren's National · USGeorge Washington University Hospital · USStanford Medicine · USUniversity of Minnesota · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Maple syrup urine disease (MSUD) is an intoxication-type inherited metabolic disorder in which hyperleucinemia leads to brain swelling and death without treatment. MSUD is caused by branched-chain alpha-ketoacid dehydrogenase deficiency due to biallelic loss of the protein products from the genes BCKDHA, BCKDHB, or DBT, while a distinct but related condition is caused by loss of DLD. In this case series, eleven individuals with MSUD caused by two pathogenic variants in DBT are presented. All eleven individuals have a deletion of exon 2 (delEx2, NM_001918.3:c.48_171del); six individuals are homozygous and five individuals are compound heterozygous with a novel missense variant (NM_001918.5:c.916 T > C [p.Ser306Pro]) confirmed to be in trans. Western Blot indicates decreased amount of protein product in delEx2;c.916 T > C liver cells and absence of protein product in delEx2 homozygous hepatocytes. Ultrahigh performance liquid chromatography-tandem mass spectrometry demonstrates an accumulation of branched-chain amino acids and alpha-ketoacids in explanted hepatocytes. Individuals with these variants have a neonatal-onset, non-thiamine-responsive, classical form of MSUD. Strikingly, the entire cohort is derived from families who immigrated to the Washington, DC, metro area from Honduras or El Salvador suggesting the possibility of a founder effect.

Indexed as

Maple Syrup Urine Disease3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)Central AmericaGenomicsHumansInfant, NewbornMutation3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)branched-chain alpha-ketoacidsDBTmaple syrup urine disease

Identifiers

PMID35799415
PMCPMC9542135
OpenAlexW4284885957

What OpenQuestion holds

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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.