Evidence map›Paper›PMID 41783484›Full record

ArticleMolecular genetics and metabolism reports2026

Incidental maternal glutaric aciduria type I detection through newborn screening: A case report.

Pierre-Edouard Grillet, Cecilia Marelli, Etienne Mondésert, Marie-Céline Francois-Heude, Agathe Roubertie, Frédérique Sabourdy, Jean-Paul Cristol, Cécile Acquaviva, Stéphanie Badiou

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Article in Molecular genetics and metabolism reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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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

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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

9 authors.

Pierre-Edouard GrilletDepartment of Biochemistry and Hormonology, Univ Montpellier, CHU Montpellier, France.
Cecilia MarelliReference Center for Neurogenetic Diseases, Univ Montpellier, EPHE, INSERM, CHU Montpellier, France.
Etienne MondésertDepartment of Biochemistry and Hormonology, Univ Montpellier, CHU Montpellier, France.
Marie-Céline Francois-HeudeDepartment of Neuropediatrics, CHU Montpellier, France.
Agathe RoubertieDepartment of Neuropediatrics, CHU Montpellier, France.
Frédérique SabourdyBiochemistry Laboratory, CHU Toulouse, INSERM 1037, CNRS 5071, Université Toulouse III-Paul Sabatier, Centre de Recherches en Cancérologie de Toulouse (CRCT), Toulouse, France.
Jean-Paul CristolDepartment of Biochemistry and Hormonology, Univ Montpellier, CHU Montpellier, France.
Cécile AcquavivaDepartment of Biochemistry and Molecular Biology, Inborn errors of metabolism unit, Hospices Civils de Lyon, Lyon, France.
Stéphanie BadiouDepartment of Biochemistry and Hormonology, Univ Montpellier, CHU Montpellier, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The expansion of newborn screening in France (2023-2025) to include carnitine metabolism disorders has increased false positives, often due to unsuspected maternal metabolic conditions. We report the first french incidental diagnosis of a glutaric acidemia type I in a mother following a low C0 carnitine level detected on her newborn's screening. Genetic analysis revealed a previously undescribed mutation in the

Indexed as

Glutaric aciduria type IIncidental diagnosisNewborn screening

Identifiers

PMID41783484
PMCPMC12954177

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