Evidence map›Paper›PMID 37754774›Full record

ArticleInternational journal of neonatal screening2023

New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.

Galina V Baydakova, Polina G Tsygankova, Natalia L Pechatnikova, Olga A Bazhanova, Yana D Nazarenko, Ekaterina Y Zakharova

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 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.1field-weighted citation impact, top 22% 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

5 citing papers in PubMed, 6 citations in OpenAlex.

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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

6 authors at 2 institutions in 1 country.

Galina V BaydakovaResearch Centre for Medical Genetics, Moskvorechye Str., 1, 115522 Moscow, Russia.
Polina G TsygankovaResearch Centre for Medical Genetics, Moskvorechye Str., 1, 115522 Moscow, Russia.ORCID 0000-0003-3998-3609
Natalia L PechatnikovaMorozov Children's City Clinical Hospital, 4th Dobryninsky Lane, 1/9, 119049 Moscow, Russia.
Olga A BazhanovaResearch Centre for Medical Genetics, Moskvorechye Str., 1, 115522 Moscow, Russia.
Yana D NazarenkoResearch Centre for Medical Genetics, Moskvorechye Str., 1, 115522 Moscow, Russia.ORCID 0000-0003-0033-8311
Ekaterina Y ZakharovaResearch Centre for Medical Genetics, Moskvorechye Str., 1, 115522 Moscow, Russia.
Research Centre for Medical Genetics · RURussian Children's Clinical Hospital · RU

Funding

The Ministry of Science and Higher Education of the Russian Federation (the Federal Scientific-technical program for genetic technologies development for 2019-2027) Agreement N 075-15-2021-1061, RF 193021X0029
6 · The paper itself

Abstract

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiencies are rare fatal disorders of fatty acid β-oxidation with no apparent genotype-phenotype correlation. The measurement of acylcarnitines by MS/MS is a current diagnostic workup in these disorders. Nevertheless, false-positive and false-negative results have been reported, highlighting a necessity for more sensitive and specific biomarkers. This study included 54 patients with LCHAD/MTP deficiency that has been confirmed by biochemical and molecular methods. The analysis of acylcarnitines in dried blood spots was performed using ESI-MS/MS. The established "HADHA ratio" = (C16OH + C18OH + C18:1OH)/C0 was significantly elevated in all 54 affected individuals in comparison to the control group. Apart from 54 LCHAD deficiency patients, the "HADHA ratio" was calculated in 19 patients with very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. As VLCAD-deficient patients did not show increased "HADHA ratio", the results emphasized the high specificity of this new ratio. Therefore, the "HADHA ratio" was shown to be instrumental in improving the overall performance of MS/MS-based analysis of acylcarnitine levels in the diagnostics of LCHAD/MTP deficiencies. The ratio was demonstrated to increase the sensitivity and specificity of this method and reduce the chances of false-negative results.

Indexed as

acylcarnitinesbiochemical markerHADHAinherited metabolic diseaseslong-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Identifiers

PMID37754774
PMCPMC10531771
OpenAlexW4386161283

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.